Viewing Study NCT01793168

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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: Sanford Health
Organization:
Overview Dates Organization Conditions Design Enrollment Locations Outcomes Modules Raw JSON

Conditions & Keywords Data

Conditions:

Conditions

Condition Brief Condition Text View
None Rare Disorders View
None Undiagnosed Disorders View
None Disorders of Unknown Prevalence View
None Cornelia De Lange Syndrome View
None Prenatal Benign Hypophosphatasia View
None Perinatal Lethal Hypophosphatasia View
None Odontohypophosphatasia View
None Adult Hypophosphatasia View
None Childhood-onset Hypophosphatasia View
None Infantile Hypophosphatasia View
None Hypophosphatasia View
None Kabuki Syndrome View
None Bohring-Opitz Syndrome View
None Narcolepsy Without Cataplexy View
None Narcolepsy-cataplexy View
None Hypersomnolence Disorder View
None Idiopathic Hypersomnia Without Long Sleep Time View
None Idiopathic Hypersomnia With Long Sleep Time View
None Idiopathic Hypersomnia View
None Kleine-Levin Syndrome View
None Kawasaki Disease View
None Leiomyosarcoma View
None Leiomyosarcoma of the Corpus Uteri View
None Leiomyosarcoma of the Cervix Uteri View
None Leiomyosarcoma of Small Intestine View
None Acquired Myasthenia Gravis View
None Addison Disease View
None Hyperacusis (Hyperacousis) View
None Juvenile Myasthenia Gravis View
None Transient Neonatal Myasthenia Gravis View
None Williams Syndrome View
None Lyme Disease View
None Myasthenia Gravis View
None Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome) View
None Isolated Klippel-Feil Syndrome View
None Frasier Syndrome View
None Denys-Drash Syndrome View
None Beckwith-Wiedemann Syndrome View
None Emanuel Syndrome View
None Isolated Aniridia View
None Axenfeld-Rieger Syndrome View
None Aniridia-intellectual Disability Syndrome View
None Aniridia - Renal Agenesis - Psychomotor Retardation View
None Aniridia - Ptosis - Intellectual Disability - Familial Obesity View
None Aniridia - Cerebellar Ataxia - Intellectual Disability View
None Aniridia - Absent Patella View
None Aniridia View
None Peters Anomaly - Cataract View
None Peters Anomaly View
None Potocki-Shaffer Syndrome View
None Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 View
None Silver-Russell Syndrome Due to Imprinting Defect of 11p15 View
None Silver-Russell Syndrome Due to 11p15 Microduplication View
None Syndromic Aniridia View
None WAGR Syndrome View
None Wolf-Hirschhorn Syndrome View
None 4p16.3 Microduplication Syndrome View
None 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome View
None Autosomal Recessive Stickler Syndrome View
None Stickler Syndrome Type 2 View
None Stickler Syndrome Type 1 View
None Stickler Syndrome View
None Mucolipidosis Type 4 View
None X-linked Spinocerebellar Ataxia Type 4 View
None X-linked Spinocerebellar Ataxia Type 3 View
None X-linked Intellectual Disability - Ataxia - Apraxia View
None X-linked Progressive Cerebellar Ataxia View
None X-linked Non Progressive Cerebellar Ataxia View
None X-linked Cerebellar Ataxia View
None Vitamin B12 Deficiency Ataxia View
None Toxic Exposure Ataxia View
None Unclassified Autosomal Dominant Spinocerebellar Ataxia View
None Thyroid Antibody Ataxia View
None Sporadic Adult-onset Ataxia of Unknown Etiology View
None Spinocerebellar Ataxia With Oculomotor Anomaly View
None Spinocerebellar Ataxia With Epilepsy View
None Spinocerebellar Ataxia With Axonal Neuropathy Type 2 View
None Spinocerebellar Ataxia Type 8 View
None Spinocerebellar Ataxia Type 7 View
None Spinocerebellar Ataxia Type 6 View
None Spinocerebellar Ataxia Type 5 View
None Spinocerebellar Ataxia Type 4 View
None Spinocerebellar Ataxia Type 37 View
None Spinocerebellar Ataxia Type 36 View
None Spinocerebellar Ataxia Type 35 View
None Spinocerebellar Ataxia Type 34 View
None Spinocerebellar Ataxia Type 32 View
None Spinocerebellar Ataxia Type 31 View
None Spinocerebellar Ataxia Type 30 View
None Spinocerebellar Ataxia Type 3 View
None Spinocerebellar Ataxia Type 29 View
None Spinocerebellar Ataxia Type 28 View
None Spinocerebellar Ataxia Type 27 View
None Spinocerebellar Ataxia Type 26 View
None Spinocerebellar Ataxia Type 25 View
None Spinocerebellar Ataxia Type 23 View
None Spinocerebellar Ataxia Type 22 View
None Spinocerebellar Ataxia Type 21 View
None Spinocerebellar Ataxia Type 20 View
None Spinocerebellar Ataxia Type 2 View
None Spinocerebellar Ataxia Type 19/22 View
None Spinocerebellar Ataxia Type 18 View
None Spinocerebellar Ataxia Type 17 View
None Spinocerebellar Ataxia Type 16 View
None Spinocerebellar Ataxia Type 15/16 View
None Spinocerebellar Ataxia Type 14 View
None Spinocerebellar Ataxia Type 13 View
None Spinocerebellar Ataxia Type 12 View
None Spinocerebellar Ataxia Type 11 View
None Spinocerebellar Ataxia Type 10 View
None Spinocerebellar Ataxia Type 1 With Axonal Neuropathy View
None Spinocerebellar Ataxia Type 1 View
None Spinocerebellar Ataxia - Unknown View
None Spinocerebellar Ataxia - Dysmorphism View
None Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major … View
None Spasticity-ataxia-gait Anomalies Syndrome View
None Spastic Ataxia With Congenital Miosis View
None Spastic Ataxia - Corneal Dystrophy View
None Spastic Ataxia View
None Rare Hereditary Ataxia View
None Rare Ataxia View
None Recessive Mitochondrial Ataxia Syndrome View
None Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature View
None Posterior Column Ataxia - Retinitis Pigmentosa View
None Post-Stroke Ataxia View
None Post-Head Injury Ataxia View
None Post Vaccination Ataxia View
None Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - … View
None Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus View
None Non-hereditary Degenerative Ataxia View
None Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity View
None Olivopontocerebellar Atrophy - Deafness View
None NARP Syndrome View
None Myoclonus - Cerebellar Ataxia - Deafness View
None Multiple System Atrophy, Parkinsonian Type View
None Multiple System Atrophy, Cerebellar Type View
None Multiple System Atrophy View
None Maternally-inherited Leigh Syndrome View
None Machado-Joseph Disease Type 3 View
None Machado-Joseph Disease Type 2 View
None Machado-Joseph Disease Type 1 View
None Leigh Syndrome View
None Late-onset Ataxia With Dementia View
None Infection or Post Infection Ataxia View
None GAD Ataxia View
None Hereditary Episodic Ataxia View
None Gliadin/Gluten Ataxia View
None Friedreich Ataxia View
None Fragile X-associated Tremor/Ataxia Syndrome View
None Familial Paroxysmal Ataxia View
None Exposure to Medications Ataxia View
None Episodic Ataxia With Slurred Speech View
None Episodic Ataxia Unknown Type View
None Episodic Ataxia Type 7 View
None Episodic Ataxia Type 6 View
None Episodic Ataxia Type 5 View
None Episodic Ataxia Type 4 View
None Episodic Ataxia Type 3 View
None Episodic Ataxia Type 1 View
None Epilepsy and/or Ataxia With Myoclonus as Major Feature View
None Early-onset Spastic Ataxia-neuropathy Syndrome View
None Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity View
None Early-onset Cerebellar Ataxia With Retained Tendon Reflexes View
None Early-onset Ataxia With Dementia View
None Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia View
None Dilated Cardiomyopathy With Ataxia View
None Cataract - Ataxia - Deafness View
None Cerebellar Ataxia, Cayman Type View
None Cerebellar Ataxia With Peripheral Neuropathy View
None Cerebellar Ataxia - Hypogonadism View
None Cerebellar Ataxia - Ectodermal Dysplasia View
None Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy … View
None Brain Tumor Ataxia View
None Brachydactyly - Nystagmus - Cerebellar Ataxia View
None Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia View
None Autosomal Recessive Syndromic Cerebellar Ataxia View
None Autosomal Recessive Spastic Ataxia With Leukoencephalopathy View
None Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay View
None Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria View
None Autosomal Recessive Spastic Ataxia View
None Autosomal Recessive Metabolic Cerebellar Ataxia View
None Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do … View
None Autosomal Recessive Ataxia, Beauce Type View
None Autosomal Recessive Ataxia Due to Ubiquinone Deficiency View
None Autosomal Recessive Ataxia Due to PEX10 Deficiency View
None Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia View
None Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency View
None Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency View
None Autosomal Recessive Congenital Cerebellar Ataxia View
None Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome View
None Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency View
None Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency View
None Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency View
None Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome View
None Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity View
None Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency View
None Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect View
None Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion View
None Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation View
None Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness View
None Autosomal Recessive Cerebellar Ataxia View
None Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly View
None Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation View
None Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy View
None Autosomal Dominant Spastic Ataxia Type 1 View
None Autosomal Dominant Spastic Ataxia View
None Autosomal Dominant Optic Atrophy View
None Ataxia-telangiectasia Variant View
None Ataxia-telangiectasia View
None Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy View
None Autosomal Dominant Cerebellar Ataxia Type 4 View
None Autosomal Dominant Cerebellar Ataxia Type 3 View
None Autosomal Dominant Cerebellar Ataxia Type 2 View
None Autosomal Dominant Cerebellar Ataxia Type 1 View
None Autosomal Dominant Cerebellar Ataxia View
None Ataxia-telangiectasia-like Disorder View
None Ataxia With Vitamin E Deficiency View
None Ataxia With Dementia View
None Ataxia - Oculomotor Apraxia Type 1 View
None Ataxia - Other View
None Ataxia - Genetic Diagnosis - Unknown View
None Acquired Ataxia View
None Adult-onset Autosomal Recessive Cerebellar Ataxia View
None Alcohol Related Ataxia View
None Multiple Endocrine Neoplasia View
None Multiple Endocrine Neoplasia Type II View
None Multiple Endocrine Neoplasia Type 1 View
None Multiple Endocrine Neoplasia Type 2 View
None Multiple Endocrine Neoplasia, Type IV View
None Multiple Endocrine Neoplasia, Type 3 View
None Multiple Endocrine Neoplasia (MEN) Syndrome View
None Multiple Endocrine Neoplasia Type 2B View
None Multiple Endocrine Neoplasia Type 2A View
None Atypical Hemolytic Uremic Syndrome View
None Atypical HUS View
None Wiedemann-Steiner Syndrome View
None Breast Implant-Associated Anaplastic Large Cell Lymphoma View
None Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) View
None Hemophagocytic Lymphohistiocytosis View
None Behcet's Disease View
None Alagille Syndrome View
None Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia … View
None Lowe Syndrome View
None Pitt Hopkins Syndrome View
None 1p36 Deletion Syndrome View
None Jansen Type Metaphyseal Chondrodysplasia View
None Cockayne Syndrome View
None Chronic Recurrent Multifocal Osteomyelitis View
None CRMO View
None Malan Syndrome View
None Hereditary Sensory and Autonomic Neuropathy Type Ie View
None VCP Disease View
None Hypnic Jerking View
None Sleep Myoclonus View
None Mollaret Meningitis View
None Recurrent Viral Meningitis View
None CRB1 View
None Leber Congenital Amaurosis View
None Retinitis Pigmentosa View
None Rare Retinal Disorder View
None KCNMA1-Channelopathy View
None Primary Biliary Cirrhosis View
None ZMYND11 View
None Transient Global Amnesia View
None Glycogen Storage Disease View
None Alstrom Syndrome View
None White Sutton Syndrome View
None DNM1 View
None EIEE31 View
None Myhre Syndrome View
None Recurrent Respiratory Papillomatosis View
None Laryngeal Papillomatosis View
None Tracheal Papillomatosis View
None Refsum Disease View
None Nicolaides Baraitser Syndrome View
None Leukodystrophy View
None Tango2 View
None Cauda Equina Syndrome View
None Rare Gastrointestinal Disorders View
None Achalasia-Addisonian Syndrome View
None Achalasia Cardia View
None Achalasia Icrocephaly Syndrome View
None Anal Fistula View
None Congenital Sucrase-Isomaltase Deficiency View
None Eosinophilic Gastroenteritis View
None Idiopathic Gastroparesis View
None Hirschsprung Disease View
None Rare Inflammatory Bowel Disease View
None Intestinal Pseudo-Obstruction View
None Scleroderma View
None Short Bowel Syndrome View
None Sacral Agenesis View
None Sacral Agenesis Syndrome View
None Caudal Regression View
None Scheuermann Disease View
None SMC1A Truncated Mutations (Causing Loss of Gene Function) View
None Cystinosis View
None Juvenile Nephropathic Cystinosis View
None Nephropathic Cystinosis View
None Kennedy Disease View
None Spinal Bulbar Muscular Atrophy View
None Warburg Micro Syndrome View
None Mucolipidoses View
None Mitochondrial Diseases View
None Mitochondrial Aminoacyl-tRNA Synthetases View
None Mt-aaRS Disorders View
None Hypertrophic Olivary Degeneration View
None Non-Ketotic Hyperglycinemia View
None Fish Odor Syndrome View
None Halitosis View
None Isolated Congenital Asplenia View
None Lambert Eaton (LEMS) View
None Biliary Atresia View
None STAG1 Gene Mutation View
None Coffin Lowry Syndrome View
None Borjeson-Forssman-Lehman Syndrome View
None Blau Syndrome View
None Arginase 1 Deficiency View
None HSPB8 Myopathy View
None Beta-Mannosidosis View
None TBX4 Syndrome View
None DHDDS Gene Mutations View
None MAND-MBD5-Associated Neurodevelopmental Disorder View
None Constitutional Mismatch Repair Deficiency (CMMRD) View
None SPATA5 Disorder View
None SPATA5L1 Related Disorder View
None Acrodysostosis View
None Multi-systematic Smooth Muscle Dysfunction Syndrome View
None CRELD1 (Cysteine Rich With EGF Like Domains 1) View
None GNB1 Syndrome View
None Pyruvate Dehydrogenase Complex Deficiency Disease View
None Beta Mannosidosis View
None Kbg Syndrome View
None Labrune Syndrome View
None Metachromatic Leukodystrophy (MLD) View
None Moyamoya Disease View
None OPHN1 Syndrome View
None Oculopharyngeal Muscular Dystrophy (OPMD) View
None TUBB3 Mutation View
None WOREE (WWOX-related Epileptic Encephalopathy View
None SCAR12 View
None Skraban-Deardorff Syndrome View
None Hereditary Myopathy With Early Respiratory Failure View
Keywords:

Keywords

Keyword Brief Keyword Text View
None Rare Diseases View
None Neglected Diseases View
None Orphan Diseases View
None Rare Disease Research View
None Registries View
None WAGR Syndrome View
None Ataxia View
None Cornelia de Lange Syndrome View
None Stickler Syndrome View
None Ataxia Telangiectasia View
None Kawasaki Disease View
None Batten Disease View
None Mucolipidosis IV View
None Klippel-Feil Syndrome View
None Multiple Endocrine Neoplasia View
None Atypical Hemolytic Uremic Syndrome View
None Undiagnosed View
None Uncommon Disease View
None Kabuki Syndrome View
None Hypersomnia View
None Hyperacusis View
None Kleine-Levin Syndrome View
None Marinesco-Sjogren Syndrome View
None Leiomyosarcoma View
None 4p-/Wolf-Hirschhorn Syndrome View
None Hypophosphatasia View
None Narcolepsy View
None Wiedermann-Steiner Syndrome View
None Breast Implant-Associated Anaplastic Large Cell Lymphoma View
None Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA) View
None Hemophagocytic Lymphohistiocytosis (HLH) View
None Behcet's Disease View
None Alagille Syndrome View
None Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia … View
None Lowe Syndrome View
None Pitt Hopkins Syndrome View
None 1p36 deletion syndrome View
None Jansen metaphyseal chondrodysplasia View
None Cockayne Syndrome View
None Chronic recurrent multifocal osteomyelitis (CRMO) View
None Malan syndrome View
None Hereditary Sensory and Autonomic Neuropathy View
None Cystinosis View
None Juvenile nephropathic cystinosis View
None Nephropathic infantile cystinosis View
None Ocular cystinosis View
None Kennedy disease View
None Spinal Bulbar Muscular Atrophy (SBMA) View
None SMC1A Truncated Mutations (causing loss of gene function) View
None Leigh syndrome View
None Warburg Micro Syndrome View
None Mucolipidosis View
None Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders) View
None Shine Syndrome View
None Hypertrophic Olivary Degeneration View
None Non-Ketotic Hyperglycinemia View
None Intestinal Bromhidrosis Syndrome View
None Fish odor syndrome View
None Autosomal recessive extra oral halitosis View
None CACNA1H mutation View
None Dimethylglycine dehydrogenase deficiency View