Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Nov 3, 1999

Keywords

ClinConnect Summary

This clinical trial is focused on Hermansky-Pudlak Syndrome (HPS), a genetic condition that can lead to issues like lighter skin and hair color, bleeding problems, and complications with organs like the lungs and heart. The main goal of the study is to better understand the medical challenges faced by people with HPS, as well as to investigate the underlying causes of these issues. Researchers will evaluate patients from all backgrounds and collect samples like blood and urine for further analysis. They will also perform genetic tests to look for specific changes in genes that can cause HPS.

Anyone aged 1 to 80 years who has been diagnosed with HPS, or family members of those affected, may be eligible to participate. Participants can expect to undergo health evaluations, provide samples, and complete questionnaires about symptoms. It's important to note that pregnant women and those who cannot give consent will not be able to take part in the study. This research is crucial because, currently, there is no known treatment for HPS, and understanding the disease better could help improve care for those affected.

Gender

ALL

Eligibility criteria

• • INCLUSION CRITERIA
• • Persons with HPS or family members who are their caregivers aged 1-80 years are eligible to enroll in this protocol. The diagnosis of HPS is based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy or the identification of pathogenic variants in HPS genes by genetic testing. Some persons who have not been diagnosed with HPS may be admitted to the protocol based upon the presence of albinism and a platelet storage pool deficiency.
• • Subjects participating only in the HPS Symptom Questionnaire will be at least 18 years of age.
• • EXCLUSION CRITERIA
• • Pregnant women and adults who are unable to provide consent are excluded.

Trial Officials