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Mucopolysaccharidosis type 9

MONDO:0011093

An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.

Also known as: MPS9, MPSIX, mucopolysaccharidosis type 9, mucopolysaccharidosis type IX, MPS 9, hyaluronidase deficiency, mucopolysaccharidosis IX, mucopolysaccharidosis, type 9

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

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Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Inborn errors of metabolism (45) Lysosomal storage disease (35) Human disease (14) Mucopolysaccharidosis (13) Developmental defect during embryogenesis (8)
Trials to join now! 1 Not yet recruiting 2 Not yet finished but already full! 1
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  • Massive french study aims to unlock secrets of rare MPS diseases

    Knowledge-focused Recruiting now

    This observational study will follow up to 1,000 people in France with mucopolysaccharidosis (MPS), a group of rare genetic disorders. Researchers will collect medical data from patient records and ongoing checkups to map how the diseases progress and how current treatments affec…

    Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused

    Last updated Jun 27, 2026 09:05 UTC

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