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Familial mucolipidosis

MONDO:0031422

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

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Sub-types

Mucolipidosis type IV (3) Sialidosis type 1 (2) Congenital sialidosis type 2 (0) GNPTG-mucolipidosis (0) Juvenile sialidosis type 2 (0) Mucolipidosis type III, alpha/beta (0) Sialidosis type 2 (0)

Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Inborn errors of metabolism (47) Lysosomal storage disease (36) Human disease (15) Developmental defect during embryogenesis (8) Mucolipidosis (4) Disease of genetic or genomic mechanism (2) Developmental anomaly of metabolic origin (0)

Trials to join now! 1 Not yet finished but already full! 2 Terminated 2

Scientists track rare brain diseases to unlock clues for future treatments

Knowledge-focused Recruiting now

This study follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Sep 02, 2026 00:00 UTC