Observational Study of Advanced Data Analytics in Genetic Conditions

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Dec 19, 2022

Keywords

ClinConnect Summary

This clinical trial is looking into how we can better understand genetic conditions, which are diseases caused by changes in our genes. Researchers want to collect health and genetic information from individuals who have these conditions or have family members with them. By gathering this data, they hope to create new tools that will help them analyze and understand genetic information more effectively.

Anyone of any age who has a known or suspected genetic condition, or is related to someone with such a condition, may be eligible to participate in this study. If you join, you can expect to visit the clinic for up to four days, where various tests will be done. These may include providing blood or saliva samples, undergoing imaging scans, and possibly having heart tests. You might also have photographs or recordings made to document features related to the genetic condition. For those who prefer, some aspects of the study can be done through telehealth. Your participation could help advance our understanding of genetic diseases and improve future treatments.

Gender

ALL

Eligibility 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 inpatient admissions will not include pediatric patients \<3 years old or \< 12 kg; outpatient visits for individuals \<3 years old or \<12 kg will only proceed with permission of the pediatric assessment team)
• * 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.