The Natural History and Pathogenesis of Mucolipidosis Type IV

June 30, 2017 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

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General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
April 27, 2001

Study Completion

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
March 3, 2008

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
May 4, 2001

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 4, 2001

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
May 7, 2001

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 2, 2017

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 30, 2017

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
March 3, 2008

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 010166
  • 01-N-0166

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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