ClinicalTrials.gov record
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
ClinicalTrials.gov ID: NCT01793168
Public ClinicalTrials.gov record NCT01793168. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
ClinicalTrials.gov public records Last synced May 8, 2026, 8:09 AM EDT
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Coordination of Rare Diseases at Sanford
Study identification
- NCT ID
- NCT01793168
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Lead sponsor
- Sanford Health
- Other
- Enrollment
- 20,000 participants
Conditions and interventions
Conditions
- 1p36 Deletion Syndrome
- 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
- 4p16.3 Microduplication Syndrome
- Achalasia Cardia
- Achalasia Icrocephaly Syndrome
- Achalasia-Addisonian Syndrome
- Acquired Ataxia
- Acquired Myasthenia Gravis
- Acrodysostosis
- Addison Disease
- Adult Hypophosphatasia
- Adult-onset Autosomal Recessive Cerebellar Ataxia
- Alagille Syndrome
- Alcohol Related Ataxia
- Alstrom Syndrome
- Anal Fistula
- Aniridia
- Aniridia - Absent Patella
- Aniridia - Cerebellar Ataxia - Intellectual Disability
- Aniridia - Ptosis - Intellectual Disability - Familial Obesity
- Aniridia - Renal Agenesis - Psychomotor Retardation
- Aniridia-intellectual Disability Syndrome
- Arginase 1 Deficiency
- Ataxia - Genetic Diagnosis - Unknown
- Ataxia - Oculomotor Apraxia Type 1
- Ataxia - Other
- Ataxia With Dementia
- Ataxia With Vitamin E Deficiency
- Ataxia-telangiectasia
- Ataxia-telangiectasia Variant
- Ataxia-telangiectasia-like Disorder
- Atypical HUS
- Atypical Hemolytic Uremic Syndrome
- Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)
- Autosomal Dominant Cerebellar Ataxia
- Autosomal Dominant Cerebellar Ataxia Type 1
- Autosomal Dominant Cerebellar Ataxia Type 2
- Autosomal Dominant Cerebellar Ataxia Type 3
- Autosomal Dominant Cerebellar Ataxia Type 4
- Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
- Autosomal Dominant Optic Atrophy
- Autosomal Dominant Spastic Ataxia
- Autosomal Dominant Spastic Ataxia Type 1
- Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine
- Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy
- Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation
- Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly
- Autosomal Recessive Ataxia Due to PEX10 Deficiency
- Autosomal Recessive Ataxia Due to Ubiquinone Deficiency
- Autosomal Recessive Ataxia, Beauce Type
- Autosomal Recessive Cerebellar Ataxia
- Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness
- Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation
- Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion
- Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency
- Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect
- Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity
- Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome
- Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency
- Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency
- Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency
- Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome
- Autosomal Recessive Congenital Cerebellar Ataxia
- Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency
- Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency
- Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia
- Autosomal Recessive Metabolic Cerebellar Ataxia
- Autosomal Recessive Spastic Ataxia
- Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria
- Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Autosomal Recessive Stickler Syndrome
- Autosomal Recessive Syndromic Cerebellar Ataxia
- Axenfeld-Rieger Syndrome
- Beckwith-Wiedemann Syndrome
- Behcet's Disease
- Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia
- Beta Mannosidosis
- Beta-Mannosidosis
- Biliary Atresia
- Blau Syndrome
- Bohring-Opitz Syndrome
- Borjeson-Forssman-Lehman Syndrome
- Brachydactyly - Nystagmus - Cerebellar Ataxia
- Brain Tumor Ataxia
- Breast Implant-Associated Anaplastic Large Cell Lymphoma
- CRB1
- CRELD1 (Cysteine Rich With EGF Like Domains 1)
- CRMO
- Cataract - Ataxia - Deafness
- Cauda Equina Syndrome
- Caudal Regression
- Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
- Cerebellar Ataxia - Ectodermal Dysplasia
- Cerebellar Ataxia - Hypogonadism
- Cerebellar Ataxia With Peripheral Neuropathy
- Cerebellar Ataxia, Cayman Type
- Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
- Childhood-onset Hypophosphatasia
- Chronic Recurrent Multifocal Osteomyelitis
- Cockayne Syndrome
- Coffin Lowry Syndrome
- Congenital Sucrase-Isomaltase Deficiency
- Constitutional Mismatch Repair Deficiency (CMMRD)
- Cornelia De Lange Syndrome
- Cystinosis
- DHDDS Gene Mutations
- DNM1
- Denys-Drash Syndrome
- Dilated Cardiomyopathy With Ataxia
- Disorders of Unknown Prevalence
- EIEE31
- Early-onset Ataxia With Dementia
- Early-onset Cerebellar Ataxia With Retained Tendon Reflexes
- Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity
- Early-onset Spastic Ataxia-neuropathy Syndrome
- Emanuel Syndrome
- Eosinophilic Gastroenteritis
- Epilepsy and/or Ataxia With Myoclonus as Major Feature
- Episodic Ataxia Type 1
- Episodic Ataxia Type 3
- Episodic Ataxia Type 4
- Episodic Ataxia Type 5
- Episodic Ataxia Type 6
- Episodic Ataxia Type 7
- Episodic Ataxia Unknown Type
- Episodic Ataxia With Slurred Speech
- Exposure to Medications Ataxia
- Familial Paroxysmal Ataxia
- Fish Odor Syndrome
- Fragile X-associated Tremor/Ataxia Syndrome
- Frasier Syndrome
- Friedreich Ataxia
- GAD Ataxia
- GNB1 Syndrome
- Gliadin/Gluten Ataxia
- Glycogen Storage Disease
- HSPB8 Myopathy
- Halitosis
- Hemophagocytic Lymphohistiocytosis
- Hereditary Episodic Ataxia
- Hereditary Myopathy With Early Respiratory Failure
- Hereditary Sensory and Autonomic Neuropathy Type Ie
- Hirschsprung Disease
- Hyperacusis (Hyperacousis)
- Hypersomnolence Disorder
- Hypertrophic Olivary Degeneration
- Hypnic Jerking
- Hypophosphatasia
- Idiopathic Gastroparesis
- Idiopathic Hypersomnia
- Idiopathic Hypersomnia With Long Sleep Time
- Idiopathic Hypersomnia Without Long Sleep Time
- Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)
- Infantile Hypophosphatasia
- Infection or Post Infection Ataxia
- Intestinal Pseudo-Obstruction
- Isolated Aniridia
- Isolated Congenital Asplenia
- Isolated Klippel-Feil Syndrome
- Jansen Type Metaphyseal Chondrodysplasia
- Juvenile Myasthenia Gravis
- Juvenile Nephropathic Cystinosis
- KCNMA1-Channelopathy
- Kabuki Syndrome
- Kawasaki Disease
- Kbg Syndrome
- Kennedy Disease
- Kleine-Levin Syndrome
- Labrune Syndrome
- Lambert Eaton (LEMS)
- Laryngeal Papillomatosis
- Late-onset Ataxia With Dementia
- Leber Congenital Amaurosis
- Leigh Syndrome
- Leiomyosarcoma
- Leiomyosarcoma of Small Intestine
- Leiomyosarcoma of the Cervix Uteri
- Leiomyosarcoma of the Corpus Uteri
- Leukodystrophy
- Lowe Syndrome
- Lyme Disease
- MAND-MBD5-Associated Neurodevelopmental Disorder
- Machado-Joseph Disease Type 1
- Machado-Joseph Disease Type 2
- Machado-Joseph Disease Type 3
- Malan Syndrome
- Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)
- Maternally-inherited Leigh Syndrome
- Metachromatic Leukodystrophy (MLD)
- Mitochondrial Aminoacyl-tRNA Synthetases
- Mitochondrial Diseases
- Mollaret Meningitis
- Moyamoya Disease
- Mt-aaRS Disorders
- Mucolipidoses
- Mucolipidosis Type 4
- Multi-systematic Smooth Muscle Dysfunction Syndrome
- Multiple Endocrine Neoplasia
- Multiple Endocrine Neoplasia (MEN) Syndrome
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 2
- Multiple Endocrine Neoplasia Type 2A
- Multiple Endocrine Neoplasia Type 2B
- Multiple Endocrine Neoplasia Type II
- Multiple Endocrine Neoplasia, Type 3
- Multiple Endocrine Neoplasia, Type IV
- Multiple System Atrophy
- Multiple System Atrophy, Cerebellar Type
- Multiple System Atrophy, Parkinsonian Type
- Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus
- Myasthenia Gravis
- Myhre Syndrome
- Myoclonus - Cerebellar Ataxia - Deafness
- NARP Syndrome
- Narcolepsy Without Cataplexy
- Narcolepsy-cataplexy
- Nephropathic Cystinosis
- Nicolaides Baraitser Syndrome
- Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
- Non-Ketotic Hyperglycinemia
- Non-hereditary Degenerative Ataxia
- OPHN1 Syndrome
- Oculopharyngeal Muscular Dystrophy (OPMD)
- Odontohypophosphatasia
- Olivopontocerebellar Atrophy - Deafness
- Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity
- Perinatal Lethal Hypophosphatasia
- Peters Anomaly
- Peters Anomaly - Cataract
- Pitt Hopkins Syndrome
- Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract
- Post Vaccination Ataxia
- Post-Head Injury Ataxia
- Post-Stroke Ataxia
- Posterior Column Ataxia - Retinitis Pigmentosa
- Potocki-Shaffer Syndrome
- Prenatal Benign Hypophosphatasia
- Primary Biliary Cirrhosis
- Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Rare Ataxia
- Rare Disorders
- Rare Gastrointestinal Disorders
- Rare Hereditary Ataxia
- Rare Inflammatory Bowel Disease
- Rare Retinal Disorder
- Recessive Mitochondrial Ataxia Syndrome
- Recurrent Respiratory Papillomatosis
- Recurrent Viral Meningitis
- Refsum Disease
- Retinitis Pigmentosa
- SCAR12
- SMC1A Truncated Mutations (Causing Loss of Gene Function)
- SPATA5 Disorder
- SPATA5L1 Related Disorder
- STAG1 Gene Mutation
- Sacral Agenesis
- Sacral Agenesis Syndrome
- Scheuermann Disease
- Scleroderma
- Short Bowel Syndrome
- Silver-Russell Syndrome Due to 11p15 Microduplication
- Silver-Russell Syndrome Due to Imprinting Defect of 11p15
- Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
- Skraban-Deardorff Syndrome
- Sleep Myoclonus
- Spastic Ataxia
- Spastic Ataxia - Corneal Dystrophy
- Spastic Ataxia With Congenital Miosis
- Spasticity-ataxia-gait Anomalies Syndrome
- Spinal Bulbar Muscular Atrophy
- Spinocerebellar Ataxia - Dysmorphism
- Spinocerebellar Ataxia - Unknown
- Spinocerebellar Ataxia Type 1
- Spinocerebellar Ataxia Type 1 With Axonal Neuropathy
- Spinocerebellar Ataxia Type 10
- Spinocerebellar Ataxia Type 11
- Spinocerebellar Ataxia Type 12
- Spinocerebellar Ataxia Type 13
- Spinocerebellar Ataxia Type 14
- Spinocerebellar Ataxia Type 15/16
- Spinocerebellar Ataxia Type 16
- Spinocerebellar Ataxia Type 17
- Spinocerebellar Ataxia Type 18
- Spinocerebellar Ataxia Type 19/22
- Spinocerebellar Ataxia Type 2
- Spinocerebellar Ataxia Type 20
- Spinocerebellar Ataxia Type 21
- Spinocerebellar Ataxia Type 22
- Spinocerebellar Ataxia Type 23
- Spinocerebellar Ataxia Type 25
- Spinocerebellar Ataxia Type 26
- Spinocerebellar Ataxia Type 27
- Spinocerebellar Ataxia Type 28
- Spinocerebellar Ataxia Type 29
- Spinocerebellar Ataxia Type 3
- Spinocerebellar Ataxia Type 30
- Spinocerebellar Ataxia Type 31
- Spinocerebellar Ataxia Type 32
- Spinocerebellar Ataxia Type 34
- Spinocerebellar Ataxia Type 35
- Spinocerebellar Ataxia Type 36
- Spinocerebellar Ataxia Type 37
- Spinocerebellar Ataxia Type 4
- Spinocerebellar Ataxia Type 5
- Spinocerebellar Ataxia Type 6
- Spinocerebellar Ataxia Type 7
- Spinocerebellar Ataxia Type 8
- Spinocerebellar Ataxia With Axonal Neuropathy Type 2
- Spinocerebellar Ataxia With Epilepsy
- Spinocerebellar Ataxia With Oculomotor Anomaly
- Sporadic Adult-onset Ataxia of Unknown Etiology
- Stickler Syndrome
- Stickler Syndrome Type 1
- Stickler Syndrome Type 2
- Syndromic Aniridia
- TBX4 Syndrome
- TUBB3 Mutation
- Tango2
- Thyroid Antibody Ataxia
- Toxic Exposure Ataxia
- Tracheal Papillomatosis
- Transient Global Amnesia
- Transient Neonatal Myasthenia Gravis
- Unclassified Autosomal Dominant Spinocerebellar Ataxia
- Undiagnosed Disorders
- VCP Disease
- Vitamin B12 Deficiency Ataxia
- WAGR Syndrome
- WOREE (WWOX-related Epileptic Encephalopathy
- Warburg Micro Syndrome
- White Sutton Syndrome
- Wiedemann-Steiner Syndrome
- Williams Syndrome
- Wolf-Hirschhorn Syndrome
- X-linked Cerebellar Ataxia
- X-linked Intellectual Disability - Ataxia - Apraxia
- X-linked Non Progressive Cerebellar Ataxia
- X-linked Progressive Cerebellar Ataxia
- X-linked Spinocerebellar Ataxia Type 3
- X-linked Spinocerebellar Ataxia Type 4
- ZMYND11
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jun 30, 2010
- Primary completion
- Nov 30, 2100
- Completion
- Nov 30, 2100
- Last update posted
- May 28, 2025
2010 – 2100
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Sanford Health | Sioux Falls | South Dakota | 57104 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
Non-U.S. locations
This page focuses on the U.S. directory. The official record also lists 1 non-U.S. site.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01793168, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted May 28, 2025 · Synced May 8, 2026
Related: full search, browse by condition, browse by drug or therapy, browse by sponsor, browse by U.S. city.
Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01793168 live on ClinicalTrials.gov.