Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Renal Impairment / Chronic Kidney Disease, Cardiology, Gastrointestinal, Pulmonary |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Gastroenterology, Nephrology / Urology, Pulmonary / Respiratory Diseases, Other |
| Healthy: | No |
| Age Range: | 1 - 80 |
| Updated: | 3/20/2019 |
| Start Date: | September 2, 1995 |
| Contact: | Bernadette R Gochuico, M.D. |
| Email: | gochuicb@mail.nih.gov |
| Phone: | (301) 451-7979 |
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.
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.
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disease consisting of
oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal
accumulation of ceroid lipofuscin. Other manifestations include pulmonary fibrosis (often
fatal in the fourth or fifth decade), chronic granulomatous colitis and, rarely, renal
involvement or cardiomyopathy. There exist 8 different genes known to cause HPS, but only
HPS-2 has a basic defect that is known. HPS-2 disease results from mutations in the b3A
subunit of a coat protein, adaptor complex-3, responsible for intracellular vesicle
formation. One severe subtype of the disorder, HPS-1, is common in northwest Puerto Rico, and
another milder subtype, HPS-3, is seen in central Puerto Rico. HPS-4 disease displays no
founder population, and its severity resembles that of HPS-1. HPS-5 and HPS-6 resemble HPS-3
in severity. HPS-7 and HPS-8 are recently described and have not been fully characterized. In
this protocol, we will clinically evaluate HPS patients of all ethnicities, obtain cells,
plasma, and urine for future studies, perform mutation analysis for known HPS-causing genes,
and search for other genes responsible for HPS. Routine admissions will last 4-5 days and
occur approximately every two years.
oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal
accumulation of ceroid lipofuscin. Other manifestations include pulmonary fibrosis (often
fatal in the fourth or fifth decade), chronic granulomatous colitis and, rarely, renal
involvement or cardiomyopathy. There exist 8 different genes known to cause HPS, but only
HPS-2 has a basic defect that is known. HPS-2 disease results from mutations in the b3A
subunit of a coat protein, adaptor complex-3, responsible for intracellular vesicle
formation. One severe subtype of the disorder, HPS-1, is common in northwest Puerto Rico, and
another milder subtype, HPS-3, is seen in central Puerto Rico. HPS-4 disease displays no
founder population, and its severity resembles that of HPS-1. HPS-5 and HPS-6 resemble HPS-3
in severity. HPS-7 and HPS-8 are recently described and have not been fully characterized. In
this protocol, we will clinically evaluate HPS patients of all ethnicities, obtain cells,
plasma, and urine for future studies, perform mutation analysis for known HPS-causing genes,
and search for other genes responsible for HPS. Routine admissions will last 4-5 days and
occur approximately every two years.
- INCLUSION CRITERIA
HPS patients of any gender and ethnicity age 1-80 years are eligible to enroll in this
protocol.
Patients will be diagnosed as having HPS based upon a paucity or deficiency of platelet
dense bodies on whole mount electron microscopy.
Some patients who have not yet had this laboratory test will be admitted to the protocol
based upon the presence of albinism combined with a platelet storage pool deficiency.
EXCLUSION CRITERIA
Patient will be excluded if they cannot travel to the NIH because of their medical
condition.
Infants under age one.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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