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Gene therapy offers hope for children with rare brain disease

NCT ID NCT01560182

Disease control Sponsor: Orchard Therapeutics Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested a gene therapy for children with metachromatic leukodystrophy (MLD), a rare, inherited brain disease that causes severe disability and early death. The treatment uses the child's own blood stem cells, which are modified in a lab to carry a working copy of the missing gene, then given back to the child. The goal was to slow or stop the disease from getting worse. Twenty children took part, and the results showed that the therapy could improve motor function and survival compared to untreated patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 1/2

Runs two stages together: safety and dose first, then whether the treatment works.

Participants

20 people

The number who actually took part.

Started

Apr 2010

Finished

Sep 2025

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Up to 7 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Pre-symptomatic MLD patients with the late infantile variant; * Pre- or early-symptomatic MLD patients with the early juvenile variant; * Patients for whom parental/guardian signed informed consent has been obtained. Exclusion Criteria: * HIV RNA and/or HCV RNA and/or HBV DNA positive patients; * Patients affected by neoplastic diseases; * Patients with cytogenetic alterations typical of MDS/AML; * Patients with end-organ functions or any other severe disease which, in the judgment of the investigator, would make the patient inappropriate for entry into this study; * Patients enrolled in other trials/other therapeutic approaches that might become available; * Patient who underwent allogeneic hematopoietic stem cell transplantation in the previous six months; * Patient who underwent allogenic hematopoietic stem cell transplantation with evidence of residual cells of donor origin.

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Conditions

The condition(s) this trial relates to.

lysosomal storage disease metachromatic leukodystrophy

As listed by the trial registrant

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

Lysosomal storage disease Metachromatic leukodystrophy

Contacts and locations

Locations

  • Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)

    Milan, 20132, Italy

More trials for these conditions

Other studies related to the condition(s) this trial covers.