The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV
About this trial
This is an observational trial for Mucolipidosis Type IV focused on measuring Metabolic, Genetic, Storage, Retinal Disease, Degenerative, Mucolipidosis Type IV, ML-IV
Eligibility Criteria
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.
Sites / Locations
- National Institutes of Health Clinical Center, 9000 Rockville Pike