NCT00001456 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
| NCT ID | NCT00001456 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Human Genome Research Institute (NHGRI) |
| Condition | Hermansky-Pudlak Syndrome (HPS) |
| Study Type | OBSERVATIONAL |
| Enrollment | 600 participants |
| Start Date | 1995-11-06 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 600 participants in total. It began in 1995-11-06.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS. The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.\<TAB\>
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.
Contact & Investigator
Wendy J Introne, M.D.
PRINCIPAL INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Frequently Asked Questions
Who can join the NCT00001456 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 115 Years, studying Hermansky-Pudlak Syndrome (HPS). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00001456 currently recruiting?
Yes, NCT00001456 is actively recruiting participants. Contact the research team at wi2p@nih.gov for enrollment information.
Where is the NCT00001456 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT00001456 clinical trial?
NCT00001456 is sponsored by National Human Genome Research Institute (NHGRI). The principal investigator is Wendy J Introne, M.D. at National Human Genome Research Institute (NHGRI). The trial plans to enroll 600 participants.