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The Natural History and Pathogenesis of Mucolipidosis Type IV

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00015782
Recruitment Status : Completed
First Posted : May 7, 2001
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

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.

Condition or disease
Mucolipidosis Type IV

Detailed Description:
The purpose of this protocol is to study patients with various neurometabolic disorders. Mucolipidosis type IV (ML-IV), is a developmental and degenerative disease caused by mutations in the MCOLN1 gene leading to an absent or dysfunctional protein called mucolipin. The goal of this protocol is to assess the neurological and medical status of these patients and characterize the clinical and laboratory abnormalities in order to determine the natural history of the disease. Patients will be followed at least yearly with comprehensive clinical, neurological and ophthalmological examinations combined with neuropsychological, blood, urine and radiological tests.

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Study Type : Observational
Enrollment : 30 participants
Official Title: The Natural History and Pathogenesis of Mucolipidosis Type IV
Study Start Date : April 27, 2001
Study Completion Date : March 3, 2008

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • INCLUSION CRITERIA: Mucolipidosis type IV

All patients with a definitive diagnosis of mucolipidosis type-IV will be considered as potential candidates for this study. Patients with compatible clinical history who need clinical or laboratory confirmation of ML-IV will be considered as well.

The general health and well being of each candidate must be sufficient to allow travel to the National Institutes of Health (NIH), modest amount of blood drawing, collection of appropriate urine samples, performance of necessary roentgenographic and magnetic resonance (MR) imaging studies and ophthalmological examinations under monitored sedation.

The patient must be able to return to the NIH at least once a year on a regular basis.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00015782

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Layout table for additonal information Identifier: NCT00015782    
Other Study ID Numbers: 010166
First Posted: May 7, 2001    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: March 3, 2008
Keywords provided by National Institutes of Health Clinical Center (CC):
Retinal Disease
Mucolipidosis Type IV
Additional relevant MeSH terms:
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Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases