ClinicalTrials.gov record NCT01793168

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Coordination of Rare Diseases at Sanford

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationAustralia, United States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

CoRDS is a long-term observational registry that collects contact, sociodemographic, and health information from people with rare or undiagnosed conditions and from unaffected carriers. De-identified, coded records are stored and may be shared with researchers who have required approvals; some de-identified subsets may also be shared with other databases. Participants are contacted yearly to confirm participation and update information, and may opt to share certain information with partnered patient advocacy groups. Enrollment in the registry is free for patients.

What it is studying. The registry aims to build a centralized, de-identified database of contact, demographic, and health information to enable and accelerate research into many rare and undiagnosed conditions and to support collaboration and data sharing among researchers.

What the researchers hope to learn. Scientific goals: accelerate research into rare disorders by connecting interested individuals with researchers; improve understanding of rare and undiagnosed conditions; reduce duplication of effort by sharing de-identified data and collaborating with other databases and patient organizations.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

You complete a questionnaire and provide contact, sociodemographic, and health information (examples given include family history and information related to diagnosis). Your information is entered into CoRDS and linked to a coded identifier; de-identified data may be shared with researchers who have Institutional Review Board (IRB) and expert-panel approval, and a subset of de-identified data may be shared with certain other databases. You may choose to allow your information to be shared with participating patient advocacy groups. CoRDS contacts participants annually to confirm continued interest and request updates; if a parent or legal representative consents for a minor, CoRDS will contact the participant at age 18 to obtain their own consent and may withdraw them if consent is not obtained. No invasive or highly burdensome procedures (for example, bone-marrow biopsy or lumbar puncture) are listed in the registry record, and enrollment is free for patients.

How the study is structured. This is a prospective, case-only observational registry. Participants provide information via a questionnaire (contact details, sociodemographic data, and health/diagnosis-related information); each profile is linked to a unique coded identifier and stored de-identified. De-identified data can be made available to researchers after institutional review board (IRB) and expert-panel approval, and some de-identified data subsets may be shared with other databases. CoRDS contacts participants annually to confirm continued interest and request updates; if a minor was enrolled by a parent or legal representative, CoRDS will seek the participant's consent at age 18.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Australia, United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Kabuki syndrome

This trial is also listed on this site under alpha-mannosidosis, Alström syndrome, atypical hemolytic uremic syndrome, chronic recurrent multifocal osteomyelitis, Friedreich ataxia, hemophagocytic lymphohistiocytosis, hypophosphatasia, metachromatic leukodystrophy, multiple system atrophy, Pitt-Hopkins syndrome and spinocerebellar ataxia.

Clinical trials2 trials listed for Kabuki syndromeEvery trial the registry lists for Kabuki syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Kabuki syndrome researchLatest monthly update: September 2026. Includes: Heart surgery outcomes. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
July 2010
Primary completion
December 2100 (estimated)
Study completion
December 2100 (estimated)
Target enrollment
20000 participants (estimated)
Last updated on registry
May 29, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Sanford Health
Collaborators
  • National Ataxia Foundation
  • International WAGR Syndrome Association
  • 4p- Support Group
  • ML4 Foundation
  • Cornelia de Lange Syndrome Foundation
  • Stickler Involved People
  • Kawasaki Disease Foundation
  • Klippel-Feil Syndrome Alliance
  • Klippel-Feil Syndrome Freedom
  • Hyperacusis Research Limited
  • Hypersomnia Foundation
  • Kabuki Syndrome Network
  • Kleine-Levin Syndrome Foundation
  • Leiomyosarcoma Direct Research Foundation
  • Marinesco-Sjogren Syndrome Support Group - NORD
  • Mucolipidosis Type IV (ML4) Foundation
  • People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
  • Soft Bones Incorporated
  • American Multiple Endocrine Neoplasia Support
  • Atypical Hemolytic Uremic Syndrome Foundation
  • All Things Kabuki
  • Wiedemann-Steiner Syndrome Foundation
  • Breast Implant Victim Advocates
  • PROS Foundation
  • American Behcet's Disease Association
  • Alstrom United Kingdom
  • Athymia
  • Curing Retinal Blindness Foundation
  • HSAN1E Society
  • 1p36 Deletion Support and Awareness
  • The Alagille Syndrome Alliance
  • Autoinflammatory Alliance
  • Beyond Batten Disease Foundation
  • Bohring-Opitz Syndrome Foundation, INC
  • Cockayne Syndrome Network (Share and Care)
  • CRMO Foundation
  • Cure VCP Disease,INC
  • FOD Support
  • Cystinosis Research Foundation
  • Global DARE Foundation
  • Hypnic Jerk-Sleep Myoclonus Support Group
  • Jansen's Foundation
  • KCNMA1 Channelopathy International Advocacy Foundation
  • Kawasaki Disease Foundation Australia
  • Life with LEMS Foundation
  • Lowe Syndrome Association
  • The Malan Syndrome Foundation
  • Maple Syrup Urine Disease Family Support Group
  • International Association for Muscle Glycogen Storage Disease (IamGSD)
  • Myhre Syndrome Foundation
  • DNM1 Families
  • Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation
  • The PBCers Organization
  • Pitt Hopkins Research Foundation
  • Recurrent Meningitis Association
  • Recurrent Respiratory Papillomatosis Foundation
  • Remember the Girls
  • Smith-Kingsmore Syndrome Foundation
  • SPG Research Foundation
  • Team Telomere
  • Transient Global Amnesia Project
  • The Charlotte & Gwenyth Gray Foundation
  • The Cute Syndrome Foundation
  • The Maddi Foundation
  • White Sutton Syndrome Foundation
  • Zmynd11 Gene Disorder
  • Cauda Equina Foundation, Inc
  • Tango2 Research Foundation
  • Noah's Hope - Hope4Bridget Foundation
  • Project Sebastian
  • SMC1A Epilepsy Foundation
  • International Foundation for Gastrointestinal Disorders
  • Endosalpingiosis Foundation, Inc
  • International Sacral Agenesis/Caudal Regression Association (ISACRA)
  • Scheuermann's Disease Fund
  • Batten Disease Support and Research Association
  • Kennedy's Disease Association
  • Cure Mito Foundation
  • Warburg Micro Research Foundation
  • Cure Mucolipidosis
  • Riaan Research Initiative
  • CureARS A NJ Nonprofit Corporation
  • CACNA1H Alliance
  • IMBS Alliance
  • SHINE-Syndrome Foundaion
  • Non- Ketotic Hyperglycinemia (NKH) Crusaders
  • Hypertrophic Olivary Degeneration Association (HODA)
  • National Organization for Disorders of the Corpus Callosum (NODCC)
  • Team4Travis
  • Taylor's Tale Foundation
  • Lambert Eaton (LEMS) Family Association
  • BARE Inc
  • STAG1 Gene Foundation
  • Coffin Lowry Syndrome Foundation
  • BLFS Incorporate
  • Aniridia North America
  • Cure Blau Syndrome Foundation
  • ARG1D Foundation
  • CURE HSPB8 Myopathy
  • International Society of Mannosidosis and Related Disorders
  • TBX4Life
  • Cure DHDDS
  • MANDKind Foundation
  • Krishnan Family Foundation
  • SPATA Foundation
  • Acrodysostosis Support and Research
  • ACTA2 Alliance
  • ANA-Aniridia North America
  • CRELD1 Warriors
  • GNB1 Advocacy Group
  • Hope for PDCD Foundation
  • ISMRD - Beta Mannosidosis
  • KBG Syndrome Association
  • The LCC Foundation
  • MLD Foundation
  • MSA United Research Consortium
  • Moyamoya Foundation
  • OPMD Association
  • SKDEAS Foundation
  • The Foundation for Casey's Cure
  • TUBB3 Foundation
  • WWOX Foundation

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (2)

Terms used on this page · explanations by MedicalUpdates.ai

patient registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
LAR
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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