The Natural History and Pathogenesis of Mucolipidosis Type IV

Plain-language summary

This study investigates the natural history over time and the disease mechanism (pathogenesis) of Mucolipidosis Type IV. It included patients with a definitive diagnosis or who needed diagnostic confirmation. It is an observational (non-phase) study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Start date

4/27/2001

Estimated completion

3/3/2008

Countries

United States

Related genes

Locations

• Bethesda, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

* 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.