Hermansky Pudlak SyndromeNCT02368340
A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
An observational study of Hermansky Pudlak Syndrome, run by Vanderbilt University at 5 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 to 90 years
- Conditions the study is for
- Hermansky Pudlak Syndrome
- What is being tested?
- Pulmonary function test, Chest CT and Sample collection
- How many people
- 55 participants
- Where
- 5 sitesUnited States
- Study dates
- Mar 2015to 15 Oct 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 to 90 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with diagnosis of Hermansky-Pudlak Syndrome
Who may be able to join
- 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
Who cannot join
- Status-post lung transplantation
- Perceived unsuitability for participation in the study in the opinion of the investigator
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
Brigham and Women's Hospital, Harvard
Boston, Massachusetts, 02115
Loyola University Medical Center
Maywood, Illinois, 60153
Vanderbilt University
Nashville, Tennessee, 37232
Columbia University Medical Center
New York, New York, 10032
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
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
- Being tested
- Pulmonary function test, Chest CT, Sample collection
- Medical subject headings
- Hermanski-Pudlak Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pulmonary function testOther
Pulmonary function testing performed
Chest CTOther
Chest CT scan to evaluate for pulmonary fibrosis
Sample collectionOther
Blood and urine sample collections
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: 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. Receives: 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. Receives: Other: Pulmonary function test; Other: Sample collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Chest CT scan
Measured: change in CT Scan from baseline to 2.5 years
Secondary outcomes (1)
Pulmonary function test
Measured: change in PFTs from baseline to 2.5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2015 (estimated)
- Study startMar 2015
- Primary completion15 Oct 2019
- Study completion15 Oct 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hermansky Pudlak SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 55 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vanderbilt University
- Sponsor type
- University, hospital or other
- Collaborators
- University of South Florida, National Institutes of Health (NIH), National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Principal investigator, Lisa Young, Vanderbilt University
- Investigators
- Lisa R. Young, MD, Principal investigator, Vanderbilt University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02368340
- Sponsor's protocol ID
- 150104
- Other IDs
- U54HL127672
- Status last verified
- Jun 2020
- First submitted
- 13 Feb 2015
- Last updated
- 24 Jun 2020
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
- ClinicalTrials.gov ID
- NCT02368340
- Acronym / sponsor ID
- 150104
- Conditions
- Hermansky Pudlak Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 55 participants (actual)
- Lead sponsor
- Vanderbilt UniversityUniversity, hospital or other
- Collaborators
- University of South Florida, National Institutes of Health (NIH), National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Mar 2015 (actual)
- Primary completion
- 15 Oct 2019 (actual)
- Study completion
- 15 Oct 2019 (actual)
- First posted
- 23 Feb 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Adults with pulmonary fibrosis | – | Other: Sample collectionThis group includes adults with HPS who have known pulmonary fibrosis. Subjects in this group will provide blood and urine specimens. |
| Adults at-risk | – | Other: Pulmonary function test, Other: Chest CT, Other: Sample collectionThis 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. |
| HPS adults not at-risk | – | Other: Sample collectionThis group includes adults with HPS subtypes considered not at-risk for pulmonary fibrosis. Subjects in this group will provide blood and urine specimens. |
| Children with HPS at-risk | – | Other: Pulmonary function test, Other: Sample collectionThis 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. |
Who may qualify
- Ages
- 12 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with diagnosis of Hermansky-Pudlak Syndrome
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (2 listed)
- Status-post lung transplantation
- Perceived unsuitability for participation in the study in the opinion of the investigator
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Pulmonary function testPulmonary function testing performed | Other | Adults at-risk, Children with HPS at-risk |
| Chest CTChest CT scan to evaluate for pulmonary fibrosis | Other | Adults at-risk |
| Sample collectionBlood and urine sample collections | Other | Adults at-risk, Adults with pulmonary fibrosis, Children with HPS at-risk, HPS adults not at-risk |
Primary outcome
Chest CT scan
Time frame: change in CT Scan from baseline to 2.5 years
1 secondary outcome
Pulmonary function test
Time frame: change in PFTs from baseline to 2.5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2020.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Lisa R. Young, MD principal investigator
Vanderbilt University
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hermansky Pudlak Syndrome, run by Vanderbilt University at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Jun 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Chest CT scan (time frame: change in CT Scan from baseline to 2.5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2020; AzTrials last refreshed its copy on 8 Nov 2026.