LYSOSOMAL STORAGE DISEASES
Clinical trials for LYSOSOMAL STORAGE DISEASES explained in plain language.
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100,000 newborns to be screened for rare genetic diseases in normandy
Diagnosis Recruiting nowThis study aims to screen about 100,000 newborns in Normandy, France, for two rare lysosomal storage diseases: MPS1 and Pompe disease. Using a blood spot test (tandem mass spectrometry), researchers want to see how common these conditions are and improve early detection. Parents …
Matched conditions: LYSOSOMAL STORAGE DISEASES
Phase: NA • Sponsor: University Hospital, Rouen • Aim: Diagnosis
Last updated May 26, 2026 05:04 UTC
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Scientists watch rare brain diseases unfold in 1,500 patients
Knowledge-focused Recruiting nowThis study follows 1,500 people with rare genetic brain disorders like MLD, Krabbe disease, and Batten disease. Researchers track thinking, movement, and language skills over time, and collect blood and MRI scans. The goal is to learn how these diseases progress, not to test a tr…
Matched conditions: LYSOSOMAL STORAGE DISEASES
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated May 26, 2026 04:38 UTC