Status:
WITHDRAWN
The Natural History of Metachromatic Leukodystrophy
Lead Sponsor:
University of Pittsburgh
Conditions:
Metachromatic Leukodystrophy
Eligibility:
All Genders
Up to 6 years
Brief Summary
There have not been longitudinal studies which track patients' neurologically or developmentally in a systematic manner. By simultaneously tracking patients' neurodevelopment along with neuroimaging a...
Detailed Description
Metachromatic leukodystrophy (MLD), an autosomal recessively inherited lysosomal storage disorder, causes a deficiency of arylsulfatase A. This results in accumulation of sulfated glycolipids (sulphat...
Eligibility Criteria
Inclusion
- The patient must have a confirmed diagnosis of MLD as defined by:
- ASA activity \< 10 nmol/h/mg in leukocytes
- Presence of elevated sulfatide in urine
- The patient must have voluntary function (as judged by the investigator), including cognitive and motor function that is no more than 3 standard deviations below normal at the time of enrollment.
- The patient must have an age at the time of screening birth to \< 6 years
- The patient must have had onset of symptoms before the age of 4 years
- The subject and his/her guardian(s) must have the ability to comply with the clinical protocol
Exclusion
- Known multiple sulfatase deficiency
- Presence of major congenital abnormality
- Presence of known chromosomal abnormality and other neurological conditions unrelated to MLD that can affect psychomotor development
- History of hematopoietic stem cell transplantation
- Presence of known clinically significant cardiovascular, hepatic, pulmonary or renal disease or other medical condition
- Any other medical condition or serious intercurrent illness, or extenuating circumstance that, in the opinion of the principal investigator, would preclude participation in the trial
- Use of any investigational product within 30 days prior to study enrollment or currently enrolled in another study which involves clinical investigations.
- The patient's parent(s) and/or legal guardian is unable to understand the nature, scope, and possible consequences of the study.
- Patient is unable to comply with the protocol, i.e. inability to return for follow-up evaluations or otherwise unlikely to complete the study as determined by the principal investigator.
Key Trial Info
Start Date :
March 11 2008
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 1 2022
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT00639132
Start Date
March 11 2008
End Date
February 1 2022
Last Update
May 30 2024
Active Locations (0)
Enter a location and click search to find clinical trials sorted by distance.
No Results Found
We couldn’t find results for the location/zipcode entered or within the selected range. Please check your input or adjust your search.