Mucosulfatidosis
MONDO:0010088Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
Also known as: MSD, Multiple Sulfatase Deficiency, juvenile sulfatidosis, Austin type, mucosulfatidosis, multiple sulfatase deficiency disease, sulfatidosis, juvenile, Austin type, juvenile sulfatidosis, multiple sulfatase deficiency
4 clinical trials for this condition and its sub-types.
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Massive french study aims to unlock secrets of rare MPS diseases
Knowledge-focused Recruiting nowThis 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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Major study tracks rare brain diseases to unlock their secrets
Knowledge-focused Recruiting nowThis study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC