Natural history of Mucolipidosis Type IV
A New Retrospective Natural History Study of Mucolipidosis Type IV
This study looks at the experiences of people with Mucolipidosis Type IV to understand how the condition affects their development and vision over time, which will help shape future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | Massachusetts General Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT05782387 on ClinicalTrials.gov |
What this trial studies
This observational study aims to describe the characteristics of the international population affected by Mucolipidosis Type IV (MLIV) by collecting and analyzing medical records of participants. It will define the median age at which patients achieve or lose developmental milestones and assess the natural history of MLIV using established scales. Additionally, the study will evaluate the rate of visual decline and analyze EEG and MRI abnormalities associated with the disease, providing essential baseline data for future gene therapy treatments. The findings will help inform the design of interventional trials and establish a developmental timeline for MLIV patients.
Who should consider this trial
Good fit: Ideal candidates for this study are patients of any age or gender with a confirmed diagnosis of Mucolipidosis Type IV.
Not a fit: Patients who do not meet the diagnostic criteria for MLIV or cannot provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide critical insights into the natural progression of MLIV, aiding in the development of targeted therapies.
How similar studies have performed: While this study focuses on the natural history of MLIV, similar observational studies have successfully characterized other rare diseases, suggesting potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Boston, Massachusetts
- Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Patricia Musolino, MD, PHD — Neurologist
- Study coordinator: Anna Lynch, BA
- Email: alynch22@mgh.harvard.edu
- Phone: 617-949-6960
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.