Clinical trial NCT01067742: The Natural History of Mucolipidosis Type IV
Official title: The Natural History of Mucolipidosis Type IV
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Mucolipidosis Type IV
Keywords: Mucolipidosis, retinal dystrophy, mucolipin-1,
lysosomal storage disease, gastrin, mental retardation,
dysmyelination, dysplastic corpus callosum,corneal clouding
Lead sponsor: Baylor Research Institute
Sponsor class: OTHER
Collaborators: name: Rare Diseases Clinical Research Network
name: National Center for Advancing Translational Sciences (NCATS)
name: National Institute of Neurological Disorders and Stroke (NINDS)
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2010-02-12
Enrollment: 35
Sex: ALL
Minimum age (years): 1
Maximum age (years): 64
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects previously identified with 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.

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:

-

Primary outcomes:
measure: Neuropsychological testing
timeFrame: Annual by 5 years
Secondary outcomes:
measure: Blood tests
timeFrame: Annual by 5 years
measure: Urine tests
timeFrame: Annual by 5 years
measure: MRI of the brain
timeFrame: Annual by 5 years
measure: Rehabilitation evaluation
timeFrame: Annual by 5 years
measure: Nutritional status evaluation
timeFrame: Annual by 5 years
measure: Skin biopsy
timeFrame: 1 year only
Other outcomes:
Locations:
city: Dallas
country: United States
facility: Baylor Institute of Metabolic Disease
state: Texas
Study officials:
References:
citation: 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.