Hermansky-Pudlak syndrome

Last reviewed March 21, 2026

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ORPHA:79430OMIM:617050E70.3

Who is this for?

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1Active trials 19Specialists 8Treatment centers

Where are you in your journey?

ℹ

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.

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Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Partial albinismHP:0007443Ocular albinismHP:0001107

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events

Oct 2024The Effectiveness of the Health Promoting School Intervention Model in Reducing Overweight and Obesity Among School Children in Indonesia: a Mixed-Methods Protocol Study

Gadjah Mada University — NA

TrialNOT YET RECRUITING

Nov 1995Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

National Human Genome Research Institute (NHGRI) — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Hermansky-Pudlak syndrome.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →

N/A1 trial

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

N/A

Actively Recruiting

PI: Wendy J Introne, M.D. (National Human Genome Research Institute (NHGRI)) · Sites: Bethesda, Maryland · Age: 1–115 yrs

Specialists

19 foundView all specialists →

JK

Jeremy B Katzen

PHILADELPHIA, PA

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

JZ

Jarod A Zepp

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

DF

David B Frank

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

MB

Molly Behan

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

MM

May Christine V Malicdan

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

BG

Bernadette R Gochuico

BETHESDA, MD

Specialist

4 Hermansky-Pudlak syndrome publications

Directions Travel grants

JW

Joanna Y Wang

Specialist

3 Hermansky-Pudlak syndrome publications

Directions Travel grants

LY

Lisa R Young

Specialist

3 Hermansky-Pudlak syndrome publications

Directions Travel grants

SM

Sylvia N Michki

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

SS

Sneha Sitaraman

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

JG

Jason J Gokey

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

SL

Susan M Lin

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

MB

Maria C Basil

PHIADELPHIA, PA

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

EC

Edward Cantu

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

JK

Jonathan A Kropski

NASHVILLE, TN

Specialist

2 Hermansky-Pudlak syndrome publications

Directions Travel grants

LM

Lisa R. Young, MD

Specialist

Genetic hypopigmentation of the skin Hypopigmentation of the skin Ocular albinism+1 more

PI on 1 active trial1 Hermansky-Pudlak syndrome publication

Active trials Directions Travel grants

WM

Wendy J Introne, M.D.

Bethesda, Maryland

Specialist

Rare Disease Specialist

Alkaptonuria Genetic hypopigmentation of the skin Ocular albinism+1 more

PI on 4 active trials

Active trials Directions Travel grants

KC

Kevin J O'Brien, C.R.N.P.

Specialist

Erdheim-Chester disease Genetic eye tumor Genetic hypopigmentation of the skin+5 more

PI on 1 active trial

Active trials Directions Travel grants

SS

Suyash Shringarpure

Specialist

Oculocutaneous albinism Rare genetic coagulation disorder Rare genetic eye disease+1 more

PI on 1 active trial

Active trials Directions Travel grants

Treatment Centers

8 centers

⚗️ Trial Site

National Institutes of Health Clinical Center

📍 Bethesda, Maryland

👤 Payal P Khincha, M.D.

👤 Christopher Grunseich, M.D.

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Travel Grants

No travel grants are currently matched to Hermansky-Pudlak syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Hermansky-Pudlak syndrome

Disease timeline:

New trial: Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Phase NA trial recruiting.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Hermansky-Pudlak syndrome

Are there clinical trials for Hermansky-Pudlak syndrome?

Yes — 1 recruiting clinical trial is currently listed for Hermansky-Pudlak syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Hermansky-Pudlak syndrome?

19 specialists and care centers treating Hermansky-Pudlak syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.