At a glance
ClinicalIndex Comparison Record- ✓Confirmed diagnosis of Hermansky-Pudlak Syndrome based on molecular testing or electron microscopic evidence of platelet dense body deficiency
- ✓Age over 18 years
- ✓Moderate pulmonary fibrosis with FVC 50-85% predicted OR DL(co) 35-80% predicted, without pulmonary embolism
- ✓Evidence of reduced exercise tolerance lasting >1 week on symptom questionnaire
- ✕History of environmental exposure causing pulmonary fibrosis (asbestos, beryllium, radiation, domestic birds, drugs)
- ✕Alternative explanation for interstitial lung disease (radiation, sarcoidosis, hypersensitivity pneumonitis, bronchiolitis obliterans organizing pneumonia, cancer)
- ✕Diagnosis of connective tissue disease (scleroderma, systemic lupus erythematosus, rheumatoid arthritis)
- ✕Listed for lung transplantation
Standardized by ClinicalIndex from the ClinicalTrials.gov record · verify against the source.
Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
In Brief
A Phase 2 clinical trial evaluating Pirfenidone and Placebo for Albinism and 4 related conditions. Completed, enrolled 35 participants across 1 site.
Detailed Summary
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that 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 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 up to 40 HPS patients diagnosed with pulmonary fibrosis. The patients will be randomly divided into 2 groups. The patients will not know if they are taking pirfenidone or a placebo "sugar pill". 1. Group one will be patients who will receive pirfenidone. 2. Group two will be patients 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 other.
Study Details
Timeline
Interventions
Treatment with pirfenidone 801 mg (3 pills of 267 mg each), three times daily.
Placebo (3 pills), three times daily.