WithdrawnNot Applicable

The Natural History of Metachromatic Leukodystrophy

Stopped: Merged with a broader study of rare diseases once moved to Pittsburgh

0Started 2008-03-11

Plain-language 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 and neurophysiologic studies it becomes much easier to draw conclusions on the differential effects of the disease process and any available treatments that patients might receive. In addition, many of the gene mutations, which cause MLD have not been linked to the age of onset or the expected disease course.

Who can participate

Age range

6 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. The patient must have a confirmed diagnosis of MLD as defined by:
. 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 criteria

. Known multiple sulfatase deficiency

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Results of cognitive and motor testing

Timeframe: baseline, 6 months, 12 months and then yearly

Trial details

NCT IDNCT00639132

SponsorUniversity of Pittsburgh

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2022-01-30

View on ClinicalTrials.gov More Metachromatic Leukodystrophy trials