Clinical Trial: Clinical and Basic Investigations into Hermansky-Pudlak Syndrome

This study is currently recruiting patients.

Sponsored by: National Human Genome Research Institute (NHGRI)
Information provided by: Warren G Magnuson Clinical Center (CC)


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.

Intestinal Disease
Kidney Disease
Myocardial Disease
Pulmonary Fibrosis

MedlinePlus related topics:  Cardiomyopathy;   Digestive Diseases;   Eye Diseases;   Genetic Disorders;   Kidney Diseases;   Metabolic Disorders;   Pulmonary Fibrosis;   Skin Diseases;   Skin Pigmentation Disorders

Study Type: Observational
Study Design: Natural History

Further Study Details: 

Expected Total Enrollment:  200

Study start: September 20, 1995

Hermansky-Pudlak Syndrome is a rare autosomal recessive disease consisting of the triad 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. 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 are recently described and have not been fully characterized. The complete clinical picture and the basic defects underlying the various subtypes of HPS remain unknown, except that HPS-2 disease results from mutations in the beta 3A subunit of a coat protein, adaptor complex-3, responsible for intracellular vesicle formation. 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 every two years.


Genders Eligible for Study:  Both


HPS patients of any gender and ethnicity age 1-70 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.
Patient will be excluded if they cannot travel to the NIH because of their medical condition, or are less than 1 year of age.

Location and Contact Information

      National Human Genome Research Institute (NHGRI), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting
Patient Recruitment and Public Liaison Office  1-800-411-1222 
TTY  1-866-411-1010 

More Information

Detailed Web Page


Witkop CJ, Nunez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R. 1990 Aug;82(8):333-9.

Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. Am J Med. 1979 May;66(5):737-47.

Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med. 1980 Jan;92(1):20-3.

Study ID Numbers:  950193; 95-HG-0193
Record last reviewed:  August 31, 2004
Last Updated:  November 23, 2004
Record first received:  November 3, 1999 Identifier:  NCT00001456
Health Authority: United States: Federal Government processed this record on 2005-04-08

Cache Date: April 9, 2005