The Natural History of Mucolipidosis Type IV

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.

The purpose of this research study is to look at the brain and eye in patients with mucolipidosis type IV (MLIV). MLIV is a lysosomal storage disease that primarily affects the brain and the eyes. The disease is caused by a defect in a gene called MCLON1 that makes a protein called mucolipin-1. Patients with MLIV do not make enough normal mucolipin. The disease begins early in life and the neurological problems seem to stabilize later in life. On the other hand, the eye abnormalities usually progresses over time. The exact course of the disease has not been determined, and until now, no study has addressed this question carefully.

The research objectives are:

1. To learn about the natural history of cognitive function for individuals with mucolipidosis type IV.
2. To measure brain volume over time in individuals with mucolipidosis type IV

This is an observational study of individuals with MLIV disorder. Those participating in this study will be evaluated annually for five years following a baseline visit.

• Study Weblinks:
  • Lysosomal Disease Network
• Study Design:
  • Prospective Longitudinal Cohort
• Study Type:
  • Longitudinal
• Total number of consented subjects: 5
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed
• MeSH
• Gene
• PMC
• Clinical Trials
  • NCT01067742

Inclusion criteria:

1. All patients with a definitive diagnosis of MLIV based at least on a compatible history, mutated MCOLN1 gene and significantly elevated blood gastrin levels will be considered as potential candidates for this study.
2. The general health and well being of each candidate must be sufficient to allow travel to Baylor Institute of Metabolic Disease in Dallas, Texas, modest amount of blood drawing, and performance of necessary neuroimaging studies under monitored sedation (NIH).
3. The patient must be able to return to Dallas once a year for a follow up.
4. Females of child bearing potential who have had a negative pregnancy test.

Exclusion Criteria:

1. Refusal to sign the protocol consent form.
2. Candidates who are unable to travel to the Baylor University Medical Center, Dallas, Texas.
3. Pregnant or nursing females.

• Study Activated September 7, 2010
• First Accrual May 18, 2011

• Primary Phenotype: Mucolipidosis IV

• MCOLN1

• Study Chair
  • Raphael Schiffmann, MD. Baylor Research Institute, Dallas, TX, USA.
• Current Funding Source
  • U54-NS065768-06. National Institutes of Health, Bethesda, MD, USA.