New study tracks rare disease MLIV to map its natural course
NCT ID NCT05782387
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks back at medical records of 50 people with Mucolipidosis Type IV (MLIV) to learn how the disease typically progresses. Researchers want to know when children reach or lose developmental milestones, how their movement and vision change, and what lab results look like. The goal is to better understand MLIV, which may help design future treatments.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 50 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Mar 2023
- Expected to finish
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Sep 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
We expect to enroll 50 MLIV patients who are currently in communication with the ML4 Foundation. This population is comprised of male and female patients, ages 2-45. Many patients are of Ashkenazi Jewish background. These participant candidates are located nationally and internationally.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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). Exclusion Criteria: * 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Massachusetts General Hospital
Boston, Massachusetts, 02144, United States
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Other studies related to the condition(s) this trial covers.