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

Intermountain Healthcare

Status

Enrolling

Conditions

Hirschsprung Disease

Wiedemann-Steiner Syndrome

Spinocerebellar Ataxia Type 13

Eosinophilic Gastroenteritis

4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome

Hypophosphatasia

Spinocerebellar Ataxia Type 15/16

Multiple Endocrine Neoplasia Type 1

Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity

Spinocerebellar Ataxia Type 20

Multiple System Atrophy

Idiopathic Hypersomnia Without Long Sleep Time

Spinocerebellar Ataxia Type 34

Spinocerebellar Ataxia Type 2

Perinatal Lethal Hypophosphatasia

Post Vaccination Ataxia

Aniridia - Cerebellar Ataxia - Intellectual Disability

Narcolepsy Without Cataplexy

X-linked Spinocerebellar Ataxia Type 4

Aniridia - Renal Agenesis - Psychomotor Retardation

Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect

Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation

Breast Implant-Associated Anaplastic Large Cell Lymphoma

Lyme Disease

Bohring-Opitz Syndrome

Brachydactyly - Nystagmus - Cerebellar Ataxia

Stickler Syndrome Type 1

Hypersomnolence Disorder

Spinocerebellar Ataxia Type 32

Cerebellar Ataxia With Peripheral Neuropathy

X-linked Cerebellar Ataxia

Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency

Mt-aaRS Disorders

Leiomyosarcoma of the Corpus Uteri

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

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

GAD Ataxia

Posterior Column Ataxia - Retinitis Pigmentosa

Spinocerebellar Ataxia Type 8

Beckwith-Wiedemann Syndrome

Transient Neonatal Myasthenia Gravis

DNM1

Multiple System Atrophy, Cerebellar Type

Spinocerebellar Ataxia Type 3

Childhood-onset Hypophosphatasia

Autosomal Recessive Stickler Syndrome

Spinocerebellar Ataxia Type 5

Cerebellar Ataxia - Hypogonadism

Idiopathic Hypersomnia With Long Sleep Time

Spinocerebellar Ataxia Type 10

Post-Head Injury Ataxia

Idiopathic Hypersomnia

Spinocerebellar Ataxia Type 35

Spinocerebellar Ataxia Type 14

Scleroderma

Transient Global Amnesia

Retinitis Pigmentosa

NARP Syndrome

CRMO

Ataxia With Vitamin E Deficiency

Hereditary Sensory and Autonomic Neuropathy Type Ie

Aniridia - Absent Patella

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

Hypnic Jerking

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

Scheuermann Disease

Fragile X-associated Tremor/Ataxia Syndrome

ZMYND11

Leukodystrophy

Episodic Ataxia Type 6

EIEE31

Episodic Ataxia Type 5

Spinocerebellar Ataxia Type 26

Maternally-inherited Leigh Syndrome

Peters Anomaly - Cataract

Kabuki Syndrome

Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion

Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency

Rare Gastrointestinal Disorders

Multiple System Atrophy, Parkinsonian Type

Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia

Ataxia-telangiectasia

Infantile Hypophosphatasia

Spinocerebellar Ataxia Type 17

Autosomal Dominant Optic Atrophy

Post-Stroke Ataxia

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

Spinocerebellar Ataxia Type 36

Ataxia - Oculomotor Apraxia Type 1

Spinocerebellar Ataxia Type 1

Spinocerebellar Ataxia Type 23

Wolf-Hirschhorn Syndrome

Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome

Non-hereditary Degenerative Ataxia

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

Spinocerebellar Ataxia Type 11

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia

Spinocerebellar Ataxia Type 31

Dilated Cardiomyopathy With Ataxia

Ataxia - Genetic Diagnosis - Unknown

Gliadin/Gluten Ataxia

Unclassified Autosomal Dominant Spinocerebellar Ataxia

Friedreich Ataxia

Autosomal Recessive Ataxia Due to Ubiquinone Deficiency

Silver-Russell Syndrome Due to Imprinting Defect of 11p15

Caudal Regression

Recurrent Viral Meningitis

Hyperacusis (Hyperacousis)

Autosomal Recessive Metabolic Cerebellar Ataxia

Machado-Joseph Disease Type 2

Spinocerebellar Ataxia Type 30

Spinocerebellar Ataxia Type 28

Isolated Aniridia

Machado-Joseph Disease Type 3

Juvenile Nephropathic Cystinosis

Hemophagocytic Lymphohistiocytosis

Mucolipidoses

X-linked Spinocerebellar Ataxia Type 3

Behcet's Disease

MAND-MBD5-Associated Neurodevelopmental Disorder

Odontohypophosphatasia

Spinocerebellar Ataxia Type 6

Infection or Post Infection Ataxia

Sleep Myoclonus

WAGR Syndrome

Achalasia Cardia

Stickler Syndrome Type 2

DHDDS Gene Mutations

Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness

Disorders of Unknown Prevalence

Non-Ketotic Hyperglycinemia

Late-onset Ataxia With Dementia

Addison Disease

Syndromic Aniridia

Vitamin B12 Deficiency Ataxia

Multiple Endocrine Neoplasia Type II

Cornelia De Lange Syndrome

Juvenile Myasthenia Gravis

Toxic Exposure Ataxia

Multiple Endocrine Neoplasia Type 2B

Rare Disorders

Leiomyosarcoma of Small Intestine

VCP Disease

Spinocerebellar Ataxia Type 4

Potocki-Shaffer Syndrome

Exposure to Medications Ataxia

Mitochondrial Diseases

CRB1

Multiple Endocrine Neoplasia, Type IV

Alagille Syndrome

Autosomal Dominant Cerebellar Ataxia Type 2

Autosomal Dominant Cerebellar Ataxia

Autosomal Dominant Spastic Ataxia Type 1

Halitosis

Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency

Multiple Endocrine Neoplasia Type 2

Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)

SPATA5L1 Related Disorder

Nicolaides Baraitser Syndrome

Alcohol Related Ataxia

Autosomal Recessive Spastic Ataxia

Biliary Atresia

Thyroid Antibody Ataxia

Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy

Constitutional Mismatch Repair Deficiency (CMMRD)

Spinocerebellar Ataxia Type 25

Denys-Drash Syndrome

Autosomal Recessive Spastic Ataxia With Leukoencephalopathy

Emanuel Syndrome

Ataxia - Other

Fish Odor Syndrome

Early-onset Ataxia With Dementia

Ataxia-telangiectasia-like Disorder

Spinocerebellar Ataxia Type 16

STAG1 Gene Mutation

Peters Anomaly

Coffin Lowry Syndrome

Beta-Mannosidosis

Spinocerebellar Ataxia Type 21

Autosomal Dominant Cerebellar Ataxia Type 3

Congenital Sucrase-Isomaltase Deficiency

Olivopontocerebellar Atrophy - Deafness

SMC1A Truncated Mutations (Causing Loss of Gene Function)

Anal Fistula

Tracheal Papillomatosis

Primary Biliary Cirrhosis

Cerebellar Ataxia - Ectodermal Dysplasia

Refsum Disease

Warburg Micro Syndrome

Recessive Mitochondrial Ataxia Syndrome

Mucolipidosis Type 4

Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)

Spastic Ataxia With Congenital Miosis

Chronic Recurrent Multifocal Osteomyelitis

Sacral Agenesis

Hypertrophic Olivary Degeneration

Familial Paroxysmal Ataxia

Hereditary Episodic Ataxia

Autosomal Recessive Cerebellar Ataxia

Myasthenia Gravis

Mollaret Meningitis

Autosomal Dominant Cerebellar Ataxia Type 4

Aniridia

Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia

Borjeson-Forssman-Lehman Syndrome

Rare Retinal Disorder

Episodic Ataxia Type 3

Spinocerebellar Ataxia Type 29

Ataxia With Dementia

Prenatal Benign Hypophosphatasia

Nephropathic Cystinosis

Kleine-Levin Syndrome

Autosomal Recessive Congenital Cerebellar Ataxia

Leigh Syndrome

1p36 Deletion Syndrome

Cataract - Ataxia - Deafness

Autosomal Recessive Ataxia Due to PEX10 Deficiency

Rare Inflammatory Bowel Disease

Episodic Ataxia Unknown Type

Spinocerebellar Ataxia - Unknown

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

Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation

Glycogen Storage Disease

Episodic Ataxia With Slurred Speech

Blau Syndrome

Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Kawasaki Disease

Adult-onset Autosomal Recessive Cerebellar Ataxia

X-linked Progressive Cerebellar Ataxia

Spinocerebellar Ataxia Type 22

Acquired Myasthenia Gravis

Episodic Ataxia Type 4

Spinocerebellar Ataxia - Dysmorphism

Cockayne Syndrome

Tango2

Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy

Myoclonus - Cerebellar Ataxia - Deafness

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

KCNMA1-Channelopathy

X-linked Non Progressive Cerebellar Ataxia

Spasticity-ataxia-gait Anomalies Syndrome

Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus

Lambert Eaton (LEMS)

Isolated Congenital Asplenia

HSPB8 Myopathy

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

Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria

Recurrent Respiratory Papillomatosis

Autosomal Dominant Spastic Ataxia

Epilepsy and/or Ataxia With Myoclonus as Major Feature

Adult Hypophosphatasia

Aniridia-intellectual Disability Syndrome

Multiple Endocrine Neoplasia, Type 3

Cerebellar Ataxia, Cayman Type

Arginase 1 Deficiency

4p16.3 Microduplication Syndrome

Rare Hereditary Ataxia

Short Bowel Syndrome

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

SPATA5 Disorder

Autosomal Recessive Ataxia, Beauce Type

Spinocerebellar Ataxia Type 19/22

Sacral Agenesis Syndrome

Alstrom Syndrome

Cauda Equina Syndrome

Multiple Endocrine Neoplasia

Narcolepsy-cataplexy

Atypical HUS

Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly

Spastic Ataxia

Spinocerebellar Ataxia Type 7

Axenfeld-Rieger Syndrome

Frasier Syndrome

Spastic Ataxia - Corneal Dystrophy

Idiopathic Gastroparesis

Leber Congenital Amaurosis

Jansen Type Metaphyseal Chondrodysplasia

Rare Ataxia

Intestinal Pseudo-Obstruction

Myhre Syndrome

Kennedy Disease

White Sutton Syndrome

Spinocerebellar Ataxia With Epilepsy

Spinocerebellar Ataxia Type 18

Pitt Hopkins Syndrome

Cystinosis

Malan Syndrome

Leiomyosarcoma of the Cervix Uteri

Atypical Hemolytic Uremic Syndrome

Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract

Episodic Ataxia Type 7

Multiple Endocrine Neoplasia (MEN) Syndrome

Silver-Russell Syndrome Due to 11p15 Microduplication

X-linked Intellectual Disability - Ataxia - Apraxia

Undiagnosed Disorders

Achalasia-Addisonian Syndrome

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

Lowe Syndrome

Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity

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

Mitochondrial Aminoacyl-tRNA Synthetases

Multiple Endocrine Neoplasia Type 2A

Stickler Syndrome

Spinocerebellar Ataxia Type 12

Early-onset Spastic Ataxia-neuropathy Syndrome

Ataxia-telangiectasia Variant

Spinocerebellar Ataxia Type 37

Episodic Ataxia Type 1

Early-onset Cerebellar Ataxia With Retained Tendon Reflexes

Isolated Klippel-Feil Syndrome

Achalasia Icrocephaly Syndrome

Autosomal Dominant Cerebellar Ataxia Type 1

Machado-Joseph Disease Type 1

Spinocerebellar Ataxia Type 27

Laryngeal Papillomatosis

TBX4 Syndrome

Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity

Spinocerebellar Ataxia With Oculomotor Anomaly

Leiomyosarcoma

Autosomal Recessive Syndromic Cerebellar Ataxia

Brain Tumor Ataxia

Sporadic Adult-onset Ataxia of Unknown Etiology

Williams Syndrome

Spinal Bulbar Muscular Atrophy

Acquired Ataxia

Study type

Observational

Funder types

Other

Identifiers

NCT01793168

Cure Batten Disease (Registry Identifier)

CdLS Foundation (Registry Identifier)

BARE Inc. (Registry Identifier)

Team Telomere (Registry Identifier)

BIVA (Registry Identifier)

Hyperacusis Research Limited (Registry Identifier)

All Things Kabuki (Registry Identifier)

ISMRD - Beta Mannosidosis (Registry Identifier)

Alstrom United Kingdomg (Registry Identifier)

Stickler Involved People (Registry Identifier)

NCBRS (Registry Identifier)

Taylor's Tale Foundation (Registry Identifier)

Tango2 Research Foundation (Registry Identifier)

National Ataxia Foundation (Registry Identifier)

Remember the Girls (Registry Identifier)

The Cute Syndrome Foundation (Registry Identifier)

Pitt Hopkins (Registry Identifier)

Noah's Hope - Hope4Bridget (Registry Identifier)

Hypnic Jerk/Sleep Myoclonus (Registry Identifier)

MANDKind Foundation (Registry Identifier)

ARG1D Foundation (Registry Identifier)

Team4Travis (Registry Identifier)

Myhre Syndrome Foundation (Registry Identifier)

STAG1 Gene Foundation (Registry Identifier)

Alagille Syndrome Association (Registry Identifier)

Zmynd11 Gene Disorder (Registry Identifier)

ABDA (Registry Identifier)

Cure Mito Foundation (Registry Identifier)

TGA Project (Registry Identifier)

Cystinosis Research Foundation (Registry Identifier)

Kabuki Syndrome Network (Registry Identifier)

PROS Foundation (HLH) (Registry Identifier)

MSS Support Group (Registry Identifier)

aHUS (Registry Identifier)

SPG11 and SPG15 (Registry Identifier)

Klippel-Feil Syndrome Alliance (Registry Identifier)

ISACRA (Registry Identifier)

The Malan Syndrome Foundation (Registry Identifier)

CRB1 Foundation (Registry Identifier)

CRMO (Registry Identifier)

IMBS Alliance (Registry Identifier)

Hypersomnia Foundation (Registry Identifier)

Lambert Eaton (LEMS) Family (Registry Identifier)

Riaan Research Initiative (Registry Identifier)

Cauda Equina Foundation (Registry Identifier)

BDSRA (Registry Identifier)

MSUD FSG (Registry Identifier)

Klippel-Feil Syndrome Freedom (Registry Identifier)

Cure Blau Syndrome Foundation (Registry Identifier)

1p36 DSA (Registry Identifier)

Jansen Foundation (Registry Identifier)

HODA (Registry Identifier)

Leiomyosarcoma Direct Research (Registry Identifier)

Aniridia North America (Registry Identifier)

WSS Foundation (Registry Identifier)

Kennedy's Disease Assocation (Registry Identifier)

Scheuermann's Disease Fund (Registry Identifier)

SKS Foundation (Registry Identifier)

Kawasaki Disease Foundation (Registry Identifier)

Warburg Micro Research (Registry Identifier)

TBX4Life (Registry Identifier)

Share and Care Network (Registry Identifier)

Coffin Lowry Syndrome (Registry Identifier)

Kleine-Levin Syndrome (Registry Identifier)

Project Sebastian (Registry Identifier)

HSAN1E Society (Registry Identifier)

IamGSD (Registry Identifier)

ML4 Foundation (Registry Identifier)

CACNA1H Alliance (Registry Identifier)

IWSA (Registry Identifier)

PBCers Organization (Registry Identifier)

Krishnan Family Foundation (Registry Identifier)

Cure Mucolipidosis (Registry Identifier)

KCIAF (Registry Identifier)

BLFS Incorporate (Registry Identifier)

RRPF (Registry Identifier)

Endosalpingiosis Foundation (Registry Identifier)

DNM1 Families (Registry Identifier)

SPG15 Research Foundation (Registry Identifier)

4p- Support Group (Registry Identifier)

Global DARE Foundation (Registry Identifier)

03-10-014

Non-Ketotic Hyperglycinemia (Registry Identifier)

CURE HSPB8 Myopathy (Registry Identifier)

Soft Bones (Registry Identifier)

Lowe Syndrome Association (Registry Identifier)

SPATA Foundation (Registry Identifier)

PWN4PWN (Registry Identifier)

IFFGD (Registry Identifier)

SMC1A Epilepsy (Registry Identifier)

Cure VCP Disease, Inc. (Registry Identifier)

American MEN Support (Registry Identifier)

Cure DHDDS (Registry Identifier)

Corpus Callosum Disorders (Registry Identifier)

SHINE Syndrome Foundation (Registry Identifier)

Athymia (Registry Identifier)

Details and patient eligibility

About

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Full description

CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS:

Contact information: Name, Mailing Address, Phone Number, Email Address Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity Health information: Family History, Information related to Diagnosis

De-identified information in CoRDS will be made available to researchers, if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher's institution and (2) a panel of experts.

A subset of de-identified information collected from each profile may be shared with certain other databases. This is done in order to help improve understanding of rare diseases, to avoid the duplication of efforts and to collaborate with existing research efforts with organizations dedicated to rare diseases.

Participants may elect to have their information shared with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for Research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.

The CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient Advocacy Groups (PAGs) for access to information in CoRDS.

If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS.

CoRDS contacts participants annually to confirm continued interest in participation in CoRDS, and to request that participants update the information they have provided.

Enrollment

20,000 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria