One-Time gene therapy aims to halt fatal brain disease in children

NCT ID NCT02716246

First seen Jun 25, 2026 · Last updated Jul 17, 2026 · Updated 2 times

Summary

This trial tests a one-time gene therapy called UX111 for children with Sanfilippo A, a rare genetic disorder that causes severe brain damage. The therapy delivers a working copy of the missing gene to cells. Researchers will measure whether it reduces harmful substances in the brain and improves development. The study is currently recruiting 36 participants.

What this could mean

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

Active substance
UX111 (a gene therapy that delivers a working copy of the SGSH gene into cells)
What this could lead to
If it works, this could slow or stop the progression of Sanfilippo A, a severe genetic brain disease, potentially allowing children to live longer with better function.
What could go wrong
This is an early-to-mid-stage trial with only 36 participants. Gene therapy carries risks like immune reactions or the treatment not reaching enough cells. Lifelong monitoring is needed.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • Children's Hospital of Pittsburgh

    COMPLETED

    Pittsburgh, Pennsylvania, 15224, United States

  • Hospital Clínico Universitario de Santiago

    RECRUITING

    Santiago de Compostela, 15706, Spain

  • Nationwide Children's Hospital

    COMPLETED

    Columbus, Ohio, 43205, United States

  • Vall d'Hebron Barcelona Hospital Campus

    RECRUITING

    Barcelona, Barcelona, 08035, Spain

  • Women's and Children's Hospital

    COMPLETED

    North Adelaide, South Australia, 5006, Australia

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