The Natural History of Mucolipidosis Type IV

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2015 by Baylor Research Institute
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
Baylor Research Institute Identifier:
First received: February 10, 2010
Last updated: March 13, 2015
Last verified: March 2015

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

Mucolipidosis Type IV

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Natural History of Mucolipidosis Type IV

Resource links provided by NLM:

Further study details as provided by Baylor Research Institute:

Primary Outcome Measures:
  • Neuropsychological testing [ Time Frame: Annual by 5 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Blood tests [ Time Frame: Annual by 5 years ] [ Designated as safety issue: No ]
  • Urine tests [ Time Frame: Annual by 5 years ] [ Designated as safety issue: No ]
  • MRI of the brain [ Time Frame: Annual by 5 years ] [ Designated as safety issue: Yes ]
  • Rehabilitation evaluation [ Time Frame: Annual by 5 years ] [ Designated as safety issue: No ]
  • Nutritional status evaluation [ Time Frame: Annual by 5 years ] [ Designated as safety issue: No ]
  • Skin biopsy [ Time Frame: 1 year only ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

blood, urine and skin

Estimated Enrollment: 35
Study Start Date: September 2010
Estimated Study Completion Date: January 2016
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Subjects with 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.


Ages Eligible for Study:   1 Year to 64 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Subjects previously identified with Mucolipidosis Type IV


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:


  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01067742

Contact: Caren Swift, BSN RN 214-820-4857

United States, Texas
Baylor Institute of Metabolic Disease Recruiting
Dallas, Texas, United States, 75226
Contact: Raphael Schiffmann, MD, M.H.Sc.   
Contact: Caren Swift, BSN RN    214-820-4857   
Principal Investigator: Raphael Schiffmann, MD, M.H.Sc.         
Sponsors and Collaborators
Baylor Research Institute
Rare Diseases Clinical Research Network
  More Information

Additional Information:
No publications provided

Responsible Party: Baylor Research Institute Identifier: NCT01067742     History of Changes
Other Study ID Numbers: 008-295, U54NS065768
Study First Received: February 10, 2010
Last Updated: March 13, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Baylor Research Institute:
Mucolipidosis, retinal dystrophy, mucolipin-1,
lysosomal storage disease, gastrin, mental retardation,
dysmyelination, dysplastic corpus callosum,corneal clouding

Additional relevant MeSH terms:
Bone Diseases
Bone Diseases, Metabolic
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Carbohydrate Metabolism, Inborn Errors
Central Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Metabolism, Inborn Errors
Musculoskeletal Diseases
Nervous System Diseases processed this record on September 02, 2015