Gathering health data to improve understanding of genetic conditions
Observational Study of Advanced Data Analytics in Genetic Conditions
This study is trying to gather health and genetic information from people with genetic conditions and their families to better understand these diseases and find new ways to analyze the data.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1250 (estimated) |
| Ages | 1 Day to 120 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT05657405 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and analyze health and genetic data from individuals with known or suspected genetic conditions, as well as their family members. By utilizing advanced data analytics and computational techniques, researchers hope to uncover insights into the causes and mechanisms of genetic diseases. Participants will undergo various tests over a period of up to four days, with data collected including blood and saliva samples. The ultimate goal is to develop novel methods for analyzing complex datasets related to genetic conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with known or suspected genetic conditions or those with a family member who has such conditions.
Not a fit: Patients without any genetic conditions or family history of genetic conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic tools and treatment strategies for genetic conditions.
How similar studies have performed: Other studies utilizing advanced analytics in genetic research have shown promise, indicating that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: To be eligible to participate in the website-based data collection portion, individuals must be known or suspected to have a genetic condition, or to be the relative of a person with a known or suspected genetic condition, and be willing to consent to and share the requested information with the study team. Adults unable to provide consent must have a Legally Authorized Representative \[LAR\] (who can provide evidence of this status by providing guardianship paperwork, which will be verified) be able to provide consent. To be eligible for the Clinical Center-based portion of this study, an individual must meet all of the following criteria: * Stated willingness to comply with all study procedures and availability for the duration of the study * Male or female, from age 0 to over 100 years of age (the NIH Clinical Center's age-based eligibility criteria will be followed for any individuals who come to the Clinical Center for participation such that individuals \<3 years of age will have a screening form submitted to the Pediatrics consult service, and admissions will follow current Clinical Center limits based on age such that admissions to 1NW generally have to be \> 2 years of age) * Either: * A person who is known or suspected to have a genetic condition based on medical and/or family history * A person who is a family member of a person known or suspected to have a genetic condition (and who is themselves not known or suspected to have a genetic condition) * Ability of subject (or Legally Authorized Representative \[LAR\], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document. To be eligible for the virtual conversation portion of this study, an individual must meet all of the following criteria: * Stated willingness to comply with all study procedures and availability for the duration of the study * Either: * A person over 18 years of age who is known to have a genetic condition based on medical and/or family history * A parent or guardian of a person known to have a genetic condition (and who is themselves not known or suspected to have a genetic condition) * Ability of subject (or Legally Authorized Representative \[LAR\], who can provide evidence of this status, as described above) to understand and the willingness to sign a written informed consent document. EXCLUSION CRITERIA: Individuals who are pregnant will be excluded from the Clinical Center-based portion of the study. There are no other exclusionary criteria except that individuals will be excluded from participation in this study if they are unable or unwilling to participate. The PI/AI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, or for any concerns arising after review of the laboratory and clinical data.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Benjamin D Solomon, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Rebekah L Waikel
- Email: rebekah.waikel@nih.gov
- Phone: (301) 435-6558
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.