Experimental enzyme therapy tested in rare brain disease after transplant

NCT ID NCT01303146

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study tested an experimental drug called METAZYM (a lab-made enzyme) in one child with late infantile metachromatic leukodystrophy (MLD) who had already received a stem cell transplant. The goal was to see if the enzyme could improve nerve function and reduce harmful buildup in the body. The child received infusions every two weeks for 18 months, with regular checkups on nerve speed, motor skills, and safety.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance

METAZYM (recombinant human arylsulfatase A, also called rhASA)

What this could lead to

If it works, this could point toward a way to slow nerve damage in children with MLD who have already had a stem cell transplant.

What could go wrong

This is a very early, single-patient study, so results may not apply to others. The treatment may not stop the disease from getting worse.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

metachromatic leukodystrophy metachromatic leukodystrophy, late infantile form

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Department of Pediatric Endocrinology and Neurology, Saint Vincent de Paul Hospital

    Paris, 75014, France