Syndromic oculocutaneous albinism
MONDO:0017305A oculocutaneous albinism that is part of a larger syndrome.
Also known as: syndrome associated with oculocutaneous albinism, syndromic oculocutaneous albinism
12 clinical trials for this condition and its sub-types, 0 tagged with Syndromic oculocutaneous albinism itself.
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Sub-types of Syndromic oculocutaneous albinism
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Chediak-Higashi syndrome 9 trials
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Hermansky-Pudlak syndrome 4 trials
9 sub-types
- Hermansky-Pudlak syndrome with pulmonary fibrosis 0 trials · 1 incl. sub-types Sub-types →
- Hermansky-Pudlak syndrome 10 0 trials
- Hermansky-Pudlak syndrome 11 0 trials
- Hermansky-Pudlak syndrome 2 0 trials
- Hermansky-Pudlak syndrome 7 0 trials
- Hermansky-Pudlak syndrome 8 0 trials
- Hermansky-Pudlak syndrome 9 0 trials
- Hermansky-Pudlak syndrome without pulmonary fibrosis 0 trials Sub-types →
- Kotzot-Richter syndrome 0 trials
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Griscelli syndrome 2 trials · 3 incl. sub-types
3 sub-types
- Griscelli syndrome type 2 1 trial
- Griscelli syndrome type 1 0 trials
- Griscelli syndrome type 3 0 trials
Most studied deeper sub-types
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Milder chemo before stem cell transplant shows promise for rare blood disorders
Disease control Recruiting nowThis study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…
Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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Milder transplant method aims to help young patients with rare blood diseases
Disease control Recruiting nowThis study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…
Phase 2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
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Scientists launch deep dive into rare bleeding and lung disease
Knowledge-focused Recruiting nowThis study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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Scientists launch deep dive into rare genetic disease
Knowledge-focused Recruiting nowThis study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 30, 2026 00:00 UTC
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Massive eye gene bank aims to unlock secrets of rare blindness
Knowledge-focused Recruiting nowThis study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC