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First received: February 08, 2023

Clinical Trial: Mucolipidosis Type IV Natural History Study

Study Status: Completed

Recruit Status: RECRUITING

Condition: Mucolipidosis Type IV

Study Type: OBSERVATIONAL


Official Title: A New Retrospective Natural History Study of Mucolipidosis Type IV

Brief Summary: The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris and Bartlett, 2004) and the MLIV specific scale and test the validity of retrospectively applying these scales to medical record data; to define the rate of visual decline in patients with MLIV.

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