The Natural History of Mucolipidosis Type IV

NCT01067742 | Terminated

• 2 other identifiers: 008-295U54NS065768
• Study Type: observational
• Target: 7
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Mucolipidosis Type IV

Keywords

Mucolipidosis, retinal dystrophy, mucolipin-1,; lysosomal storage disease, gastrin, mental retardation,; dysmyelination, dysplastic corpus callosum,corneal clouding

Outcome Measures

Primary Outcomes (1)

• Neuropsychological testing

  Annual by 5 years

Secondary Outcomes (6)

• 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

Study Arms (1)

Subjects with Mucolipidosis Type IV

Eligibility Criteria

• Age: 1 Year - 64 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Subjects previously identified with Mucolipidosis Type IV

You may qualify if:

• 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

Sponsors & Collaborators

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

Study Sites (1)

Baylor Institute of Metabolic Disease

Dallas, Texas, 75226, United States

Location

Related Publications (1)

• 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.

  PMID: 31883529 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

blood, urine and skin

MeSH Terms

Conditions

Mucolipidoses; Retinal Dystrophies; Lysosomal Storage Diseases; Intellectual Disability; Demyelinating Diseases; Agenesis of Corpus Callosum; Corneal Opacity

Condition Hierarchy (Ancestors)

Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Retinal Degeneration; Retinal Diseases; Eye Diseases; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders; Nervous System Malformations; Congenital Abnormalities; Pathological Conditions, Anatomical; Corneal Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 10, 2010
• First Posted: February 12, 2010
• Study Start: February 19, 2009
• Primary Completion: July 7, 2021
• Study Completion: July 7, 2021
• Last Updated: January 26, 2026

Record last verified: 2026-01

Locations

US (1)