Ignite Creation Date:
2024-05-06 @ 1:22 AM
Last Modification Date:
2024-10-26 @ 11:03 AM
Study NCT ID:
NCT01793168
Status:
RECRUITING
Last Update Posted:
2024-01-19
First Post:
2013-02-13
Brief Title:
Rare Disease Patient Registry Natural History Study - Coordination of Rare Diseases at Sanford
Sponsor:
Sanford Health
Organization:
Sanford Health
Conditions & Keywords Data
Conditions:
| Name |
|---|
| 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 SyndromeMarinesco-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 |
| 4p163 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 1922 |
| Spinocerebellar Ataxia Type 18 |
| Spinocerebellar Ataxia Type 17 |
| Spinocerebellar Ataxia Type 16 |
| Spinocerebellar Ataxia Type 1516 |
| 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 andor 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 andor 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 |
| GliadinGluten Ataxia |
| Friedreich Ataxia |
| Fragile X-associated TremorAtaxia 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 andor 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 |
| AutoimmuneInflammatory Syndrome Induced by Adjuvants ASIA |
| Hemophagocytic Lymphohistiocytosis |
| Behcets 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 |
Keywords:
| Name | View |
|---|---|
| Rare Diseases | View |
| Neglected Diseases | View |
| Orphan Diseases | View |
| Rare Disease Research | View |
| Registries | View |
| WAGR Syndrome | View |
| Ataxia | View |
| Cornelia de Lange Syndrome | View |
| Stickler Syndrome | View |
| Ataxia Telangiectasia | View |
| Kawasaki Disease | View |
| Batten Disease | View |
| Mucolipidosis IV | View |
| Klippel-Feil Syndrome | View |
| Multiple Endocrine Neoplasia | View |
| Atypical Hemolytic Uremic Syndrome | View |
| Undiagnosed | View |
| Uncommon Disease | View |
| Kabuki Syndrome | View |
| Hypersomnia | View |
| Hyperacusis | View |
| Kleine-Levin Syndrome | View |
| Marinesco-Sjogren Syndrome | View |
| Leiomyosarcoma | View |
| 4p-Wolf-Hirschhorn Syndrome | View |
| Hypophosphatasia | View |
| Narcolepsy | View |
| Wiedermann-Steiner Syndrome | View |
| Breast Implant-Associated Anaplastic Large Cell Lymphoma | View |
| Autoimmuneinflammatory Syndrome Induced by Adjuvants ASIA | View |
| Hemophagocytic Lymphohistiocytosis HLH | View |
| Behcets Disease | View |
| Alagille Syndrome | View |
| Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia IBMPFD | View |
| Lowe Syndrome | View |
| Pitt Hopkins Syndrome | View |
| 1p36 deletion syndrome | View |
| Jansen metaphyseal chondrodysplasia | View |
| Cockayne Syndrome | View |
| Chronic recurrent multifocal osteomyelitis CRMO | View |
| Malan syndrome | View |
| Hereditary Sensory and Autonomic Neuropathy | View |
| Cystinosis | View |
| Juvenile nephropathic cystinosis | View |
| Nephropathic infantile cystinosis | View |
| Ocular cystinosis | View |
| Kennedy disease | View |
| Spinal Bulbar Muscular Atrophy SBMA | View |
| SMC1A Truncated Mutations causing loss of gene function | View |
| Leigh syndrome | View |
| Warburg Micro Syndrome | View |
| Mucolipidosis | View |
| Mitochondrial aminoacyl-tRNA synthetases Mt-aaRS Disorders | View |
| Shine Syndrome | View |
| Hypertrophic Olivary Degeneration | View |
| Non-Ketotic Hyperglycinemia | View |
| Intestinal Bromhidrosis Syndrome | View |
| Fish odor syndrome | View |
| Autosomal recessive extra oral halitosis | View |
| CACNA1H mutation | View |
| Dimethylglycine dehydrogenase deficiency | View |