A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

NCT02368340 | Completed DMC

• 2 other identifiers: 150104U54HL127672
• Study Type: observational
• Target: 55
• Locations: 1 country
• Sites: 5

Brief Summary

Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. Pulmonary fibrosis causes shortness of breath and progressive decline in lung function. In HPS patients with at-risk subtypes, almost all adults eventually develop fatal pulmonary fibrosis unless they undergo lung transplantation. The purpose of this study is to identify the earliest measurable pulmonary disease activity in individuals at-risk for HPS pulmonary fibrosis. The study also aims to develop biomarkers that will aid in understanding of the causes of HPS pulmonary fibrosis and facilitate more rapid conduct of therapeutic trials in HPS patients with mild pulmonary disease in the future.

Conditions

Hermansky Pudlak Syndrome

Outcome Measures

Primary Outcomes (1)

• Chest CT scan

  change in CT Scan from baseline to 2.5 years

Secondary Outcomes (1)

• Pulmonary function test

  change in PFTs from baseline to 2.5 years

Study Arms (4)

Adults with pulmonary fibrosis

This group includes adults with HPS who have known pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.

Other: Sample collection

Adults at-risk

This group includes adults with HPS with subtypes at-risk for pulmonary fibrosis, but who do not have known pulmonary fibrosis. Subjects in this group will undergo chest CT and pulmonary function testing, and provide blood and urine specimens.

Other: Pulmonary function test; Other: Chest CT; Other: Sample collection

HPS adults not at-risk

This group includes adults with HPS subtypes considered not at-risk for pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.

Other: Sample collection

Children with HPS at-risk

This group includes children with HPS subtypes at-risk for pulmonary fibrosis. Subjects in this group will undergo pulmonary function testing, and provide blood and urine specimens.

Other: Pulmonary function test; Other: Sample collection

Interventions

Pulmonary function test OTHER

Pulmonary function testing performed

Adults at-risk; Children with HPS at-risk

Chest CT OTHER

Chest CT scan to evaluate for pulmonary fibrosis

Adults at-risk

Sample collection OTHER

Blood and urine sample collections

Adults at-risk; Adults with pulmonary fibrosis; Children with HPS at-risk; HPS adults not at-risk

Eligibility Criteria

• Age: 12 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with diagnosis of Hermansky-Pudlak Syndrome

You may qualify if:

• Individuals ages 12-90 years with confirmed diagnosis of HPS as defined by verification of reduced or absent platelet dense granules by electron microscopy and/or genetic diagnosis
• Ability to provide informed consent, or consent of parent/guardian and assent for minors

You may not qualify if:

• Status-post lung transplantation
• Perceived unsuitability for participation in the study in the opinion of the investigator

Sponsors & Collaborators

• Vanderbilt University: lead
• University of South Florida: collaborator
• National Institutes of Health (NIH): collaborator
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (5)

Loyola University Medical Center

Maywood, Illinois, 60153, United States

Location

Brigham and Women's Hospital, Harvard

Boston, Massachusetts, 02115, United States

Location

Columbia University Medical Center

New York, New York, 10032, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Vanderbilt University

Nashville, Tennessee, 37232, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood, urine, lymphocytes

MeSH Terms

Conditions

Hermanski-Pudlak Syndrome

Interventions

Respiratory Physiological Phenomena; Specimen Handling

Condition Hierarchy (Ancestors)

Albinism, Oculocutaneous; Albinism; Eye Diseases, Hereditary; Eye Diseases; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Platelet Storage Pool Deficiency; Blood Platelet Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Skin Diseases, Genetic; Hypopigmentation; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Circulatory and Respiratory Physiological Phenomena; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Lisa R. Young, MD

  Vanderbilt University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: February 13, 2015
• First Posted: February 23, 2015
• Study Start: March 1, 2015
• Primary Completion: October 15, 2019
• Study Completion: October 15, 2019
• Last Updated: June 24, 2020

Record last verified: 2020-06

Locations

US (5)