Investigating Hermansky-Pudlak Syndrome
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
This study is trying to learn more about Hermansky-Pudlak Syndrome by looking at patients and their families to see how the condition affects them and what causes it.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 1 Month to 115 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00001456 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Hermansky-Pudlak Syndrome (HPS), a rare inherited disorder characterized by albinism, bleeding issues due to platelet abnormalities, and potential complications such as pulmonary fibrosis. Researchers will evaluate patients with HPS of all ethnic backgrounds, perform mutation analysis for known HPS-causing genes, and investigate the basic mechanisms of the disease. The study aims to assess the clinical severity of HPS and understand its natural history and genetic variants. Participants will include individuals with HPS and their family members, with an estimated enrollment of 600 subjects.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Hermansky-Pudlak Syndrome or their family members aged 1-80 years.
Not a fit: Patients who are pregnant or unable to provide consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of HPS and lead to improved management strategies for affected patients.
How similar studies have performed: While there have been studies on HPS, this particular approach of comprehensive clinical evaluation and genetic analysis is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Wendy J Introne, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Wendy J Introne, M.D.
- Email: wi2p@nih.gov
- Phone: (301) 451-8879
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.