Clinical Trial: The Natural History of Mucolipidosis Type IV

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: The Natural History of Mucolipidosis Type IV

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

Detailed Summary: 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.
Sponsor: Baylor Research Institute

Current Primary Outcome: Neuropsychological testing [ Time Frame: Annual by 5 years ]

Original Primary Outcome: Subjects will receive a series of blood tests, neuropsychological testing, MRI of the brain, Electroencephalogram, Rehabilitation evaluation, and Nutritional status evaluation. [ Time Frame: Annual by 5 years ]

Current Secondary Outcome:

  • 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 ]


Original Secondary Outcome:

Information By: Baylor Research Institute

Dates:
Date Received: February 10, 2010
Date Started: September 2010
Date Completion: January 2021
Last Updated: January 12, 2016
Last Verified: January 2016