Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford (CoRDS)
The purpose of this registry is to create a central resource that connects scientists conducting rare disease research studies with affected individuals interested in participating in research.
Diseases with patient advocacy groups that are represented in the CoRDS Registry:
16p11.2p12.2 microduplication syndrome 19p13.12 microdeletion syndrome|19p13.13 microdeletion syndrome Acquired ataxia Acquired ataxia|Multiple system atrophy Adult-onset autosomal recessive cerebellar ataxia Ataxia neuropathy spectrum Autoimmune thrombocytopenia|Undiagnosed Autosomal dominant cerebellar ataxia type 3 Autosomal dominant cerebellar ataxia type 4|Autosomal dominant spastic paraplegia type 10|Autosomal dominant non-syndromic intellectual disability Autosomal dominant hyper-IgE syndrome Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis|Isolated Klippel-Feil syndrome (Congenital cervical vertebral fusion) Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly Autosomal recessive degenerative and progressive cerebellar ataxia Axenfeld-Rieger syndrome Bardet-Biedl syndrome Behçet disease Behçet disease|Undiagnosed Chronic inflammatory demyelinating polyneuropathy Classical homocystinuria CLN2 disease Coffin-Lowry syndrome Common variable immunodeficiency Congenital contractural arachnodactyly Congenital tracheomalacia|Ataxia - Other Cornelia de Lange syndrome (Brachmann-de Lange syndrome) Cornelia de Lange syndrome (Brachmann-de Lange syndrome)|Undiagnosed Cryoglobulinemic vasculitis Dravet syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome, hypermobility type Emanuel syndrome (Supernumerary der(22) syndrome) Eosinophilic fasciitis Episodic Ataxia Unknown type Erythropoietic protoporphyria Fragile X syndrome|Undiagnosed Friedreich ataxia Hemimegalencephaly Hereditary chronic pancreatitis Hereditary episodic ataxia|Familial or sporadic hemiplegic migraine Hirschsprung disease Hypophosphatasia Hypoplasminogenemia Idiopathic facial palsy Idiopathic hypersomnia|Idiopathic hypersomnia with long sleep time Isolated Klippel-Feil syndrome (Congenital cervical vertebral fusion)|Ehlers-Danlos syndrome, hypermobility type|Combined cervical dystonia Jacobsen syndrome Juvenile neuronal ceroid lipofuscinosis Kabuki syndrome Late infantile neuronal ceroid lipofuscinosis Leigh syndrome Ligneous conjunctivitis Listeriosis|Sensory ataxic neuropathy - dysarthria - ophthalmoparesis Mal de débarquement Marinesco Sjogren Syndrome(Marinesco-Sjögren syndrome)|Undiagnosed Melorheostosis with osteopoikilosis Mixed connective tissue disease Mixed connective tissue disease|Cutaneous leukocytoclastic angiitis|Hypocomplementemic urticarial vasculitis Moderate and severe traumatic brain injury Moebius syndrome Mosaic trisomy 22 Mowat-Wilson syndrome Mucolipidosis type 4 Mucopolysaccharidosis type 6 Muir-Torre syndrome Multiple endocrine neoplasia type 1 Multiple epiphyseal dysplasia Multiple system atrophy, parkinsonian type Myasthenia gravis|Behçet disease Narcolepsy without cataplexy Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion Neurofibromatosis type 1|Precocious puberty|Congenital pseudoarthrosis of the fibula|Rare genetic hypothalamic or pituitary disease|Optic pathway glioma|Tumor of cranial and spinal nerves Neurofibromatosis type 2 Noonan syndrome Oculocerebrorenal syndrome (Lowe syndrome) Osteogenesis imperfecta Osteogenesis imperfecta type 1 Osteopetrosis Phenylketonuria PMM2-CDG Potocki-Shaffer syndrome (11p11.2 deletion) Primary lateral sclerosis Rare ataxia Rare endometriosis Rare hereditary ataxia Recessive mitochondrial ataxia syndrome Schizencephaly Simple cryoglobulinemia Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Spinocerebellar ataxia - Unknown|Ataxia - Other Spinocerebellar ataxia type 1|Spinocerebellar ataxia - Unknown Spinocerebellar ataxia type 1|Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 2|Ataxia - Other Spinocerebellar ataxia type 3|Machado-Joseph disease type 3 Spinocerebellar ataxia type 4|Spinocerebellar ataxia - Unknown Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 7|Cone rod dystrophy|Ataxia - Other Spinocerebellar ataxia type 8 Spinocerebellar ataxia with axonal neuropathy type 2|Spinocerebellar ataxia with oculomotor anomaly|Spinocerebellar ataxia type 2 Stickler syndrome (Hereditary progressive arthroophthalmopathy) Tay-Sachs disease Typical urticaria pigmentosa Unclassified autosomal dominant spinocerebellar ataxia|Spinocerebellar ataxia - Unknown Undiagnosed Very long chain acyl-CoA dehydrogenase deficiency WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability) Waldenström macroglobulinemia Wildervanck syndrome Wolf-Hirschhorn syndrome (4p- syndrome) Zellweger syndrome
Disorders of Unknown Prevalence
|Study Type:||Observational [Patient Registry]|
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Target Follow-Up Duration:||100 Years|
|Official Title:||Coordination of Rare Diseases at Sanford|
- 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 ] [ Designated as safety issue: No ]
Biospecimen Retention: None Retained
Biospecimen collection capability anticipated in 2014.
|Study Start Date:||July 2010|
|Estimated Primary Completion Date:||December 2100 (Final data collection date for primary outcome measure)|
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 led by Dr. David A. Pearce.
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 and 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. Dr. David A. Pearce and 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01793168
|Contact: Catie Olsonfirstname.lastname@example.org|
|United States, South Dakota|
|Sioux Falls, South Dakota, United States, 57104|
|Principal Investigator: David A Pearce, PhD|
|Principal Investigator:||David A Pearce, PhD||Sanford Health|