Last updated on March 2019

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Unclassified Autosomal Dominant Spinocerebellar Ataxia | Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion | Ataxia - Photosensitivity - Short Stature | Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency | Perinatal Lethal Hypophosphatasia | Aniridia - Renal Agenesis - Psychomotor Retardation | Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome | Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD) | Spinocerebellar ataxia | Episodic Ataxia Type 4 | Wiedemann-Steiner Syndrome | Ataxia With Vitamin E Deficiency | Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome | Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome | Bohring-Opitz Syndrome | Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness | Spastic Ataxia | Vitamin B12 Deficiency Ataxia | Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract | Cornelia De Lange Syndrome | Aniridia - Ptosis - Intellectual Disability - Familial Obesity | Brain Tumor Ataxia | Autosomal Recessive Ataxia | Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency | Cerebellar Ataxia - Ectodermal Dysplasia | Infection or Post Infection Ataxia | Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation | Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | Childhood-onset Hypophosphatasia | Exposure to Medications Ataxia | Lyme Disease | Spinocerebellar Ataxia - Dysmorphism | Posterior Column Ataxia - Retinitis Pigmentosa | 4p Deletion Syndrome | Isolated Klippel-Feil Syndrome | Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity | Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema | Williams Syndrome | Autosomal Dominant Cerebellar Ataxia Type 3 | Rare Hereditary Ataxia | Spinocerebellar Ataxia Type 13 | Ataxia - Hypogonadism - Choroidal Dystrophy | Frasier Syndrome | Wermer Syndrome | Spinocerebellar Ataxia With Oculomotor Anomaly | Lethal Ataxia With Deafness and Optic Atrophy | Leiomyosarcoma of the Cervix Uteri | Autosomal Recessive Metabolic Cerebellar Ataxia | Cerebellar Ataxia With Peripheral Neuropathy | Syndromic Aniridia | Hypersomnia | Autosomal Dominant Cerebellar Ataxia Type 2 | Autosomal Dominant Cerebellar Ataxia Type 1 | Isolated Aniridia | GAD Ataxia | Deafness and Narcolepsy | Spinocerebellar Ataxia Type 14 | Juvenile Myasthenia Gravis | X-linked Spinocerebellar Ataxia Type 3 | X-linked Spinocerebellar Ataxia Type 4 | Autosomal Recessive Ataxia Due to PEX10 Deficiency | Autosomal Recessive Spastic Ataxia | Maternally-inherited Leigh Syndrome | 4p16.3 Microduplication Syndrome | Ataxia Neuropathy Spectrum | Brachydactyly - Nystagmus - Cerebellar Ataxia | Aniridia-intellectual Disability Syndrome | Marinesco-Sjogren syndrome | Peters Anomaly | Gliadin/Gluten Ataxia | Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) | Odontohypophosphatasia | Kabuki Syndrome | Ataxia-telangiectasia Variant | Spectrin-associated Autosomal Recessive Cerebellar Ataxia | Atypical HUS | Acquired Ataxia | Recessive Mitochondrial Ataxia Syndrome | Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria | Autosomal Recessive Spastic Ataxia With Leukoencephalopathy | Disorders of Unknown Prevalence | WAGR Syndrome | Spinocerebellar Ataxia Type 18 | Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion | Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly | Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication | Myasthenia Gravis | Spinocerebellar Ataxia Type 10 | Spinocerebellar Ataxia With Axonal Neuropathy Type 2 | Spinocerebellar Ataxia Type 12 | Leigh Syndrome With Leukodystrophy | Aniridia | Spinocerebellar Ataxia Type 17 | Spinocerebellar Ataxia Type 16 | Atypical Hemolytic Uremic Syndrome | Epilepsy and/or Ataxia With Myoclonus as Major Feature | Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation | Adrenoleukodystrophy | Infantile Onset Spinocerebellar Ataxia | Ataxia - Genetic Diagnosis - Unknown | Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome | Cerebellar Ataxia | Mucolipidosis Type 4 | Infantile Hypophosphatasia | Ataxia - Other | Narcolepsy Without Cataplexy | Denys-Drash Syndrome | Hereditary Episodic Ataxia | Machado-Joseph Disease Type 1 | Machado-Joseph Disease Type 2 | Machado-Joseph Disease Type 3 | Fragile X-associated Tremor/Ataxia Syndrome | X-linked Cerebellar Ataxia | Aniridia - Cerebellar Ataxia - Intellectual Disability | Spinocerebellar Ataxia Type 27 | Spinocerebellar Ataxia Type 20 | Spinocerebellar Ataxia Type 21 | Spinocerebellar Ataxia Type 22 | Spinocerebellar Ataxia Type 23 | Beauce Type | Stickler Syndrome | Spinocerebellar Ataxia Type 28 | Spinocerebellar Ataxia Type 29 | Ataxia Telangiectasia | Leigh Syndrome With Nephrotic Syndrome | Prenatal Benign Hypophosphatasia | Non-progressive Cerebellar Ataxia With Intellectual Disability | Spinocerebellar Ataxia Type 8 | Machado-Joseph Disease | Olivopontocerebellar Atrophy - Deafness | Multiple Endocrine Neoplasia | Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency | Leigh's disease | Rare Ataxia | Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion | Spinocerebellar Ataxia - Unknown | Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 | Autosomal Dominant Spastic Ataxia | Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia | Sipple's syndrome | Non-hereditary Degenerative Ataxia | Addison's Disease | Spinocerebellar Ataxia Type 1 With Axonal Neuropathy | Spinocerebellar Ataxia Type 32 | Spinocerebellar Ataxia Type 25 | Adult-onset Autosomal Recessive Cerebellar Ataxia | Undiagnosed Disorders | Sporadic Adult-onset Ataxia of Unknown Etiology | Autosomal Recessive Stickler Syndrome | Spinocerebellar Ataxia Type 31 | Spinocerebellar Ataxia Type 30 | Emanuel Syndrome | Hyperacusis | Spinocerebellar Ataxia Type 35 | Aniridia - Absent Patella | Episodic Ataxia Type 6 | Spinocerebellar Ataxia Type 37 | Beckwith-Wiedemann Syndrome | Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination | Episodic Ataxia Type 3 | Spinocerebellar Ataxia Type 36 | Autosomal Recessive Cerebellar Ataxia | Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus | Parkinsonian Type | Spinocerebellar Ataxia With Epilepsy | Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect | Idiopathic Hypersomnia Without Long Sleep Time | Cataract - Ataxia - Deafness | Breast Implant-Associated Anaplastic Large Cell Lymphoma | Wolf-Hirschhorn Syndrome | Alcohol Related Ataxia | Myoclonus - Cerebellar Ataxia - Deafness | Episodic Ataxia Unknown Type | Post-Head Injury Ataxia | Autosomal Dominant Spastic Ataxia Type 1 | Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 | Silver-Russell Syndrome Due to Imprinting Defect of 11p15 | Late-onset Ataxia With Dementia | Early-onset Ataxia With Dementia | Post Vaccination Ataxia | Episodic Ataxia Type 5 | Silver-Russell Syndrome Due to 11p15 Microduplication | Spastic Ataxia - Corneal Dystrophy | Ataxia-telangiectasia-like Disorder | Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine | Spasticity-ataxia-gait Anomalies Syndrome | Early-onset Cerebellar Ataxia With Retained Tendon Reflexes | Spinocerebellar Ataxia Type 34 | Leiomyosarcoma of the Corpus Uteri | Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia | Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity | Autosomal Recessive Ataxia Due to Ubiquinone Deficiency | Autosomal Dominant Cerebellar Ataxia Type 4 | Episodic Ataxia Type 1 | Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature | Ataxia With Dementia | Spinocerebellar Ataxia Type 19/22 | Autosomal dominant optic atrophy | Hemophagocytic lymphohistiocytosis | Ataxia - Pancytopenia | Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency | Behcet's Syndrome | Type IV | Dilated Cardiomyopathy With Ataxia | Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 | Narcolepsy | Idiopathic Hypersomnia | Kawasaki Disease | Alagille Syndrome | X-linked Intellectual Disability - Ataxia - Apraxia | Autosomal Recessive Syndromic Cerebellar Ataxia | Early-onset Spastic Ataxia-neuropathy Syndrome | leiomyosarcoma | X-linked Progressive Cerebellar Ataxia | Rare Disorders | Shy-Drager Syndrome | Stickler Syndrome Type 2 | Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity | Stickler Syndrome Type 1 | Multiple Endocrine Neoplasia Type 2b | Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss | Cerebellar Type | Spinocerebellar Ataxia Type 26 | Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia | Acquired Myasthenia Gravis | Post-Stroke Ataxia | Ataxia - Oculomotor Apraxia Type 1 | Ataxia - Tapetoretinal Degeneration | Neonatal Myasthenia Gravis | Friedreich's Ataxia | Adult Hypophosphatasia | Lyme Disease Vaccine | X-linked Non Progressive Cerebellar Ataxia | Spastic Ataxia With Congenital Miosis | Cerebellar Ataxia - Hypogonadism | Axenfeld-Rieger Syndrome | Hypophosphatasia | Thyroid Antibody Ataxia | Pitt Hopkins Syndrome | Episodic Ataxia With Slurred Speech | Spinocerebellar Ataxia Type 11 | Leigh Syndrome With Cardiomyopathy | Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency | Idiopathic Hypersomnia With Long Sleep Time | Kleine-Levin Syndrome | Toxic Exposure Ataxia | Autosomal Dominant Cerebellar Ataxia | Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature | Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy | Non-Wolf-Hirschhorn Syndrome | Potocki-Shaffer Syndrome | Spinocerebellar Ataxia Type 15/16 | Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency | Multiple System Atrophy | Familial Paroxysmal Ataxia | NARP Syndrome | Oculocerebrorenal Syndrome | Leiomyosarcoma of Small Intestine | Peters Anomaly - Cataract | Autosomal Recessive Congenital Cerebellar Ataxia | Ataxia-deafness-intellectual Disability Syndrome | Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia | Episodic Ataxia Type 7 | Cayman Type
  • Age: - 100 Years
  • Gender: Male or Female

Inclusion Criteria:

  • Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease

Exclusion Criteria:

  • Diagnosis of a disease which is not rare

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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