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Search / Trial NCT02543996

Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Sep 5, 2015

Trial Information

Current as of June 26, 2025

Recruiting

Keywords

Sample Collection Laboratory Research Specimens Biospecimen Procurement Rare Diseases Natural History

ClinConnect Summary

This clinical trial is focused on understanding the causes of undiagnosed diseases and cardiovascular disease by collecting blood and tissue samples. Researchers believe that rare genetic changes might lead to these health issues, and by studying these samples, they hope to uncover important information that could help in diagnosis and treatment. The trial is open to individuals of all ages, including children and pregnant women, particularly if they have been referred due to a known or suspected health problem.

Participants can expect to provide samples that may include blood drawn from a vein, cheek cells collected with a cotton swab, saliva, small skin samples taken with a special needle, or even tissue from surgery if they have an operation. For pregnant women, there’s also the option to donate a small piece of the umbilical cord or cord blood after childbirth. It’s important to note that participants will need to give their consent to take part in the study, and while healthy volunteers cannot participate without the ability to consent, those who are cognitively impaired may participate if they are affected by a disease or are related to someone who is. This trial aims to gather valuable information that can ultimately lead to better understanding and treatment of complex diseases.

Gender

ALL

Eligibility 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.

About National Heart, Lung, And Blood Institute (Nhlbi)

The National Heart, Lung, and Blood Institute (NHLBI) is a leading component of the National Institutes of Health (NIH), dedicated to advancing research and clinical trials focused on cardiovascular, pulmonary, and hematologic diseases. With a mission to improve public health through innovative research, the NHLBI supports a wide range of studies aimed at understanding, preventing, and treating heart and lung conditions. By collaborating with academic institutions, healthcare providers, and patient communities, the NHLBI strives to translate scientific discoveries into effective clinical practices, ultimately enhancing the quality of life for individuals affected by these critical health issues.

Locations

Bethesda, Maryland, United States

Patients applied

HT

1 patients applied

Trial Officials

Manfred Boehm, M.D.

Principal Investigator

National Heart, Lung, and Blood Institute (NHLBI)

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

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