Ignite Creation Date:
2025-12-24 @ 5:34 PM
Ignite Modification Date:
2026-02-11 @ 3:55 AM
Study NCT ID:
NCT01793168
Status:
RECRUITING
Last Update Posted:
2025-05-29
First Post:
2013-02-13
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003635', 'term': 'De Lange Syndrome'}, {'id': 'C567107', 'term': 'Hypophosphatasia, Perinatal Lethal'}, {'id': 'C564146', 'term': 'Odontohypophosphatasia'}, {'id': 'C562647', 'term': 'Hypophosphatasia, Adult'}, {'id': 'C562440', 'term': 'Hypophosphatasia, Childhood'}, {'id': 'D007014', 'term': 'Hypophosphatasia'}, {'id': 'C537705', 'term': 'Kabuki syndrome'}, {'id': 'C537419', 'term': 'Bohring syndrome'}, {'id': 'D009290', 'term': 'Narcolepsy'}, {'id': 'D006970', 'term': 'Disorders of Excessive Somnolence'}, {'id': 'D020177', 'term': 'Idiopathic Hypersomnia'}, {'id': 'D017593', 'term': 'Kleine-Levin Syndrome'}, {'id': 'D009080', 'term': 'Mucocutaneous Lymph Node Syndrome'}, {'id': 'D007890', 'term': 'Leiomyosarcoma'}, {'id': 'D000224', 'term': 'Addison Disease'}, {'id': 'D012001', 'term': 'Hyperacusis'}, {'id': 'D020941', 'term': 'Myasthenia Gravis, Neonatal'}, {'id': 'D018980', 'term': 'Williams Syndrome'}, {'id': 'D008193', 'term': 'Lyme Disease'}, {'id': 'D009157', 'term': 'Myasthenia Gravis'}, {'id': 'D013132', 'term': 'Spinocerebellar Degenerations'}, {'id': 'D052159', 'term': 'Frasier Syndrome'}, {'id': 'D030321', 'term': 'Denys-Drash Syndrome'}, {'id': 'D001506', 'term': 'Beckwith-Wiedemann Syndrome'}, {'id': 'C535733', 'term': 'Emanuel syndrome'}, {'id': 'C535679', 'term': 'Axenfeld-Rieger syndrome'}, {'id': 'C000632444', 'term': 'Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation'}, {'id': 'C566281', 'term': 'Aniridia and Absent Patella'}, {'id': 'D015783', 'term': 'Aniridia'}, {'id': 'C537884', 'term': 'Peters anomaly'}, {'id': 'C538356', 'term': 'Potocki-Shaffer syndrome'}, {'id': 'D017624', 'term': 'WAGR Syndrome'}, {'id': 'D054877', 'term': 'Wolf-Hirschhorn Syndrome'}, {'id': 'C537493', 'term': 'Stickler syndrome, type 2'}, {'id': 'C537492', 'term': 'Stickler syndrome, type 1'}, {'id': 'D009081', 'term': 'Mucolipidoses'}, {'id': 'C537316', 'term': 'Spinocerebellar ataxia, X-linked, 4'}, {'id': 'C537315', 'term': 'Spinocerebellar ataxia, X-linked, 3'}, {'id': 'C564395', 'term': 'Spinocerebellar Ataxia with Epilepsy'}, {'id': 'C537308', 'term': 'Spinocerebellar ataxia, autosomal recessive 1'}, {'id': 'C537307', 'term': 'Spinocerebellar ataxia 8'}, {'id': 'D020754', 'term': 'Spinocerebellar Ataxias'}, {'id': 'C535738', 'term': 'Erythrokeratodermia with ataxia'}, {'id': 'C566146', 'term': 'Spinocerebellar Ataxia 31'}, {'id': 'C575214', 'term': 'Spinocerebellar ataxia 30'}, {'id': 'D017827', 'term': 'Machado-Joseph Disease'}, {'id': 'C564685', 'term': 'Spinocerebellar Ataxia 15'}, {'id': 'C537205', 'term': 'Spinocerebellar ataxia 28'}, {'id': 'C537204', 'term': 'Spinocerebellar ataxia 27'}, {'id': 'C537203', 'term': 'Spinocerebellar ataxia 26'}, {'id': 'C537202', 'term': 'Spinocerebellar ataxia 25'}, {'id': 'C537201', 'term': 'Spinocerebellar ataxia 23'}, {'id': 'C537200', 'term': 'Spinocerebellar ataxia 21'}, {'id': 'C537199', 'term': 'Spinocerebellar ataxia 20'}, {'id': 'C537197', 'term': 'Sensorimotor neuropathy with ataxia, autosomal dominant'}, {'id': 'C563505', 'term': 'Olivopontocerebellar Atrophy V'}, {'id': 'C537196', 'term': 'Spinocerebellar ataxia 14'}, {'id': 'C537195', 'term': 'Spinocerebellar ataxia 13'}, {'id': 'C565790', 'term': 'Spinocerebellar Ataxia 12'}, {'id': 'C565772', 'term': 'Spinocerebellar Ataxia 11'}, {'id': 'C566874', 'term': 'Spinocerebellar Ataxia 10'}, {'id': 'C566247', 'term': 'Ataxia, Spastic, with Congenital Miosis'}, {'id': 'C564815', 'term': 'Spastic Ataxia'}, {'id': 'C579922', 'term': 'Ataxia Neuropathy Spectrum'}, {'id': 'C567203', 'term': 'Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract'}, {'id': 'C562774', 'term': 'Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus'}, {'id': 'D009128', 'term': 'Muscle Spasticity'}, {'id': 'C537396', 'term': 'Neuropathy ataxia and retinitis pigmentosa'}, {'id': 'C563549', 'term': 'Myoclonus, Cerebellar Ataxia, and Deafness'}, {'id': 'D019578', 'term': 'Multiple System Atrophy'}, {'id': 'C536035', 'term': 'Maternally Inherited Leigh Syndrome'}, {'id': 'D007888', 'term': 'Leigh Disease'}, {'id': 'D007239', 'term': 'Infections'}, {'id': 'D005621', 'term': 'Friedreich Ataxia'}, {'id': 'C564105', 'term': 'Fragile X Tremor Ataxia Syndrome'}, {'id': 'C535506', 'term': 'Episodic Ataxia, Type 2'}, {'id': 'C567459', 'term': 'Episodic Ataxia, Type 7'}, {'id': 'C567207', 'term': 'Episodic Ataxia, Type 6'}, {'id': 'C566601', 'term': 'Episodic Ataxia, Type 5'}, {'id': 'C564698', 'term': 'Episodic Ataxia, Type 4'}, {'id': 'C564697', 'term': 'Episodic Ataxia, Type 3'}, {'id': 'C563278', 'term': 'Episodic Ataxia, Type 1'}, {'id': 'C535633', 'term': 'Harding ataxia'}, {'id': 'C563753', 'term': 'Spinocerebellar Ataxia, Autosomal Recessive 7'}, {'id': 'C565706', 'term': '3-Methylglutaconic Aciduria, Type V'}, {'id': 'C538283', 'term': 'Cataract ataxia deafness'}, {'id': 'C563363', 'term': 'Cerebellar Ataxia, Cayman Type'}, {'id': 'C565870', 'term': 'Cerebellar Ataxia and Hypogonadotropic Hypogonadism'}, {'id': 'C535350', 'term': 'Cerebellar ataxia ectodermal dysplasia'}, {'id': 'C535351', 'term': 'CAPOS syndrome'}, {'id': 'C566192', 'term': 'Brachydactyly-Nystagmus-Cerebellar Ataxia'}, {'id': 'C566817', 'term': 'Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia'}, {'id': 'C566956', 'term': 'Ataxia, Spastic, 3, Autosomal Recessive'}, {'id': 'C536787', 'term': 'Spastic ataxia Charlevoix-Saguenay type'}, {'id': 'C565188', 'term': 'Spinocerebellar Ataxia, Autosomal Recessive 8'}, {'id': 'C537309', 'term': 'Spinocerebellar ataxia, autosomal recessive 3'}, {'id': 'D029241', 'term': 'Optic Atrophy, Autosomal Dominant'}, {'id': 'C566865', 'term': 'Ataxia-Telangiectasia Variant'}, {'id': 'D001260', 'term': 'Ataxia Telangiectasia'}, {'id': 'D003638', 'term': 'Deafness'}, {'id': 'C565779', 'term': 'Ataxia Telangiectasia Like Disorder'}, {'id': 'C535393', 'term': 'Ataxia with vitamin E deficiency'}, {'id': 'C538013', 'term': 'Early-onset ataxia with oculomotor apraxia and hypoalbuminemia'}, {'id': 'D009377', 'term': 'Multiple Endocrine Neoplasia'}, {'id': 'D018813', 'term': 'Multiple Endocrine Neoplasia Type 2a'}, {'id': 'D018761', 'term': 'Multiple Endocrine Neoplasia Type 1'}, {'id': 'C567059', 'term': 'Multiple Endocrine Neoplasia, Type IV'}, {'id': 'D018814', 'term': 'Multiple Endocrine Neoplasia Type 2b'}, {'id': 'D013577', 'term': 'Syndrome'}, {'id': 'D065766', 'term': 'Atypical Hemolytic Uremic Syndrome'}, {'id': 'C565358', 'term': 'Growth Deficiency and Mental Retardation with Facial Dysmorphism'}, {'id': 'D051359', 'term': 'Lymphohistiocytosis, Hemophagocytic'}, {'id': 'D016738', 'term': 'Alagille Syndrome'}, {'id': 'D057180', 'term': 'Frontotemporal Dementia'}, {'id': 'C563476', 'term': 'Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia'}, {'id': 'D009800', 'term': 'Oculocerebrorenal Syndrome'}, {'id': 'C537403', 'term': 'Pitt-Hopkins syndrome'}, {'id': 'C535362', 'term': 'Chromosome 1p36 Deletion Syndrome'}, {'id': 'C537564', 'term': 'Jansen type metaphyseal chondrodysplasia'}, {'id': 'D003057', 'term': 'Cockayne Syndrome'}, {'id': 'C535456', 'term': 'Chronic recurrent multifocal osteomyelitis'}, {'id': 'C580162', 'term': 'Hereditary Sensory and Autonomic Neuropathy Type Ie'}, {'id': 'D009207', 'term': 'Myoclonus'}, {'id': 'D008587', 'term': 'Meningitis, Viral'}, {'id': 'D057130', 'term': 'Leber Congenital Amaurosis'}, {'id': 'D012174', 'term': 'Retinitis Pigmentosa'}, {'id': 'D008105', 'term': 'Liver Cirrhosis, Biliary'}, {'id': 'D020236', 'term': 'Amnesia, Transient Global'}, {'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D056769', 'term': 'Alstrom Syndrome'}, {'id': 'C537620', 'term': 'Growth mental deficiency syndrome of Myhre'}, {'id': 'C535297', 'term': 'Recurrent respiratory papillomatosis'}, {'id': 'C537876', 'term': 'Laryngeal papillomatosis'}, {'id': 'D012035', 'term': 'Refsum Disease'}, {'id': 'C536116', 'term': 'Nicolaides Baraitser syndrome'}, {'id': 'D000077684', 'term': 'Cauda Equina Syndrome'}, {'id': 'C536008', 'term': 'Achalasia Addisonianism Alacrimia syndrome'}, {'id': 'D004931', 'term': 'Esophageal Achalasia'}, {'id': 'D012003', 'term': 'Rectal Fistula'}, {'id': 'C538139', 'term': 'Sucrase-isomaltase deficiency, congenital'}, {'id': 'C535952', 'term': 'Eosinophilic enteropathy'}, {'id': 'D006627', 'term': 'Hirschsprung Disease'}, {'id': 'D007418', 'term': 'Intestinal Pseudo-Obstruction'}, {'id': 'D045743', 'term': 'Scleroderma, Diffuse'}, {'id': 'D012778', 'term': 'Short Bowel Syndrome'}, {'id': 'C537221', 'term': 'Sacral defect and anterior sacral meningocele'}, {'id': 'C566762', 'term': 'Sacral Agenesis Syndrome'}, {'id': 'D012544', 'term': 'Scheuermann Disease'}, {'id': 'D003554', 'term': 'Cystinosis'}, {'id': 'C562683', 'term': 'Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type'}, {'id': 'D055534', 'term': 'Bulbo-Spinal Atrophy, X-Linked'}, {'id': 'C536681', 'term': 'Warburg Sjo Fledelius syndrome'}, {'id': 'D028361', 'term': 'Mitochondrial Diseases'}, {'id': 'D000095747', 'term': 'Olivary Degeneration'}, {'id': 'D020158', 'term': 'Hyperglycinemia, Nonketotic'}, {'id': 'C536561', 'term': 'Trimethylaminuria'}, {'id': 'D006209', 'term': 'Halitosis'}, {'id': 'D015624', 'term': 'Lambert-Eaton Myasthenic Syndrome'}, {'id': 'D001656', 'term': 'Biliary Atresia'}, {'id': 'D038921', 'term': 'Coffin-Lowry Syndrome'}, {'id': 'C538157', 'term': 'Blau syndrome'}, {'id': 'D020162', 'term': 'Hyperargininemia'}, {'id': 'D044905', 'term': 'beta-Mannosidosis'}, {'id': 'C536928', 'term': 'Turcot syndrome'}, {'id': 'C538179', 'term': 'Acrodysostosis'}, {'id': 'D015325', 'term': 'Pyruvate Dehydrogenase Complex Deficiency Disease'}, {'id': 'C537015', 'term': 'KBG syndrome'}, {'id': 'C000598644', 'term': 'Leukoencephalopathy Brain Calcifications and Cysts'}, {'id': 'D007966', 'term': 'Leukodystrophy, Metachromatic'}, {'id': 'D009072', 'term': 'Moyamoya Disease'}, {'id': 'D039141', 'term': 'Muscular Dystrophy, Oculopharyngeal'}, {'id': 'C566343', 'term': 'Hereditary Myopathy with Early Respiratory Failure'}, {'id': 'D035583', 'term': 'Rare Diseases'}, {'id': 'D058069', 'term': 'Neglected Diseases'}, {'id': 'D001259', 'term': 'Ataxia'}, {'id': 'D009472', 'term': 'Neuronal Ceroid-Lipofuscinoses'}, {'id': 'D007714', 'term': 'Klippel-Feil Syndrome'}, {'id': 'D009477', 'term': 'Hereditary Sensory and Autonomic Neuropathies'}, {'id': 'C565655', 'term': 'Cystinosis, Infantile Nephropathic'}, {'id': 'C565278', 'term': 'Dimethylglycine Dehydrogenase Deficiency'}], 'ancestors': [{'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D008664', 'term': 'Metal Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D020919', 'term': 'Sleep Disorders, Intrinsic'}, {'id': 'D020920', 'term': 'Dyssomnias'}, {'id': 'D012893', 'term': 'Sleep Wake Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D014657', 'term': 'Vasculitis'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D017445', 'term': 'Skin Diseases, Vascular'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D009379', 'term': 'Neoplasms, Muscle Tissue'}, {'id': 'D018204', 'term': 'Neoplasms, Connective and Soft Tissue'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D012509', 'term': 'Sarcoma'}, {'id': 'D000309', 'term': 'Adrenal Insufficiency'}, {'id': 'D000307', 'term': 'Adrenal Gland Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D001327', 'term': 'Autoimmune Diseases'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D006311', 'term': 'Hearing Disorders'}, {'id': 'D004427', 'term': 'Ear Diseases'}, {'id': 'D010038', 'term': 'Otorhinolaryngologic Diseases'}, {'id': 'D012678', 'term': 'Sensation Disorders'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D020274', 'term': 'Autoimmune Diseases of the Nervous System'}, {'id': 'D020511', 'term': 'Neuromuscular Junction Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D021921', 'term': 'Aortic Stenosis, Supravalvular'}, {'id': 'D001024', 'term': 'Aortic Valve Stenosis'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D016905', 'term': 'Gram-Negative Bacterial Infections'}, {'id': 'D001424', 'term': 'Bacterial Infections'}, {'id': 'D001423', 'term': 'Bacterial Infections and Mycoses'}, {'id': 'D001899', 'term': 'Borrelia Infections'}, {'id': 'D013145', 'term': 'Spirochaetales Infections'}, {'id': 'D017282', 'term': 'Tick-Borne Diseases'}, {'id': 'D000079426', 'term': 'Vector Borne Diseases'}, {'id': 'D020361', 'term': 'Paraneoplastic Syndromes, Nervous System'}, {'id': 'D009423', 'term': 'Nervous System Neoplasms'}, {'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D010257', 'term': 'Paraneoplastic Syndromes'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D002526', 'term': 'Cerebellar Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D013118', 'term': 'Spinal Cord Diseases'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D058490', 'term': 'Disorder of Sex Development, 46,XY'}, {'id': 'D012734', 'term': 'Disorders of Sex Development'}, {'id': 'D014564', 'term': 'Urogenital Abnormalities'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D007676', 'term': 'Kidney Failure, Chronic'}, {'id': 'D051436', 'term': 'Renal Insufficiency, Chronic'}, {'id': 'D051437', 'term': 'Renal Insufficiency'}, {'id': 'D007674', 'term': 'Kidney Diseases'}, {'id': 'D014570', 'term': 'Urologic Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D006058', 'term': 'Gonadal Disorders'}, {'id': 'D002908', 'term': 'Chronic Disease'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D009396', 'term': 'Wilms Tumor'}, {'id': 'D018193', 'term': 'Neoplasms, Complex and Mixed'}, {'id': 'D007680', 'term': 'Kidney Neoplasms'}, {'id': 'D014571', 'term': 'Urologic Neoplasms'}, {'id': 'D014565', 'term': 'Urogenital Neoplasms'}, {'id': 'D009386', 'term': 'Neoplastic Syndromes, Hereditary'}, {'id': 'D000096803', 'term': 'Imprinting Disorders'}, {'id': 'D005124', 'term': 'Eye Abnormalities'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D007499', 'term': 'Iris Diseases'}, {'id': 'D014603', 'term': 'Uveal Diseases'}, {'id': 'D001851', 'term': 'Bone Diseases, Metabolic'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D002524', 'term': 'Cerebellar Ataxia'}, {'id': 'D020820', 'term': 'Dyskinesias'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009122', 'term': 'Muscle Hypertonia'}, {'id': 'D020879', 'term': 'Neuromuscular Manifestations'}, {'id': 'D054969', 'term': 'Primary Dysautonomias'}, {'id': 'D001342', 'term': 'Autonomic Nervous System Diseases'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D000080874', 'term': 'Synucleinopathies'}, {'id': 'D015323', 'term': 'Pyruvate Metabolism, Inborn Errors'}, {'id': 'D015418', 'term': 'Optic Atrophies, Hereditary'}, {'id': 'D009896', 'term': 'Optic Atrophy'}, {'id': 'D009901', 'term': 'Optic Nerve Diseases'}, {'id': 'D003389', 'term': 'Cranial Nerve Diseases'}, {'id': 'D020752', 'term': 'Neurocutaneous Syndromes'}, {'id': 'D013684', 'term': 'Telangiectasis'}, {'id': 'D000081207', 'term': 'Primary Immunodeficiency Diseases'}, {'id': 'D049914', 'term': 'DNA Repair-Deficiency Disorders'}, {'id': 'D007153', 'term': 'Immunologic Deficiency Syndromes'}, {'id': 'D034381', 'term': 'Hearing Loss'}, {'id': 'D004701', 'term': 'Endocrine Gland Neoplasms'}, {'id': 'D009378', 'term': 'Neoplasms, Multiple Primary'}, {'id': 'D004194', 'term': 'Disease'}, {'id': 'D006463', 'term': 'Hemolytic-Uremic Syndrome'}, {'id': 'D014511', 'term': 'Uremia'}, {'id': 'D000743', 'term': 'Anemia, Hemolytic'}, {'id': 'D000740', 'term': 'Anemia'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D057049', 'term': 'Thrombotic Microangiopathies'}, {'id': 'D013921', 'term': 'Thrombocytopenia'}, {'id': 'D001791', 'term': 'Blood Platelet Disorders'}, {'id': 'D000095542', 'term': 'Cytopenia'}, {'id': 'D015616', 'term': 'Histiocytosis, Non-Langerhans-Cell'}, {'id': 'D015614', 'term': 'Histiocytosis'}, {'id': 'D002780', 'term': 'Cholestasis, Intrahepatic'}, {'id': 'D002779', 'term': 'Cholestasis'}, {'id': 'D001649', 'term': 'Bile Duct Diseases'}, {'id': 'D001660', 'term': 'Biliary Tract Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D008107', 'term': 'Liver Diseases'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D057174', 'term': 'Frontotemporal Lobar Degeneration'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D057177', 'term': 'TDP-43 Proteinopathies'}, {'id': 'D057165', 'term': 'Proteostasis Deficiencies'}, {'id': 'D019965', 'term': 'Neurocognitive Disorders'}, {'id': 'D015499', 'term': 'Renal Tubular Transport, Inborn Errors'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D020157', 'term': 'Amino Acid Transport Disorders, Inborn'}, {'id': 'D004392', 'term': 'Dwarfism'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D020805', 'term': 'Central Nervous System Viral Diseases'}, {'id': 'D002494', 'term': 'Central Nervous System Infections'}, {'id': 'D014777', 'term': 'Virus Diseases'}, {'id': 'D008581', 'term': 'Meningitis'}, {'id': 'D000090862', 'term': 'Neuroinflammatory Diseases'}, {'id': 'D012164', 'term': 'Retinal Diseases'}, {'id': 'D058499', 'term': 'Retinal Dystrophies'}, {'id': 'D012162', 'term': 'Retinal Degeneration'}, {'id': 'D008103', 'term': 'Liver Cirrhosis'}, {'id': 'D005355', 'term': 'Fibrosis'}, {'id': 'D000647', 'term': 'Amnesia'}, {'id': 'D008569', 'term': 'Memory Disorders'}, {'id': 'D015417', 'term': 'Hereditary Sensory and Motor Neuropathy'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D011115', 'term': 'Polyneuropathies'}, {'id': 'D010523', 'term': 'Peripheral Nervous System Diseases'}, {'id': 'D000072661', 'term': 'Ciliopathies'}, {'id': 'D018901', 'term': 'Peroxisomal Disorders'}, {'id': 'D009408', 'term': 'Nerve Compression Syndromes'}, {'id': 'D011129', 'term': 'Polyradiculoneuropathy'}, {'id': 'D015154', 'term': 'Esophageal Motility Disorders'}, {'id': 'D003680', 'term': 'Deglutition Disorders'}, {'id': 'D004935', 'term': 'Esophageal Diseases'}, {'id': 'D005767', 'term': 'Gastrointestinal Diseases'}, {'id': 'D007412', 'term': 'Intestinal Fistula'}, {'id': 'D016154', 'term': 'Digestive System Fistula'}, {'id': 'D007410', 'term': 'Intestinal Diseases'}, {'id': 'D012002', 'term': 'Rectal Diseases'}, {'id': 'D005402', 'term': 'Fistula'}, {'id': 'D020763', 'term': 'Pathological Conditions, Anatomical'}, {'id': 'D004065', 'term': 'Digestive System Abnormalities'}, {'id': 'D008531', 'term': 'Megacolon'}, {'id': 'D003108', 'term': 'Colonic Diseases'}, {'id': 'D045823', 'term': 'Ileus'}, {'id': 'D007415', 'term': 'Intestinal Obstruction'}, {'id': 'D012595', 'term': 'Scleroderma, Systemic'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D008286', 'term': 'Malabsorption Syndromes'}, {'id': 'D011183', 'term': 'Postoperative Complications'}, {'id': 'D055035', 'term': 'Spinal Osteochondrosis'}, {'id': 'D055034', 'term': 'Osteochondrosis'}, {'id': 'D007738', 'term': 'Kyphosis'}, {'id': 'D013121', 'term': 'Spinal Curvatures'}, {'id': 'D013122', 'term': 'Spinal Diseases'}, {'id': 'D009134', 'term': 'Muscular Atrophy, Spinal'}, {'id': 'D016472', 'term': 'Motor Neuron Disease'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D012817', 'term': 'Signs and Symptoms, Digestive'}, {'id': 'D038901', 'term': 'X-Linked Intellectual Disability'}, {'id': 'D056806', 'term': 'Urea Cycle Disorders, Inborn'}, {'id': 'D044904', 'term': 'Mannosidase Deficiency Diseases'}, {'id': 'D020279', 'term': 'Hereditary Central Nervous System Demyelinating Diseases'}, {'id': 'D052516', 'term': 'Sulfatidosis'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D056784', 'term': 'Leukoencephalopathies'}, {'id': 'D003711', 'term': 'Demyelinating Diseases'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D002340', 'term': 'Carotid Artery Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D002539', 'term': 'Cerebral Arterial Diseases'}, {'id': 'D020765', 'term': 'Intracranial Arterial Diseases'}, {'id': 'D001157', 'term': 'Arterial Occlusive Diseases'}, {'id': 'D009136', 'term': 'Muscular Dystrophies'}, {'id': 'D020966', 'term': 'Muscular Disorders, Atrophic'}, {'id': 'D004413', 'term': 'Dysostoses'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'NONE_RETAINED', 'description': 'Biospecimen collection capability anticipated in 2014.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20000}, 'targetDuration': '100 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2010-07', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-05', 'completionDateStruct': {'date': '2100-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-05-22', 'studyFirstSubmitDate': '2013-02-13', 'studyFirstSubmitQcDate': '2013-02-13', 'lastUpdatePostDateStruct': {'date': '2025-05-29', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2013-02-15', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2100-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases.', 'timeFrame': '100 years'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Rare Diseases', 'Neglected Diseases', 'Orphan Diseases', 'Rare Disease Research', 'Registries', 'WAGR Syndrome', 'Ataxia', 'Cornelia de Lange Syndrome', 'Stickler Syndrome', 'Ataxia Telangiectasia', 'Kawasaki Disease', 'Batten Disease', 'Mucolipidosis IV', 'Klippel-Feil Syndrome', 'Multiple Endocrine Neoplasia', 'Atypical Hemolytic Uremic Syndrome', 'Undiagnosed', 'Uncommon Disease', 'Kabuki Syndrome', 'Hypersomnia', 'Hyperacusis', 'Kleine-Levin Syndrome', 'Marinesco-Sjogren Syndrome', 'Leiomyosarcoma', '4p-/Wolf-Hirschhorn Syndrome', 'Hypophosphatasia', 'Narcolepsy', 'Wiedermann-Steiner Syndrome', 'Breast Implant-Associated Anaplastic Large Cell Lymphoma', 'Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA)', 'Hemophagocytic Lymphohistiocytosis (HLH)', 'Behcet's Disease', 'Alagille Syndrome', 'Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)', 'Lowe Syndrome', 'Pitt Hopkins Syndrome', '1p36 deletion syndrome', 'Jansen metaphyseal chondrodysplasia', 'Cockayne Syndrome', 'Chronic recurrent multifocal osteomyelitis (CRMO)', 'Malan syndrome', 'Hereditary Sensory and Autonomic Neuropathy', 'Cystinosis', 'Juvenile nephropathic cystinosis', 'Nephropathic infantile cystinosis', 'Ocular cystinosis', 'Kennedy disease', 'Spinal Bulbar Muscular Atrophy (SBMA)', 'SMC1A Truncated Mutations (causing loss of gene function)', 'Leigh syndrome', 'Warburg Micro Syndrome', 'Mucolipidosis', 'Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)', 'Shine Syndrome', 'Hypertrophic Olivary Degeneration', 'Non-Ketotic Hyperglycinemia', 'Intestinal Bromhidrosis Syndrome', 'Fish odor syndrome', 'Autosomal recessive extra oral halitosis', 'CACNA1H mutation', 'Dimethylglycine dehydrogenase deficiency'], 'conditions': ['Rare Disorders', 'Undiagnosed Disorders', 'Disorders of Unknown Prevalence', 'Cornelia De Lange Syndrome', 'Prenatal Benign Hypophosphatasia', 'Perinatal Lethal Hypophosphatasia', 'Odontohypophosphatasia', 'Adult Hypophosphatasia', 'Childhood-onset Hypophosphatasia', 'Infantile Hypophosphatasia', 'Hypophosphatasia', 'Kabuki Syndrome', 'Bohring-Opitz Syndrome', 'Narcolepsy Without Cataplexy', 'Narcolepsy-cataplexy', 'Hypersomnolence Disorder', 'Idiopathic Hypersomnia Without Long Sleep Time', 'Idiopathic Hypersomnia With Long Sleep Time', 'Idiopathic Hypersomnia', 'Kleine-Levin Syndrome', 'Kawasaki Disease', 'Leiomyosarcoma', 'Leiomyosarcoma of the Corpus Uteri', 'Leiomyosarcoma of the Cervix Uteri', 'Leiomyosarcoma of Small Intestine', 'Acquired Myasthenia Gravis', 'Addison Disease', 'Hyperacusis (Hyperacousis)', 'Juvenile Myasthenia Gravis', 'Transient Neonatal Myasthenia Gravis', 'Williams Syndrome', 'Lyme Disease', 'Myasthenia Gravis', 'Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)', 'Isolated Klippel-Feil Syndrome', 'Frasier Syndrome', 'Denys-Drash Syndrome', 'Beckwith-Wiedemann Syndrome', 'Emanuel Syndrome', 'Isolated Aniridia', 'Axenfeld-Rieger Syndrome', 'Aniridia-intellectual Disability Syndrome', 'Aniridia - Renal Agenesis - Psychomotor Retardation', 'Aniridia - Ptosis - Intellectual Disability - Familial Obesity', 'Aniridia - Cerebellar Ataxia - Intellectual Disability', 'Aniridia - Absent Patella', 'Aniridia', 'Peters Anomaly - Cataract', 'Peters Anomaly', 'Potocki-Shaffer Syndrome', 'Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11', 'Silver-Russell Syndrome Due to Imprinting Defect of 11p15', 'Silver-Russell Syndrome Due to 11p15 Microduplication', 'Syndromic Aniridia', 'WAGR Syndrome', 'Wolf-Hirschhorn Syndrome', '4p16.3 Microduplication Syndrome', '4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome', 'Autosomal Recessive Stickler Syndrome', 'Stickler Syndrome Type 2', 'Stickler Syndrome Type 1', 'Stickler Syndrome', 'Mucolipidosis Type 4', 'X-linked Spinocerebellar Ataxia Type 4', 'X-linked Spinocerebellar Ataxia Type 3', 'X-linked Intellectual Disability - Ataxia - Apraxia', 'X-linked Progressive Cerebellar Ataxia', 'X-linked Non Progressive Cerebellar Ataxia', 'X-linked Cerebellar Ataxia', 'Vitamin B12 Deficiency Ataxia', 'Toxic Exposure Ataxia', 'Unclassified Autosomal Dominant Spinocerebellar Ataxia', 'Thyroid Antibody Ataxia', 'Sporadic Adult-onset Ataxia of Unknown Etiology', 'Spinocerebellar Ataxia With Oculomotor Anomaly', 'Spinocerebellar Ataxia With Epilepsy', 'Spinocerebellar Ataxia With Axonal Neuropathy Type 2', 'Spinocerebellar Ataxia Type 8', 'Spinocerebellar Ataxia Type 7', 'Spinocerebellar Ataxia Type 6', 'Spinocerebellar Ataxia Type 5', 'Spinocerebellar Ataxia Type 4', 'Spinocerebellar Ataxia Type 37', 'Spinocerebellar Ataxia Type 36', 'Spinocerebellar Ataxia Type 35', 'Spinocerebellar Ataxia Type 34', 'Spinocerebellar Ataxia Type 32', 'Spinocerebellar Ataxia Type 31', 'Spinocerebellar Ataxia Type 30', 'Spinocerebellar Ataxia Type 3', 'Spinocerebellar Ataxia Type 29', 'Spinocerebellar Ataxia Type 28', 'Spinocerebellar Ataxia Type 27', 'Spinocerebellar Ataxia Type 26', 'Spinocerebellar Ataxia Type 25', 'Spinocerebellar Ataxia Type 23', 'Spinocerebellar Ataxia Type 22', 'Spinocerebellar Ataxia Type 21', 'Spinocerebellar Ataxia Type 20', 'Spinocerebellar Ataxia Type 2', 'Spinocerebellar Ataxia Type 19/22', 'Spinocerebellar Ataxia Type 18', 'Spinocerebellar Ataxia Type 17', 'Spinocerebellar Ataxia Type 16', 'Spinocerebellar Ataxia Type 15/16', 'Spinocerebellar Ataxia Type 14', 'Spinocerebellar Ataxia Type 13', 'Spinocerebellar Ataxia Type 12', 'Spinocerebellar Ataxia Type 11', 'Spinocerebellar Ataxia Type 10', 'Spinocerebellar Ataxia Type 1 With Axonal Neuropathy', 'Spinocerebellar Ataxia Type 1', 'Spinocerebellar Ataxia - Unknown', 'Spinocerebellar Ataxia - Dysmorphism', 'Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature', 'Spasticity-ataxia-gait Anomalies Syndrome', 'Spastic Ataxia With Congenital Miosis', 'Spastic Ataxia - Corneal Dystrophy', 'Spastic Ataxia', 'Rare Hereditary Ataxia', 'Rare Ataxia', 'Recessive Mitochondrial Ataxia Syndrome', 'Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature', 'Posterior Column Ataxia - Retinitis Pigmentosa', 'Post-Stroke Ataxia', 'Post-Head Injury Ataxia', 'Post Vaccination Ataxia', 'Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract', 'Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus', 'Non-hereditary Degenerative Ataxia', 'Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity', 'Olivopontocerebellar Atrophy - Deafness', 'NARP Syndrome', 'Myoclonus - Cerebellar Ataxia - Deafness', 'Multiple System Atrophy, Parkinsonian Type', 'Multiple System Atrophy, Cerebellar Type', 'Multiple System Atrophy', 'Maternally-inherited Leigh Syndrome', 'Machado-Joseph Disease Type 3', 'Machado-Joseph Disease Type 2', 'Machado-Joseph Disease Type 1', 'Leigh Syndrome', 'Late-onset Ataxia With Dementia', 'Infection or Post Infection Ataxia', 'GAD Ataxia', 'Hereditary Episodic Ataxia', 'Gliadin/Gluten Ataxia', 'Friedreich Ataxia', 'Fragile X-associated Tremor/Ataxia Syndrome', 'Familial Paroxysmal Ataxia', 'Exposure to Medications Ataxia', 'Episodic Ataxia With Slurred Speech', 'Episodic Ataxia Unknown Type', 'Episodic Ataxia Type 7', 'Episodic Ataxia Type 6', 'Episodic Ataxia Type 5', 'Episodic Ataxia Type 4', 'Episodic Ataxia Type 3', 'Episodic Ataxia Type 1', 'Epilepsy and/or Ataxia With Myoclonus as Major Feature', 'Early-onset Spastic Ataxia-neuropathy Syndrome', 'Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity', 'Early-onset Cerebellar Ataxia With Retained Tendon Reflexes', 'Early-onset Ataxia With Dementia', 'Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia', 'Dilated Cardiomyopathy With Ataxia', 'Cataract - Ataxia - Deafness', 'Cerebellar Ataxia, Cayman Type', 'Cerebellar Ataxia With Peripheral Neuropathy', 'Cerebellar Ataxia - Hypogonadism', 'Cerebellar Ataxia - Ectodermal Dysplasia', 'Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss', 'Brain Tumor Ataxia', 'Brachydactyly - Nystagmus - Cerebellar Ataxia', 'Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia', 'Autosomal Recessive Syndromic Cerebellar Ataxia', 'Autosomal Recessive Spastic Ataxia With Leukoencephalopathy', 'Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay', 'Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria', 'Autosomal Recessive Spastic Ataxia', 'Autosomal Recessive Metabolic Cerebellar Ataxia', 'Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine', 'Autosomal Recessive Ataxia, Beauce Type', 'Autosomal Recessive Ataxia Due to Ubiquinone Deficiency', 'Autosomal Recessive Ataxia Due to PEX10 Deficiency', 'Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia', 'Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency', 'Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency', 'Autosomal Recessive Congenital Cerebellar Ataxia', 'Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome', 'Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency', 'Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency', 'Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency', 'Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome', 'Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity', 'Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency', 'Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect', 'Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion', 'Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation', 'Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness', 'Autosomal Recessive Cerebellar Ataxia', 'Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly', 'Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation', 'Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy', 'Autosomal Dominant Spastic Ataxia Type 1', 'Autosomal Dominant Spastic Ataxia', 'Autosomal Dominant Optic Atrophy', 'Ataxia-telangiectasia Variant', 'Ataxia-telangiectasia', 'Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy', 'Autosomal Dominant Cerebellar Ataxia Type 4', 'Autosomal Dominant Cerebellar Ataxia Type 3', 'Autosomal Dominant Cerebellar Ataxia Type 2', 'Autosomal Dominant Cerebellar Ataxia Type 1', 'Autosomal Dominant Cerebellar Ataxia', 'Ataxia-telangiectasia-like Disorder', 'Ataxia With Vitamin E Deficiency', 'Ataxia With Dementia', 'Ataxia - Oculomotor Apraxia Type 1', 'Ataxia - Other', 'Ataxia - Genetic Diagnosis - Unknown', 'Acquired Ataxia', 'Adult-onset Autosomal Recessive Cerebellar Ataxia', 'Alcohol Related Ataxia', 'Multiple Endocrine Neoplasia', 'Multiple Endocrine Neoplasia Type II', 'Multiple Endocrine Neoplasia Type 1', 'Multiple Endocrine Neoplasia Type 2', 'Multiple Endocrine Neoplasia, Type IV', 'Multiple Endocrine Neoplasia, Type 3', 'Multiple Endocrine Neoplasia (MEN) Syndrome', 'Multiple Endocrine Neoplasia Type 2B', 'Multiple Endocrine Neoplasia Type 2A', 'Atypical Hemolytic Uremic Syndrome', 'Atypical HUS', 'Wiedemann-Steiner Syndrome', 'Breast Implant-Associated Anaplastic Large Cell Lymphoma', 'Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)', 'Hemophagocytic Lymphohistiocytosis', 'Behcet's Disease', 'Alagille Syndrome', 'Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)', 'Lowe Syndrome', 'Pitt Hopkins Syndrome', '1p36 Deletion Syndrome', 'Jansen Type Metaphyseal Chondrodysplasia', 'Cockayne Syndrome', 'Chronic Recurrent Multifocal Osteomyelitis', 'CRMO', 'Malan Syndrome', 'Hereditary Sensory and Autonomic Neuropathy Type Ie', 'VCP Disease', 'Hypnic Jerking', 'Sleep Myoclonus', 'Mollaret Meningitis', 'Recurrent Viral Meningitis', 'CRB1', 'Leber Congenital Amaurosis', 'Retinitis Pigmentosa', 'Rare Retinal Disorder', 'KCNMA1-Channelopathy', 'Primary Biliary Cirrhosis', 'ZMYND11', 'Transient Global Amnesia', 'Glycogen Storage Disease', 'Alstrom Syndrome', 'White Sutton Syndrome', 'DNM1', 'EIEE31', 'Myhre Syndrome', 'Recurrent Respiratory Papillomatosis', 'Laryngeal Papillomatosis', 'Tracheal Papillomatosis', 'Refsum Disease', 'Nicolaides Baraitser Syndrome', 'Leukodystrophy', 'Tango2', 'Cauda Equina Syndrome', 'Rare Gastrointestinal Disorders', 'Achalasia-Addisonian Syndrome', 'Achalasia Cardia', 'Achalasia Icrocephaly Syndrome', 'Anal Fistula', 'Congenital Sucrase-Isomaltase Deficiency', 'Eosinophilic Gastroenteritis', 'Idiopathic Gastroparesis', 'Hirschsprung Disease', 'Rare Inflammatory Bowel Disease', 'Intestinal Pseudo-Obstruction', 'Scleroderma', 'Short Bowel Syndrome', 'Sacral Agenesis', 'Sacral Agenesis Syndrome', 'Caudal Regression', 'Scheuermann Disease', 'SMC1A Truncated Mutations (Causing Loss of Gene Function)', 'Cystinosis', 'Juvenile Nephropathic Cystinosis', 'Nephropathic Cystinosis', 'Kennedy Disease', 'Spinal Bulbar Muscular Atrophy', 'Warburg Micro Syndrome', 'Mucolipidoses', 'Mitochondrial Diseases', 'Mitochondrial Aminoacyl-tRNA Synthetases', 'Mt-aaRS Disorders', 'Hypertrophic Olivary Degeneration', 'Non-Ketotic Hyperglycinemia', 'Fish Odor Syndrome', 'Halitosis', 'Isolated Congenital Asplenia', 'Lambert Eaton (LEMS)', 'Biliary Atresia', 'STAG1 Gene Mutation', 'Coffin Lowry Syndrome', 'Borjeson-Forssman-Lehman Syndrome', 'Blau Syndrome', 'Arginase 1 Deficiency', 'HSPB8 Myopathy', 'Beta-Mannosidosis', 'TBX4 Syndrome', 'DHDDS Gene Mutations', 'MAND-MBD5-Associated Neurodevelopmental Disorder', 'Constitutional Mismatch Repair Deficiency (CMMRD)', 'SPATA5 Disorder', 'SPATA5L1 Related Disorder', 'Acrodysostosis', 'Multi-systematic Smooth Muscle Dysfunction Syndrome', 'CRELD1 (Cysteine Rich With EGF Like Domains 1)', 'GNB1 Syndrome', 'Pyruvate Dehydrogenase Complex Deficiency Disease', 'Beta Mannosidosis', 'Kbg Syndrome', 'Labrune Syndrome', 'Metachromatic Leukodystrophy (MLD)', 'Moyamoya Disease', 'OPHN1 Syndrome', 'Oculopharyngeal Muscular Dystrophy (OPMD)', 'TUBB3 Mutation', 'WOREE (WWOX-related Epileptic Encephalopathy', 'SCAR12', 'Skraban-Deardorff Syndrome', 'Hereditary Myopathy With Early Respiratory Failure']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://www.sanfordresearch.org/SpecialPrograms/cords/', 'label': 'CoRDS homepage'}, {'url': 'https://cordsconnect.sanfordresearch.org/BayaPES/sf/screeningForm?id=SFSFL#', 'label': 'CoRDS Screening Form'}, {'url': 'https://cordsconnect.sanfordresearch.org/BayaPES/pp/participantLogin#', 'label': 'CoRDS Participant Login'}]}, 'descriptionModule': {'briefSummary': 'CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.', 'detailedDescription': "CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS:\n\n* Contact information: Name, Mailing Address, Phone Number, Email Address\n* Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity\n* Health information: Family History, Information related to Diagnosis\n\nDe-identified information in CoRDS will be made available to researchers, if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher's institution and (2) a panel of experts.\n\nA subset of de-identified information collected from each profile may be shared with certain other databases. This is done in order to help improve understanding of rare diseases, to avoid the duplication of efforts and to collaborate with existing research efforts with organizations dedicated to rare diseases.\n\nParticipants may elect to have their information shared with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for Research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.\n\nThe CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient Advocacy Groups (PAGs) for access to information in CoRDS.\n\nIf a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS.\n\nCoRDS contacts participants annually to confirm continued interest in participation in CoRDS, and to request that participants update the information they have provided."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Unaffected carriers, undiagnosed and those with a rare disease or rare condition.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare'}, 'identificationModule': {'nctId': 'NCT01793168', 'acronym': 'CoRDS', 'briefTitle': 'Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford', 'organization': {'class': 'OTHER', 'fullName': 'Sanford Health'}, 'officialTitle': 'Coordination of Rare Diseases at Sanford', 'orgStudyIdInfo': {'id': '03-10-014'}, 'secondaryIdInfos': [{'id': 'Hypersomnia Foundation', 'type': 'REGISTRY', 'domain': 'Hypersomnia Registry'}, {'id': 'National Ataxia Foundation', 'type': 'REGISTRY', 'domain': 'Ataxia Registry'}, {'id': '4p- Support Group', 'type': 'REGISTRY', 'domain': '4p-/Wolfhirschhorn Syndrome Registry'}, {'id': 'CdLS Foundation', 'type': 'REGISTRY', 'domain': 'Cornelia de Lange Syndrome Registry'}, {'id': 'Hyperacusis Research Limited', 'type': 'REGISTRY', 'domain': 'Hyperacusis Registry'}, {'id': 'Kabuki Syndrome Network', 'type': 'REGISTRY', 'domain': 'Kabuki Syndrome Registry'}, {'id': 'Kawasaki Disease Foundation', 'type': 'REGISTRY', 'domain': 'Kawasaki Disease Registry'}, {'id': 'Klippel-Feil Syndrome Freedom', 'type': 'REGISTRY', 'domain': 'Klippel-Feil Syndrome Registry'}, {'id': 'Leiomyosarcoma Direct Research', 'type': 'REGISTRY', 'domain': 'Leiomyosarcoma Registry'}, {'id': 'MSS Support Group', 'type': 'REGISTRY', 'domain': 'Marinesco-Sjogren Syndrome Registry'}, {'id': 'ML4 Foundation', 'type': 'REGISTRY', 'domain': 'Mucolipidosis Type IV (ML4) Registry'}, {'id': 'Stickler Involved People', 'type': 'REGISTRY', 'domain': 'Stickler Syndrome Registry'}, {'id': 'IWSA', 'type': 'REGISTRY', 'domain': 'WAGR Syndrome Registry'}, {'id': 'Soft Bones', 'type': 'REGISTRY', 'domain': 'Hypophosphatasia Registry'}, {'id': 'PWN4PWN', 'type': 'REGISTRY', 'domain': 'Narcolepsy Registry'}, {'id': 'aHUS', 'type': 'REGISTRY', 'domain': 'aHUS Registry'}, {'id': 'Klippel-Feil Syndrome Alliance', 'type': 'REGISTRY', 'domain': 'KFS Registry'}, {'id': 'American MEN Support', 'type': 'REGISTRY', 'domain': 'Mulitiple Endocrine Neoplasia Registry'}, {'id': 'Kleine-Levin Syndrome', 'type': 'REGISTRY', 'domain': 'Kleine-Levin Syndrome Registry'}, {'id': 'All Things Kabuki', 'type': 'REGISTRY', 'domain': 'Kabuki Syndrome Registry'}, {'id': 'WSS Foundation', 'type': 'REGISTRY', 'domain': 'Wiedemann-Steiner Syndrome Registry'}, {'id': 'BIVA', 'type': 'REGISTRY', 'domain': 'Brest Implant-Associated ALCL Registry'}, {'id': 'ABDA', 'type': 'REGISTRY', 'domain': "American Bechet's Disease Association Registry"}, {'id': 'PROS Foundation (HLH)', 'type': 'REGISTRY', 'domain': '(HLH) Registry'}, {'id': 'Alagille Syndrome Association', 'type': 'REGISTRY', 'domain': 'Alagillle Syndrome Registry'}, {'id': 'Cure VCP Disease, Inc.', 'type': 'REGISTRY', 'domain': 'IBMPFD Registry'}, {'id': 'Lowe Syndrome Association', 'type': 'REGISTRY', 'domain': 'Lowe Syndrome Registry'}, {'id': 'Pitt Hopkins', 'type': 'REGISTRY', 'domain': 'Pitt Hopkins Registry'}, {'id': 'Cure Batten Disease', 'type': 'REGISTRY', 'domain': 'Batten Disease Registry'}, {'id': 'Hypnic Jerk/Sleep Myoclonus', 'type': 'REGISTRY', 'domain': 'Hypnic Jerk/Sleep Myoclonus Registry'}, {'id': '1p36 DSA', 'type': 'REGISTRY', 'domain': '1p36 Deletion Syndrome Registry'}, {'id': 'Jansen Foundation', 'type': 'REGISTRY', 'domain': 'The Jansen Foundation Registry'}, {'id': 'Share and Care Network', 'type': 'REGISTRY', 'domain': 'Cockayne Syndrome Registry'}, {'id': 'CRMO', 'type': 'REGISTRY', 'domain': 'CRMO Registry'}, {'id': 'The Malan Syndrome Foundation', 'type': 'REGISTRY', 'domain': 'Malan Syndrome Registry'}, {'id': 'HSAN1E Society', 'type': 'REGISTRY', 'domain': 'HSAN1E Registry'}, {'id': 'Alstrom United Kingdomg', 'type': 'REGISTRY', 'domain': 'Alstrom United Kingdom Registry'}, {'id': 'Athymia', 'type': 'REGISTRY', 'domain': 'Athymia Registry'}, {'id': 'CRB1 Foundation', 'type': 'REGISTRY', 'domain': 'Curing Retinal Blindness Foundation Registry'}, {'id': 'DNM1 Families', 'type': 'REGISTRY', 'domain': 'DNM1 Mutations Registry'}, {'id': 'Global DARE Foundation', 'type': 'REGISTRY', 'domain': 'Global DARE Foundation Registry'}, {'id': 'KCIAF', 'type': 'REGISTRY', 'domain': 'KCNMA1 Channelopathy International Advocacy Foundation Registry'}, {'id': 'MSUD FSG', 'type': 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Acrodysostosis Support and Research Registry'}, {'id': 'ACTA2 Alliance', 'type': 'REGISTRY', 'domain': 'ACTA2 Alliance Registry'}, {'id': 'ANA-Aniridia North America', 'type': 'REGISTRY', 'domain': 'ANA-Aniridia North America Registry'}, {'id': 'APDS Advocacy Coalition', 'type': 'REGISTRY', 'domain': 'APDS Advocacy Coalition'}, {'id': 'CRELD1 Warriors', 'type': 'REGISTRY', 'domain': 'CRELD1 Warriors'}, {'id': 'GNB1 Advocacy Group', 'type': 'REGISTRY', 'domain': 'GNB1 Advocacy Group'}, {'id': 'Hope for PDCD Foundation', 'type': 'REGISTRY', 'domain': 'Hope for PDCD Foundation'}, {'id': 'ISMRD - Beta Mannosidosis', 'type': 'REGISTRY', 'domain': 'ISMRD - Beta Mannosidosis'}, {'id': 'KBG Syndrome Association', 'type': 'REGISTRY', 'domain': 'KBG Syndrome Association Registry'}, {'id': 'The LCC Foundation', 'type': 'REGISTRY', 'domain': 'The LCC Foundation Registry'}, {'id': 'MLD Foundation', 'type': 'REGISTRY', 'domain': 'MLD Foundation Registry'}, {'id': 'MSA United Research', 'type': 'REGISTRY', 'domain': 'MSA United Research Consortium Registry'}, {'id': 'Moyamoya Foundation', 'type': 'REGISTRY', 'domain': 'Moyamoya Foundation Registry'}, {'id': 'OPHN1', 'type': 'REGISTRY', 'domain': 'OPHN1 Registry'}, {'id': 'OPMD Association', 'type': 'REGISTRY', 'domain': 'OPMD Association Registry'}, {'id': 'SKDEAS Foundation', 'type': 'REGISTRY', 'domain': 'SKDEAS Foundation Registry'}, {'id': "Foundation for Casey's Cure", 'type': 'REGISTRY', 'domain': "The Foundation for Casey's Cure Registry"}, {'id': 'TUBB3 Foundation', 'type': 'REGISTRY', 'domain': 'TUBB3 Foundation Registry'}, {'id': 'WWOX Foundation', 'type': 'REGISTRY', 'domain': 'WWOX Foundation Registry'}]}, 'contactsLocationsModule': {'locations': [{'zip': '57104', 'city': 'Sioux Falls', 'state': 'South Dakota', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'CoRDS Team', 'role': 'CONTACT', 'email': 'cords@sanfordhealth.org', 'phone': '1-877-658-9192'}, {'name': 'Benjamin Forred, MBA', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Sanford Health', 'geoPoint': {'lat': 43.54369, 'lon': -96.72796}}, {'city': 'Sydney', 'status': 'RECRUITING', 'country': 'Australia', 'contacts': [{'name': 'CoRDS Team', 'role': 'CONTACT', 'email': 'cords@sanfordhealth.org', 'phone': '1-877-6589192'}], 'facility': 'Online Patient Enrollment System', 'geoPoint': {'lat': -33.86785, 'lon': 151.20732}}], 'centralContacts': [{'name': 'CoRDS Team', 'role': 'CONTACT', 'email': 'cords@sanfordhealth.org', 'phone': '1-877-658-9192'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'YES', 'description': 'Deidentified participant data is shared with contracted patient advocacy groups for non-research purposes. Parties interested in accessing data are welcome to apply (cost-free) at http://www.sanfordresearch.org/cords/researchers/.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Sanford Health', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Ataxia Foundation', 'class': 'OTHER'}, {'name': 'International WAGR Syndrome Association', 'class': 'UNKNOWN'}, {'name': '4p- Support Group', 'class': 'OTHER'}, {'name': 'ML4 Foundation', 'class': 'UNKNOWN'}, {'name': 'Cornelia de Lange Syndrome Foundation', 'class': 'UNKNOWN'}, {'name': 'Stickler Involved People', 'class': 'UNKNOWN'}, {'name': 'Kawasaki Disease Foundation', 'class': 'UNKNOWN'}, {'name': 'Klippel-Feil Syndrome Alliance', 'class': 'UNKNOWN'}, {'name': 'Klippel-Feil Syndrome Freedom', 'class': 'UNKNOWN'}, {'name': 'Hyperacusis Research Limited', 'class': 'UNKNOWN'}, {'name': 'Hypersomnia Foundation', 'class': 'UNKNOWN'}, {'name': 'Kabuki Syndrome Network', 'class': 'OTHER'}, {'name': 'Kleine-Levin Syndrome Foundation', 'class': 'UNKNOWN'}, {'name': 'Leiomyosarcoma Direct Research Foundation', 'class': 'UNKNOWN'}, {'name': 'Marinesco-Sjogren Syndrome Support Group - 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