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Mucolipidosis type IV

MONDO:0009653

A lysosomal disease characterized by psychomotor delay, progressive visual impairment, and achlorhydria.

Also known as: ML 4, ML IV, ML4, MLIV, Mucolipidosis IV, mucolipidosis IV, mucolipidosis type 4, mucolipidosis type IV

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

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Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Eye disorder (104) Inborn errors of metabolism (47) Lysosomal storage disease (36) Human disease (15) Developmental defect during embryogenesis (8) Mucolipidosis (4) Disorder of orbital region (3)

Not yet finished but already full! 2 Terminated 1

Rare disease study aims to map MLIV's natural course

Knowledge-focused Stopped early

This study followed 7 people with Mucolipidosis Type IV (MLIV) to learn how the disease naturally progresses. Researchers used tests like neuropsychological exams, blood and urine tests, and brain MRIs to find better ways to measure the disease. The goal was to improve future cli…

Sponsor: Baylor Research Institute • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:14 UTC