An observational study in Mucolipidosis Type IV, sponsored by Baylor Research Institute. Terminated at 1 site in United States. Open to participants aged 1 Year to 64 Years. Per ClinicalTrials.gov, last updated 2026-01-26.
Sponsored by Baylor Research Institute · Observational
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. By the end of the first decade of life, and always by their early teens, individuals with typical MLIV develop severe visual impairment as a result of retinal degeneration. MLIV is an under-diagnosed and unique lysosomal disorder in that it often is mistaken either for cerebral palsy or for a retinal dystrophy of unknown cause. In addition, it is caused by a defect in a cation channel rather than by a lysosomal hydrolase. This study represents the only prospective clinical study in this patient population. Now that an animal model has been created and novel therapies will likely be tested, it is particularly important to define the natural history of this disorder and identify potential clinical outcome measures.
60 studies on the registry are indexed under Retinal Dystrophies; 20 are open to participants now.
This study's enrollment of 7 is below the median of 112 across 26 observational studies indexed under Retinal Dystrophies.
Browse Retinal Dystrophies studies →Baylor Research Institute is the lead sponsor of 223 studies on the registry; 48 are open to participants now.
Of its 23 completed or terminated interventional studies of FDA-regulated products, 9 (39%) have results posted.
Counted across the registry records on this site, refreshed daily.
Subjects previously identified with Mucolipidosis Type IV
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Subjects must:
Exclusion Criteria:
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Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Neuropsychological testing
Time frame: Annual by 5 years
Blood tests
Time frame: Annual by 5 years
Urine tests
Time frame: Annual by 5 years
MRI of the brain
Time frame: Annual by 5 years
Rehabilitation evaluation
Time frame: Annual by 5 years
Nutritional status evaluation
Time frame: Annual by 5 years
Skin biopsy
Time frame: 1 year only
This study is terminated, as verified in Jan 2026. You cannot join it, but the record below documents what was studied.
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