Collecting blood and tissue samples to understand rare diseases
Human Biospecimen Procurement and Analysis to Support Translational Research to Identify Genetic Etiology and Disease Mechanism(s) in Rare Genetic Vascular/Cardiovascular Diseases
National Institutes of Health Clinical Center (CC) · NCT02543996
This study is collecting blood and tissue samples from people with rare or undiagnosed diseases to see if they can find out what causes these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 10000 (estimated) |
| Ages | 1 Month to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT02543996 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect blood and tissue samples from individuals with undiagnosed diseases and cardiovascular conditions to investigate the genetic causes and mechanisms of these diseases. Participants of all ages can provide samples, which may include blood, saliva, skin biopsies, and surgical waste tissue. The samples will be analyzed to identify genetic variants and their implications for disease. The study is conducted at the NIH Clinical Center, where samples can be collected on-site or sent from participants' doctors.
Who should consider this trial
Good fit: Ideal candidates include individuals of all ages with undiagnosed diseases or cardiovascular conditions, as well as their affected or unaffected relatives.
Not a fit: Patients who are healthy volunteers unable to provide informed consent or cognitively impaired individuals not related to affected subjects may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of rare genetic diseases and improved diagnostic and treatment options for affected patients.
How similar studies have performed: Other studies have successfully utilized similar biospecimen collection approaches to uncover genetic factors in rare diseases, indicating a promising avenue for this research.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA (SUBJECTS MUST MEET ONE OF THE FOLLOWING): * Age: older than 1 month of age * Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study. * Unaffected related pregnant women (including spouses/partners) for cord blood and tissue collection (surgical waste) only at the time of delivery. * Cognitively impaired individuals that are affected * Cognitively impaired individuals that are related to an affected subject. * Subjects willing to provide informed consent. EXCLUSION CRITERIA: * Healthy volunteers unable to give informed consent * Cognitively impaired individuals who are not affected * Cognitively impaired individuals who are not related to affected subjects.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Manfred Boehm, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: William R Whalen, C.R.N.P.
- Email: william.whalen@nih.gov
- Phone: (301) 402-9841
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Undiagnosed Diseases, Cardiovascular Disease, Sample Collection, Laboratory Research Specimens, Biospecimen Procurement, Rare Diseases, Natural History