Mucolipidosis Type IV Natural History Study
Running, not enrolling
Conditions studied: Mucolipidosis Type IV
In brief
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.
Key facts
- Study ID
- NCT05782387
- Run by
- Massachusetts General Hospital
- People needed
- 50
- Starts
- 2023-03-15
- Expected to finish
- 2028-09-01
- Last updated by the study team
- 2026-04-23
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Patient of any age or gender with a diagnosis of MLIV confirmed through 1) genetic testing and identification of homozygous MCOLN1 allele variants known to be pathogenic, or 2) clinical characteristics consistent with MLIV and one of the following: a) electron microscopy of fibroblasts or other patient cells demonstrating abnormal lysosomal accumulations consistent with MLIV, or b) elevated gastrin levels (pathognomonic for MLIV in the setting of a neurodevelopmental disorder). Potential participants or guardians must be able to provide informed consent (patient assent is not applicable to the MLIV population).
You may not qualify if…
- Patients will be excluded from data collection if they do not meet any of the diagnostic criteria outlined above or they and their guardians are unable to provide informed consent. It may be possible that an initial review of collected medical records by MGH research staff after consent and enrollment suggests a misdiagnosis of MLIV. In this case the subject will be excluded from the study. Research staff will contact the patient/guardians by email and schedule a telephone or teleconference meeting to discuss the decision. All medical records will be immediately destroyed upon exclusion of a participant.
Where it is running
- Massachusetts General Hospital — Boston, Massachusetts, United States
Full record on ClinicalTrials.gov
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