Protocol Number: 97-CH-0085

Title: Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome

Number: 97-CH-0085

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 most serious 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 drug Pirfenidone blocks the biochemical process of inflammation and has been reported to slow or reverse pulmonary fibrosis in animal systems.

In this study researchers will select 40 patients diagnosed with pulmonary fibrosis 20 who have not received steroid therapy in the last 3 months and 20 currently taking steroids. The patients will be randomly divided into 4 groups. The patients will not know if they are taking pifenidone or a placebo "sugar pill".

1. Group one will be patients not taking steroids who will receive pirfenidone.

2. Group two will be patients not taking steroids who will receive a placebo "sugar pill"

3. Group three will be patients taking steroids who will receive pirfenidone.

4. Group four will be patients taking steroids who will receive a placebo "sugar pill".

The major outcome measurement of the therapy will be a change in the lung function (forced vital capacity). The study will be stopped if one therapy proves to be more effective than the others.

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

Adult subjects with pulmonary disease will be enrolled and specific criteria will be based upon pulmonary function tests.

Patients will be required to have a forced vital capacity (FVC) in the range of 40-75% of normal.

Primary inclusion criterion will be an accurate diagnosis of HPS.

Patients on this study will also be enrolled on protocol 95-CH-0193 "Clinical and Basic Investigations into Hermansky-Pudlak Syndrome".

Hermansky-Pudlak Syndrome, diagnosed by absent platelet dense bodies on electron microscopy.

No smoking or use of high dose steroids in last 3 months; or any current therapy having an effect on pulmonary function.

No patient unwilling to comply with a medical regimen.

Must be able to travel.

Not pregnant.

Subjects of child bearing age must be on a reliable contraceptive method.

Breast feeding females will be eligible for this protocol, but not the gallium scan.

Because of a high prevalence of the disease, we are actively recruiting subjects of Puerto Rican decent through the HPS network.

No race or gender will be excluded from study.

Special Instructions:

This protocol includes a bronchoscopy, which is performed for research purposes only. You may elect not to have the bronchoscopy performed. This will have no impact on your continued participation on this study.

Disease Category:

Respiratory System

Keywords:

Restrictive Lung Disease

Albinism

Platelet Storage Pool Defect

Ceroid Lipofuscin

Recruitment Keywords:

Hermansky-Pudlak Syndrome

Investigational Drug(s):

Pirfenidone (Deskar)

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office, CC.
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Long Distance Calls: 1-800-411-1222
Fax: (301) 480-9793
Electronic Mail:http://clinicalstudies.info.nih.gov/cgi/protmail.cgi?PRPL+97-CH-0085

Citations:

Garay. 1979. Hermansky-Pudlak syndrome Pulmonary manifestations of a ceroid storage disorder, Am J Med, Vol. 66, p. 737

Iyer. 1995. Dietary intake of pirfenidone ameliorates bleomycin-induced lung fibrosis in hamsters, J Lab Clin Med, Vol. 125, p. 779

Witkop. 1990. Albinism and Hermansky-Pudlak syndrome in Puerto Rico, Bol Asoc Med P R, Vol. 82, p. 333

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