PFF Clinical Trial Finder

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Study Purpose

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.

Recruitment Criteria

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Accepts Healthy Volunteers
No

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Study Type
Observational
Eligible Ages 12 Years - 90 Years
Gender All
More Inclusion & Exclusion Criteria

Inclusion Criteria:

- 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

Exclusion Criteria:

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

Trial Details

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

Trial ID:
NCT02368340

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Phase

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Lead Sponsor
Vanderbilt University

The person who is responsible for the scientific and technical direction of the entire clinical study.

Principal Investigator
Lisa R. Young, MD
Principal Investigator Affiliation Vanderbilt University

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Agency Class
OtherOtherNIHNIH
Overall Status Recruiting
Countries United States

The disease, disorder, syndrome, illness, or injury that is being studied.

Conditions
Hermansky Pudlak Syndrome

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

Mayo Clinic - Florida, Jacksonville, Florida

Status

Recruiting

Address

Mayo Clinic - Florida

Jacksonville, Florida, 32224

Site Contact

Charles Burger, MD

burger.charles@mayo.edu

904-953-2282

Loyola University Medical Center, Maywood, Illinois

Status

Recruiting

Address

Loyola University Medical Center

Maywood, Illinois, 60153

Site Contact

Daniel Dilling, MD

ddillin@lumc.edu

708-216-0461

Brigham and Women's Hospital, Harvard, Boston, Massachusetts

Status

Recruiting

Address

Brigham and Women's Hospital, Harvard

Boston, Massachusetts, 02115

Site Contact

Souheil El-Chemaly, MD

Sel-chemaly@partners.org

617-732-6869

Columbia University Medical Center, New York, New York

Status

Recruiting

Address

Columbia University Medical Center

New York, New York, 10032

Site Contact

David Lederer, MD

dl427@cumc.columbia.edu

212-305-6589

Cincinnati, Ohio

Status

Recruiting

Address

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229

Site Contact

Bruce Trapnell, MD

bruce.trapnell@cchmc.org

513-636-6361

Vanderbilt University, Nashville, Tennessee

Status

Recruiting

Address

Vanderbilt University

Nashville, Tennessee, 37232

Site Contact

Lisa R. Young, MD

Lisa.Young@vanderbilt.edu

615-343-7617

Terms of Service

The PFF does not promote or represent that any investigational new drugs mentioned are safe or effective. The content provided on clinical trials is for informational purposes only and is not a substitute for medical consultation with your healthcare provider. We do not recommend or endorse any specific study and you are advised to discuss the information shown with your healthcare provider. While we believe the information presented on this website to be accurate at the time of writing, we do not guarantee that its contents are correct, complete, or applicable to any particular individual situation. We strongly encourage individuals to seek out appropriate medical advice and treatment from their physicians. We cannot guarantee the availability of any clinical trial listed and will not be responsible if you are considered ineligible to participate in a given clinical trial. We are also not liable for any injury arising as a result of participation. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. For a full description of terms please refer to our Terms, Conditions & Privacy.

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