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Hermansky-Pudlak syndrome 8

MONDO:0013560

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.

Also known as: BLOC1S3 Hermansky-Pudlak syndrome, HPS8, Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome caused by mutation in BLOC1S3, Hermansky-Pudlak syndrome type 8

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Hematologic disorder (170) Skin disorder (132) Blood coagulation disease (53) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) Skin pigmentation disorder (11)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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  • Battlefield plasma goes civil: can a powder save trauma victims?

    Disease control Completed

    This study tested a freeze-dried plasma product that can be mixed with water in 6 minutes, avoiding the long thaw time of standard plasma. It included 42 trauma patients with severe bleeding who needed blood transfusions. The goal was to see if faster plasma delivery could improv…

    Phase: PHASE3 • Sponsor: University Hospital, Lille • Aim: Disease control

    Last updated Jun 27, 2026 12:23 UTC

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