NCT00015782

The Natural History and Pathogenesis of Mucolipidosis Type IV

Completed Last updated 2 July 2017

What this trial tests

trial in Mucolipidosis Type IV in 30 participants. Completed in 3 March 2008.

Timeline

27 April 2001

3 March 2008

Quick facts

Lead sponsor	National Institute of Neurological Disorders and Stroke (NINDS)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	30
Start date	27 April 2001
Estimated completion	3 March 2008
Sites	1 location across United States

Conditions studied

• Mucolipidosis Type IV — all drugs for Mucolipidosis Type IV →

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Who can join

Eligibility, any sex, with Mucolipidosis Type IV. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and the eyes. The disease is caused by a defect in a gene that makes a protein called mucolipin. Patients with ML-IV do not make enough normal mucolipin.

More than 80 patients have been diagnosed, most of whom are Ashkenazi Jews. The disease often appears in the first year of life as either delayed motor development or corneal clouding. There are conflicting reports concerning the progressive nature of the disease. Some patients have clear deterioration, while others seem to stay at the same level of the disease for a long time. This study may lead to a better understanding of the disease, the medical difficulties of patients, and better ways of diagnosing ML-IV.

Patients with a definite diagnosis of this disease, as well as those patients who need confirmation of the disease, are candidates for this study. Patients will be admitted annually to the Clinical Center for a maximum of five days. A history will be taken and a physical exam done. Blood and urine tests will be done along with brain wave recording, complete eye examination, psychological tests, and speech and language and rehabilitation evaluations. A maximum of 3 mL/kg of blood will be drawn from children and a total of 60 mL from adults. Various eye tests will also be done, some under sedation. DNA will be extracted for possible use in other studies. A skin biopsy will be taken on the first visit.

There is a possibility of improved medical management and rehabilitative treatment as a result of participating in this study.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Quantitative neuroimaging in mucolipidosis type IV.
   Schiffmann R, Mayfield J, Swift C, Nestrasil I. · · 2014 · cited 23× · PMID 24332805 · DOI 10.1016/j.ymgme.2013.11.007
2. Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV.
   Mepyans M, Andrzejczuk L, Sosa J, Smith S, et al · · 2020 · cited 11× · PMID 32586947 · DOI 10.1242/dmm.044230