The Natural History of Mucolipidosis Type IV

The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.

Study Overview

• Status: Terminated
• Conditions: Mucolipidosis Type IV

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 7

Contacts and Locations

Study Locations

• United States
  • Texas
    • Dallas, Texas, United States, 75226
      • Baylor Institute of Metabolic Disease

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 60 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Subjects previously identified with Mucolipidosis Type IV

Description

Inclusion Criteria:

Subjects must:

• Have a definitive diagnosis of MLIV based at least on a compatible history and significantly elevated blood gastrin levels
• Be able to travel to the Baylor Institute of Metabolic Disease in Dallas and spend 2-3 working days on site
• Be able to tolerate a general exam and neurological exam
• Be able to tolerate a modest amount of blood drawing, provide a urine specimen, and have a skin biopsy(if not previously done)
• Be able to tolerate the performance of necessary neuroimaging studies to include EEG and Head MRI
• Be able to tolerate a neuropsychological testing and rehabilitation evaluation

Exclusion Criteria:

-

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Subjects with Mucolipidosis Type IV

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Neuropsychological testing	Annual by 5 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Blood tests	Annual by 5 years
Urine tests	Annual by 5 years
MRI of the brain	Annual by 5 years
Rehabilitation evaluation	Annual by 5 years
Nutritional status evaluation	Annual by 5 years
Skin biopsy	1 year only

Collaborators and Investigators

• Sponsor: Baylor Research Institute
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institute of Neurological Disorders and Stroke (NINDS); Rare Diseases Clinical Research Network; National Center for Advancing Translational Sciences (NCATS)

Publications and helpful links

General Publications

• Cougnoux A, Drummond RA, Fellmeth M, Navid F, Collar AL, Iben J, Kulkarni AB, Pickel J, Schiffmann R, Wassif CA, Cawley NX, Lionakis MS, Porter FD. Unique molecular signature in mucolipidosis type IV microglia. J Neuroinflammation. 2019 Dec 28;16(1):276. doi: 10.1186/s12974-019-1672-4.

Study record dates

Study Major Dates

• Study Start (Actual): February 19, 2009
• Primary Completion (Actual): July 7, 2021
• Study Completion (Actual): July 7, 2021

Study Registration Dates

• First Submitted: February 10, 2010
• First Submitted That Met QC Criteria: February 10, 2010
• First Posted (Estimated): February 12, 2010

Study Record Updates

• Last Update Posted (Actual): January 26, 2026
• Last Update Submitted That Met QC Criteria: January 23, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: Mucolipidosis, retinal dystrophy, mucolipin-1,; lysosomal storage disease, gastrin, mental retardation,; dysmyelination, dysplastic corpus callosum,corneal clouding
• Additional Relevant MeSH Terms: Neurologic Manifestations; Bone Diseases; Musculoskeletal Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders; Pathological Conditions, Anatomical; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Neurobehavioral Manifestations; Eye Diseases; Corneal Diseases; Bone Diseases, Metabolic; Congenital Abnormalities; Neurodevelopmental Disorders; Carbohydrate Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Nervous System Malformations; Retinal Diseases; Retinal Degeneration; Lysosomal Storage Diseases, Nervous System; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Signs and Symptoms; Intellectual Disability; Retinal Dystrophies; Demyelinating Diseases; Lysosomal Storage Diseases; Mucolipidoses; Agenesis of Corpus Callosum; Corneal Opacity
• Other Study ID Numbers: 008-295; U54NS065768 (U.S. NIH Grant/Contract)