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

• Register: ClinicalTrials.gov
• Last refreshed on: 29 January 2024
• Main ID: NCT01793168
• Date of registration: 13/02/2013
• Prospective Registration: No
• Primary sponsor: Sanford Health
• Public title: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford CoRDS
• Scientific title: Coordination of Rare Diseases at Sanford
• Date of first enrolment: July 2010
• Target sample size: 20000
• Recruitment status: Recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT01793168
• Study type: Observational [Patient Registry]

Countries of recruitment

Australia, United States

Contacts

• Name: CoRDS Team

Key inclusion & exclusion criteria

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



Age minimum: N/A
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

4p16.3 Microduplication Syndrome

Achalasia Icrocephaly Syndrome

Aniridia

Aniridia - Absent Patella

Aniridia-intellectual Disability Syndrome

Ataxia - Other

Autosomal Dominant Cerebellar Ataxia

Autosomal Dominant Optic Atrophy

Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly

Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity

Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia

Cerebellar Ataxia, Cayman Type

Early-onset Spastic Ataxia-neuropathy Syndrome

Hypersomnolence Disorder

Hypertrophic Olivary Degeneration

Adult-onset Autosomal Recessive Cerebellar Ataxia

Alstrom Syndrome

Idiopathic Hypersomnia With Long Sleep Time

Leigh Syndrome

Achalasia Cardia

Acquired Myasthenia Gravis

Autosomal Dominant Cerebellar Ataxia Type 2

Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy

Achalasia-Addisonian Syndrome

Ataxia - Genetic Diagnosis - Unknown

Adult Hypophosphatasia

Arginase 1 Deficiency

1p36 Deletion Syndrome

4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome

Atypical Hemolytic Uremic Syndrome

Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)

Alagille Syndrome

Ataxia-telangiectasia-like Disorder

Ataxia-telangiectasia

Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine

Leiomyosarcoma of the Cervix Uteri

Leiomyosarcoma of the Corpus Uteri

Autosomal Dominant Cerebellar Ataxia Type 4

Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy

Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness

Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency

Machado-Joseph Disease Type 1

Malan Syndrome

Acquired Ataxia

Anal Fistula

Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Autosomal Dominant Spastic Ataxia

Autosomal Recessive Ataxia Due to PEX10 Deficiency

Autosomal Dominant Cerebellar Ataxia Type 1

Autosomal Dominant Spastic Ataxia Type 1

Mitochondrial Aminoacyl-tRNA Synthetases

Multiple Endocrine Neoplasia (MEN) Syndrome

Alcohol Related Ataxia

Aniridia - Cerebellar Ataxia - Intellectual Disability

Autosomal Recessive Metabolic Cerebellar Ataxia

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Autosomal Recessive Spastic Ataxia

Behcet's Disease

Ataxia - Oculomotor Apraxia Type 1

Ataxia With Dementia

Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome

Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome

Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation

Blau Syndrome

Multiple Endocrine Neoplasia Type 2B

Multiple Endocrine Neoplasia Type II

Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency

Autosomal Recessive Spastic Ataxia With Leukoencephalopathy

Borjeson-Forssman-Lehman Syndrome

Cataract - Ataxia - Deafness

Ataxia-telangiectasia Variant

Autosomal Recessive Ataxia Due to Ubiquinone Deficiency

Post-Head Injury Ataxia

Primary Biliary Cirrhosis

Ataxia With Vitamin E Deficiency

Autosomal Dominant Cerebellar Ataxia Type 3

Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation

Autosomal Recessive Ataxia, Beauce Type

Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency

Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia

Biliary Atresia

Bohring-Opitz Syndrome

Brachydactyly - Nystagmus - Cerebellar Ataxia

Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss

Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity

Breast Implant-Associated Anaplastic Large Cell Lymphoma

Cauda Equina Syndrome

Autosomal Recessive Cerebellar Ataxia

Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion

Cerebellar Ataxia - Ectodermal Dysplasia

Cystinosis

Autosomal Recessive Congenital Cerebellar Ataxia

Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency

Congenital Sucrase-Isomaltase Deficiency

Dilated Cardiomyopathy With Ataxia

Rare Inflammatory Bowel Disease

Sacral Agenesis Syndrome

Episodic Ataxia Type 3

Episodic Ataxia Type 4

Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency

Silver-Russell Syndrome Due to 11p15 Microduplication

Spinocerebellar Ataxia Type 28

Episodic Ataxia With Slurred Speech

Hyperacusis (Hyperacousis)

Beta-Mannosidosis

Caudal Regression

Coffin Lowry Syndrome

Spinocerebellar Ataxia Type 36

Undiagnosed Disorders

Idiopathic Hypersomnia

Isolated Aniridia

DNM1

Early-onset Ataxia With Dementia

Constitutional Mismatch Repair Deficiency (CMMRD)

DHDDS Gene Mutations

Juvenile Nephropathic Cystinosis

KCNMA1-Channelopathy

Kleine-Levin Syndrome

Leber Congenital Amaurosis

Early-onset Cerebellar Ataxia With Retained Tendon Reflexes

Episodic Ataxia Unknown Type

Familial Paroxysmal Ataxia

Fish Odor Syndrome

Machado-Joseph Disease Type 2

Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)

Cornelia De Lange Syndrome

Emanuel Syndrome

Axenfeld-Rieger Syndrome

Childhood-onset Hypophosphatasia

Disorders of Unknown Prevalence

Eosinophilic Gastroenteritis

Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 2

GAD Ataxia

Hirschsprung Disease

Idiopathic Hypersomnia Without Long Sleep Time

Episodic Ataxia Type 6

Fragile X-associated Tremor/Ataxia Syndrome

CRMO

EIEE31

Hypophosphatasia

Glycogen Storage Disease

Hemophagocytic Lymphohistiocytosis

Narcolepsy-cataplexy

Rare Disorders

Halitosis

Jansen Type Metaphyseal Chondrodysplasia

Infection or Post Infection Ataxia

Isolated Congenital Asplenia

Epilepsy and/or Ataxia With Myoclonus as Major Feature

Episodic Ataxia Type 5

Lambert Eaton (LEMS)

Machado-Joseph Disease Type 3

Mt-aaRS Disorders

Mucolipidosis Type 4

Episodic Ataxia Type 7

Gliadin/Gluten Ataxia

Leukodystrophy

Lyme Disease

Mucolipidoses

Myhre Syndrome

Non-Ketotic Hyperglycinemia

Hypnic Jerking

Idiopathic Gastroparesis

Recessive Mitochondrial Ataxia Syndrome

Silver-Russell Syndrome Due to Imprinting Defect of 11p15

HSPB8 Myopathy

Intestinal Pseudo-Obstruction

Perinatal Lethal Hypophosphatasia

Peters Anomaly - Cataract

Mitochondrial Diseases

Mollaret Meningitis

Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)

Pitt Hopkins Syndrome

Posterior Column Ataxia - Retinitis Pigmentosa

Isolated Klippel-Feil Syndrome

Kennedy Disease

Juvenile Myasthenia Gravis

Laryngeal Papillomatosis

Sleep Myoclonus

Spinocerebellar Ataxia - Dysmorphism

Late-onset Ataxia With Dementia

Maternally-inherited Leigh Syndrome

Multiple Endocrine Neoplasia, Type IV

Multiple System Atrophy, Parkinsonian Type

Spinocerebellar Ataxia Type 20

Spinocerebellar Ataxia Type 23

Retinitis Pigmentosa

Scleroderma

Spastic Ataxia

Rare Ataxia

Rare Hereditary Ataxia

Lowe Syndrome

Narcolepsy Without Cataplexy

Refsum Disease

Scheuermann Disease

Spinocerebellar Ataxia Type 26

Spinocerebellar Ataxia Type 29

Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11

Spinocerebellar Ataxia Type 1

Spinocerebellar Ataxia Type 34

Spinocerebellar Ataxia Type 5

Multiple Endocrine Neoplasia

Multiple Endocrine Neoplasia Type 2A

SPATA5L1 Related Disorder

Spinocerebellar Ataxia Type 12

Spinocerebellar Ataxia Type 8

Thyroid Antibody Ataxia

Multiple Endocrine Neoplasia, Type 3

Multiple System Atrophy

Spinocerebellar Ataxia Type 11

Spinocerebellar Ataxia Type 16

Spinocerebellar Ataxia Type 14

Spinocerebellar Ataxia Type 17

Multiple System Atrophy, Cerebellar Type

Myoclonus - Cerebellar Ataxia - Deafness

Spinocerebellar Ataxia Type 18

Spinocerebellar Ataxia Type 22

Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus

Nephropathic Cystinosis

Transient Global Amnesia

X-linked Cerebellar Ataxia

Spinocerebellar Ataxia Type 25

Spinocerebellar Ataxia Type 30

Non-hereditary Degenerative Ataxia

Odontohypophosphatasia

X-linked Spinocerebellar Ataxia Type 3

X-linked Spinocerebellar Ataxia Type 4

Spinocerebellar Ataxia Type 21

Spinocerebellar Ataxia Type 31

Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature

Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract

Rare Gastrointestinal Disorders

Recurrent Respiratory Papillomatosis

Spinocerebellar Ataxia Type 35

Spinocerebellar Ataxia Type 4

Spinocerebellar Ataxia Type 7

Toxic Exposure Ataxia

Short Bowel Syndrome

SMC1A Truncated Mutations (Causing Loss of Gene Function)

STAG1 Gene Mutation

WAGR Syndrome

Spastic Ataxia - Corneal Dystrophy

SPATA5 Disorder

NARP Syndrome

Olivopontocerebellar Atrophy - Deafness

Post-Stroke Ataxia

Rare Retinal Disorder

Sacral Agenesis

Spasticity-ataxia-gait Anomalies Syndrome

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Spinocerebellar Ataxia Type 10

Spinocerebellar Ataxia Type 13

Spinocerebellar Ataxia Type 3

Post Vaccination Ataxia

Prenatal Benign Hypophosphatasia

Tango2

White Sutton Syndrome

X-linked Non Progressive Cerebellar Ataxia

Warburg Micro Syndrome

Spinocerebellar Ataxia Type 6

Sporadic Adult-onset Ataxia of Unknown Etiology

Stickler Syndrome

Stickler Syndrome Type 1

Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature

Spinocerebellar Ataxia - Unknown

Stickler Syndrome Type 2

TBX4 Syndrome

Spinocerebellar Ataxia Type 27

Spinocerebellar Ataxia Type 32

Tracheal Papillomatosis

Unclassified Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxia Type 37

Transient Neonatal Myasthenia Gravis

VCP Disease

Wiedemann-Steiner Syndrome

X-linked Intellectual Disability - Ataxia - Apraxia

X-linked Progressive Cerebellar Ataxia

ZMYND11

Addison Disease

Aniridia - Renal Agenesis - Psychomotor Retardation

Atypical HUS

Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect

Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency

Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria

Autosomal Recessive Stickler Syndrome

Autosomal Recessive Syndromic Cerebellar Ataxia

Beckwith-Wiedemann Syndrome

Brain Tumor Ataxia

Cerebellar Ataxia - Hypogonadism

Cerebellar Ataxia With Peripheral Neuropathy

Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia

Chronic Recurrent Multifocal Osteomyelitis

Cockayne Syndrome

CRB1

Denys-Drash Syndrome

Episodic Ataxia Type 1

Exposure to Medications Ataxia

Frasier Syndrome

Friedreich Ataxia

Hereditary Episodic Ataxia

Hereditary Sensory and Autonomic Neuropathy Type Ie

Infantile Hypophosphatasia

Kabuki Syndrome

Kawasaki Disease

Leiomyosarcoma

Leiomyosarcoma of Small Intestine

MAND-MBD5-Associated Neurodevelopmental Disorder

Myasthenia Gravis

Nicolaides Baraitser Syndrome

Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity

Peters Anomaly

Potocki-Shaffer Syndrome

Recurrent Viral Meningitis

Spastic Ataxia With Congenital Miosis

Spinal Bulbar Muscular Atrophy

Spinocerebellar Ataxia Type 15/16

Spinocerebellar Ataxia Type 19/22

Spinocerebellar Ataxia Type 2

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

Spinocerebellar Ataxia With Epilepsy

Spinocerebellar Ataxia With Oculomotor Anomaly

Syndromic Aniridia

Vitamin B12 Deficiency Ataxia

Williams Syndrome

Wolf-Hirschhorn Syndrome

Primary Outcome(s)

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. [Time Frame: 100 years]

Secondary ID(s)

Cure Blau Syndrome Foundation

Cure VCP Disease, Inc.

HSAN1E Society

Hypersomnia Foundation

Kleine-Levin Syndrome

Leiomyosarcoma Direct Research

MANDKind Foundation

Myhre Syndrome Foundation

PBCers Organization

SHINE Syndrome Foundation

Soft Bones

STAG1 Gene Foundation

Zmynd11 Gene Disorder

Alstrom United Kingdomg

Aniridia North America

ARG1D Foundation

Athymia

Cauda Equina Foundation

Cure Batten Disease

Cystinosis Research Foundation

Endosalpingiosis Foundation

Lambert Eaton (LEMS) Family

Project Sebastian

SPATA Foundation

SPG11 and SPG15

SPG15 Research Foundation

The Malan Syndrome Foundation

Warburg Micro Research

All Things Kabuki

Cure Mito Foundation

HODA

IamGSD

IWSA

Kawasaki Disease Foundation

Klippel-Feil Syndrome Alliance

TGA Project

1p36 DSA

ABDA

CACNA1H Alliance

CdLS Foundation

IFFGD

IMBS Alliance

ISMRD - Beta Mannosidosis

Kennedy's Disease Assocation

Lowe Syndrome Association

Non-Ketotic Hyperglycinemia

PWN4PWN

Remember the Girls

Scheuermann's Disease Fund

Share and Care Network

SMC1A Epilepsy

Taylor's Tale Foundation

TBX4Life

Team Telomere

4p- Support Group

CURE HSPB8 Myopathy

ISACRA

Jansen Foundation

Klippel-Feil Syndrome Freedom

Krishnan Family Foundation

MSS Support Group

PROS Foundation (HLH)

Riaan Research Initiative

Tango2 Research Foundation

The Cute Syndrome Foundation

03-10-014

aHUS

BDSRA

DNM1 Families

Global DARE Foundation

Hyperacusis Research Limited

Hypnic Jerk/Sleep Myoclonus

Noah's Hope - Hope4Bridget

SKS Foundation

Team4Travis

Alagille Syndrome Association

American MEN Support

BIVA

Corpus Callosum Disorders

CRMO

Cure DHDDS

Kabuki Syndrome Network

KCIAF

MSUD FSG

National Ataxia Foundation

NCBRS

RRPF

Stickler Involved People

WSS Foundation

BARE Inc.

BLFS Incorporate

Coffin Lowry Syndrome

CRB1 Foundation

Cure Mucolipidosis

ML4 Foundation

Pitt Hopkins

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

1p36 Deletion Support and Awareness

Alstrom United Kingdom

American Behcet's Disease Association

Cure VCP Disease,INC

Hypersomnia Foundation

Jansen's Foundation

Kleine-Levin Syndrome Foundation

Life with LEMS Foundation

Maple Syrup Urine Disease Family Support Group

ML4 Foundation

Myhre Syndrome Foundation

PROS Foundation

SPATA Foundation

Zmynd11 Gene Disorder

ARG1D Foundation

HSAN1E Society

International WAGR Syndrome Association

KCNMA1 Channelopathy International Advocacy Foundation

People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)

Pitt Hopkins Research Foundation

All Things Kabuki

Atypical Hemolytic Uremic Syndrome Foundation

Bohring-Opitz Syndrome Foundation, INC

Cure Blau Syndrome Foundation

Global DARE Foundation

Hyperacusis Research Limited

Hypertrophic Olivary Degeneration Association (HODA)

Kabuki Syndrome Network

Noah's Hope - Hope4Bridget Foundation

Soft Bones Incorporated

STAG1 Gene Foundation

Taylor's Tale Foundation

Team4Travis

The Maddi Foundation

Transient Global Amnesia Project

Warburg Micro Research Foundation

American Multiple Endocrine Neoplasia Support

Lambert Eaton (LEMS) Family Association

Mucolipidosis Type IV (ML4) Foundation

Recurrent Respiratory Papillomatosis Foundation

SHINE-Syndrome Foundaion

SPG Research Foundation

The Cute Syndrome Foundation

The Malan Syndrome Foundation

BARE Inc

Leiomyosarcoma Direct Research Foundation

National Organization for Disorders of the Corpus Callosum (NODCC)

Non- Ketotic Hyperglycinemia (NKH) Crusaders

Project Sebastian

Tango2 Research Foundation

The Alagille Syndrome Alliance

The PBCers Organization

4p- Support Group

Beyond Batten Disease Foundation

Breast Implant Victim Advocates

CACNA1H Alliance

Cauda Equina Foundation, Inc

Coffin Lowry Syndrome Foundation

Cure Mito Foundation

Curing Retinal Blindness Foundation

Endosalpingiosis Foundation, Inc

IMBS Alliance

International Association for Muscle Glycogen Storage Disease (IamGSD)

Kawasaki Disease Foundation

Klippel-Feil Syndrome Freedom

Krishnan Family Foundation

Lowe Syndrome Association

MANDKind Foundation

Marinesco-Sjogren Syndrome Support Group - NORD

Scheuermann's Disease Fund

SMC1A Epilepsy Foundation

Stickler Involved People

Athymia

Autoinflammatory Alliance

Batten Disease Support and Research Association

Cockayne Syndrome Network (Share and Care)

Cornelia de Lange Syndrome Foundation

CRMO Foundation

CURE HSPB8 Myopathy

Cure Mucolipidosis

Hypnic Jerk-Sleep Myoclonus Support Group

International Foundation for Gastrointestinal Disorders

International Sacral Agenesis/Caudal Regression Association (ISACRA)

International Society of Mannosidosis and Related Disorders

Kennedy's Disease Association

Klippel-Feil Syndrome Alliance

Remember the Girls

TBX4Life

Team Telomere

White Sutton Syndrome Foundation

Aniridia North America

BLFS Incorporate

Cure DHDDS

CureARS A NJ Nonprofit Corporation

Cystinosis Research Foundation

DNM1 Families

FOD Support

Kawasaki Disease Foundation Australia

National Ataxia Foundation

Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation

Recurrent Meningitis Association

Riaan Research Initiative

Smith-Kingsmore Syndrome Foundation

The Charlotte & Gwenyth Gray Foundation

Wiedemann-Steiner Syndrome Foundation