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Trial record 2 of 5 for:    mucolipidosis | Recruiting, Not yet recruiting, Available Studies

The Natural History of Mucolipidosis Type IV

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ClinicalTrials.gov Identifier: NCT01067742
Recruitment Status : Recruiting
First Posted : February 12, 2010
Last Update Posted : July 18, 2018
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
National Center for Advancing Translational Science (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
Baylor Research Institute

Tracking Information
First Submitted Date February 10, 2010
First Posted Date February 12, 2010
Last Update Posted Date July 18, 2018
Study Start Date September 2010
Estimated Primary Completion Date December 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 12, 2010)
Neuropsychological testing [ Time Frame: Annual by 5 years ]
Original Primary Outcome Measures
 (submitted: February 10, 2010)
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 ]
Change History Complete list of historical versions of study NCT01067742 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: February 10, 2014)
  • 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 Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title The Natural History of Mucolipidosis Type IV
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 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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
blood, urine and skin
Sampling Method Non-Probability Sample
Study Population Subjects previously identified with Mucolipidosis Type IV
Condition Mucolipidosis Type IV
Intervention Not Provided
Study Groups/Cohorts Subjects with Mucolipidosis Type IV
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 10, 2010)
35
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 2021
Estimated Primary Completion Date December 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

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:

-

Sex/Gender
Sexes Eligible for Study: All
Ages 1 Year to 64 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Mary Wallace 214-820-4533 mary.wallace@bswhealth.org
Contact: Caren Swift, RN BSN 214-820-4533 caren.swift@bswhealth.org
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01067742
Other Study ID Numbers 008-295
U54NS065768 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Baylor Research Institute
Study Sponsor Baylor Research Institute
Collaborators
  • Rare Diseases Clinical Research Network
  • National Center for Advancing Translational Science (NCATS)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Investigators Not Provided
PRS Account Baylor Research Institute
Verification Date July 2018