Clinical trial NCT01793168: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Official title: Coordination of Rare Diseases at Sanford
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: 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 Syndrome(Marinesco-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
4p16.3 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 19/22
Spinocerebellar Ataxia Type 18
Spinocerebellar Ataxia Type 17
Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 15/16
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 and/or 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 and/or 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
Gliadin/Gluten Ataxia
Friedreich Ataxia
Fragile X-associated Tremor/Ataxia 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 and/or 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
Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)
Hemophagocytic Lymphohistiocytosis
Behcet&#39;s 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
Acrodysostosis
Multi-systematic Smooth Muscle Dysfunction Syndrome
CRELD1 (Cysteine Rich With EGF Like Domains 1)
GNB1 Syndrome
Pyruvate Dehydrogenase Complex Deficiency Disease
Beta Mannosidosis
Kbg Syndrome
Labrune Syndrome
Metachromatic Leukodystrophy (MLD)
Moyamoya Disease
OPHN1 Syndrome
Oculopharyngeal Muscular Dystrophy (OPMD)
TUBB3 Mutation
WOREE (WWOX-related Epileptic Encephalopathy
SCAR12
Skraban-Deardorff Syndrome
Hereditary Myopathy With Early Respiratory Failure
Keywords: Rare Diseases
Neglected Diseases
Orphan Diseases
Rare Disease Research
Registries
WAGR Syndrome
Ataxia
Cornelia de Lange Syndrome
Stickler Syndrome
Ataxia Telangiectasia
Kawasaki Disease
Batten Disease
Mucolipidosis IV
Klippel-Feil Syndrome
Multiple Endocrine Neoplasia
Atypical Hemolytic Uremic Syndrome
Undiagnosed
Uncommon Disease
Kabuki Syndrome
Hypersomnia
Hyperacusis
Kleine-Levin Syndrome
Marinesco-Sjogren Syndrome
Leiomyosarcoma
4p-/Wolf-Hirschhorn Syndrome
Hypophosphatasia
Narcolepsy
Wiedermann-Steiner Syndrome
Breast Implant-Associated Anaplastic Large Cell Lymphoma
Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA)
Hemophagocytic Lymphohistiocytosis (HLH)
Behcet&#39;s Disease
Alagille Syndrome
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)
Lowe Syndrome
Pitt Hopkins Syndrome
1p36 deletion syndrome
Jansen metaphyseal chondrodysplasia
Cockayne Syndrome
Chronic recurrent multifocal osteomyelitis (CRMO)
Malan syndrome
Hereditary Sensory and Autonomic Neuropathy
Cystinosis
Juvenile nephropathic cystinosis
Nephropathic infantile cystinosis
Ocular cystinosis
Kennedy disease
Spinal Bulbar Muscular Atrophy (SBMA)
SMC1A Truncated Mutations (causing loss of gene function)
Leigh syndrome
Warburg Micro Syndrome
Mucolipidosis
Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)
Shine Syndrome
Hypertrophic Olivary Degeneration
Non-Ketotic Hyperglycinemia
Intestinal Bromhidrosis Syndrome
Fish odor syndrome
Autosomal recessive extra oral halitosis
CACNA1H mutation
Dimethylglycine dehydrogenase deficiency
Lead sponsor: Sanford Health
Sponsor class: OTHER
Collaborators: name: National Ataxia Foundation
name: International WAGR Syndrome Association
name: 4p- Support Group
name: ML4 Foundation
name: Cornelia de Lange Syndrome Foundation
name: Stickler Involved People
name: Kawasaki Disease Foundation
name: Klippel-Feil Syndrome Alliance
name: Klippel-Feil Syndrome Freedom
name: Hyperacusis Research Limited
name: Hypersomnia Foundation
name: Kabuki Syndrome Network
name: Kleine-Levin Syndrome Foundation
name: Leiomyosarcoma Direct Research Foundation
name: Marinesco-Sjogren Syndrome Support Group - NORD
name: Mucolipidosis Type IV (ML4) Foundation
name: People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
name: Soft Bones Incorporated
name: American Multiple Endocrine Neoplasia Support
name: Atypical Hemolytic Uremic Syndrome Foundation
name: All Things Kabuki
name: Wiedemann-Steiner Syndrome Foundation
name: Breast Implant Victim Advocates
name: PROS Foundation
name: American Behcet's Disease Association
name: Alstrom United Kingdom
name: Athymia
name: Curing Retinal Blindness Foundation
name: HSAN1E Society
name: 1p36 Deletion Support and Awareness
name: The Alagille Syndrome Alliance
name: Autoinflammatory Alliance
name: Beyond Batten Disease Foundation
name: Bohring-Opitz Syndrome Foundation, INC
name: Cockayne Syndrome Network (Share and Care)
name: CRMO Foundation
name: Cure VCP Disease,INC
name: FOD Support
name: Cystinosis Research Foundation
name: Global DARE Foundation
name: Hypnic Jerk-Sleep Myoclonus Support Group
name: Jansen's Foundation
name: KCNMA1 Channelopathy International Advocacy Foundation
name: Kawasaki Disease Foundation Australia
name: Life with LEMS Foundation
name: Lowe Syndrome Association
name: The Malan Syndrome Foundation
name: Maple Syrup Urine Disease Family Support Group
name: International Association for Muscle Glycogen Storage Disease (IamGSD)
name: Myhre Syndrome Foundation
name: DNM1 Families
name: Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation
name: The PBCers Organization
name: Pitt Hopkins Research Foundation
name: Recurrent Meningitis Association
name: Recurrent Respiratory Papillomatosis Foundation
name: Remember the Girls
name: Smith-Kingsmore Syndrome Foundation
name: SPG Research Foundation
name: Team Telomere
name: Transient Global Amnesia Project
name: The Charlotte & Gwenyth Gray Foundation
name: The Cute Syndrome Foundation
name: The Maddi Foundation
name: White Sutton Syndrome Foundation
name: Zmynd11 Gene Disorder
name: Cauda Equina Foundation, Inc
name: Tango2 Research Foundation
name: Noah's Hope - Hope4Bridget Foundation
name: Project Sebastian
name: SMC1A Epilepsy Foundation
name: International Foundation for Gastrointestinal Disorders
name: Endosalpingiosis Foundation, Inc
name: International Sacral Agenesis/Caudal Regression Association (ISACRA)
name: Scheuermann's Disease Fund
name: Batten Disease Support and Research Association
name: Kennedy's Disease Association
name: Cure Mito Foundation
name: Warburg Micro Research Foundation
name: Cure Mucolipidosis
name: Riaan Research Initiative
name: CureARS A NJ Nonprofit Corporation
name: CACNA1H Alliance
name: IMBS Alliance
name: SHINE-Syndrome Foundaion
name: Non- Ketotic Hyperglycinemia (NKH) Crusaders
name: Hypertrophic Olivary Degeneration Association (HODA)
name: National Organization for Disorders of the Corpus Callosum (NODCC)
name: Team4Travis
name: Taylor's Tale Foundation
name: Lambert Eaton (LEMS) Family Association
name: BARE Inc
name: STAG1 Gene Foundation
name: Coffin Lowry Syndrome Foundation
name: BLFS Incorporate
name: Aniridia North America
name: Cure Blau Syndrome Foundation
name: ARG1D Foundation
name: CURE HSPB8 Myopathy
name: International Society of Mannosidosis and Related Disorders
name: TBX4Life
name: Cure DHDDS
name: MANDKind Foundation
name: Krishnan Family Foundation
name: SPATA Foundation
name: Acrodysostosis Support and Research
name: ACTA2 Alliance
name: ANA-Aniridia North America
name: CRELD1 Warriors
name: GNB1 Advocacy Group
name: Hope for PDCD Foundation
name: ISMRD - Beta Mannosidosis
name: KBG Syndrome Association
name: The LCC Foundation
name: MLD Foundation
name: MSA United Research Consortium
name: Moyamoya Foundation
name: OPMD Association
name: SKDEAS Foundation
name: The Foundation for Casey's Cure
name: TUBB3 Foundation
name: WWOX Foundation
First posted: 2013-02-15
Enrollment: 20000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Unaffected carriers, undiagnosed and those with a rare disease or rare condition.

Brief summary: 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.

Detailed 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.

Eligibility 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

Primary outcomes:
measure: 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.
timeFrame: 100 years
Secondary outcomes:
Other outcomes:
Locations:
city: Sioux Falls
country: United States
facility: Sanford Health
state: South Dakota
city: Sydney
country: Australia
facility: Online Patient Enrollment System
Study officials:
References: