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San Raffaele Gene Therapy

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new Video with Dr. Sevin (april 2013)

Intracerebral Gene Therapy Phase I/II Clinical Trial - Now Recruiting! (March 2013)

Inclusion criteria

Video with Dr. Caroline Sevin

Dr. Sevin is on of the researchers who developed this therapy and is a Principal Investigator in the trial. This French video was produced by ELA and is subtitled in English. See below for inclusion details and more details about the therapy itself.

Intracerebral Gene Therapy with HSCT Phase I/II Clinical Trial

An Intracerebral Gene Therapy Phase I/II Clinical Trial started recruiting in late March 2013. This protocol is based on the intracerebral injection of ARSA cDNA coding for Arylsulfatase A (ARSA) enzyme into the brain of patients.

This direct injection technique has been studied in other diseases and has show some efficacy. This intracerebral approach bypasses the blood brain barrier but is limited to 12 specific sites. This therapy depends on the diffusion of the genetically corrected cells and the enzyme produced by them to regions around the injection site.

The 3 hour procedure requires general anethesia while six very small (2mm) holes in the skull are used to access 12 sites to inject the vector.

Gene therapy is based on the principle that every illness caused by gene defect can be cured by inserting, through viral vectors, a functional copy of the gene in the sick cells of the patient.

Trial Center
The study will take place in Paris, France. Other sites are not anticipated for this phase of study. The study is open to international participants although EU health insurance will not cover the procedure's costs.

After this brief hospital stay the patients will be able to return home with follow-up visits to Paris for examination at month 1 and then every 3 months during the two-year study period.

We are confirming the time requirements for hospital stay (if any) immediately prior to and after the injections.

Recruiting Opened March 2013
Five patients with the late infantile form of MLD are being recruited for this two year study.

Inclusion Criteria

Late infantile MLD ages 6 to 48 months

1st symptoms observed less than one year ago

MRI severity score < 15 (i.e. early symptomatic)

if > 16 months need to be able to walk a few steps with one hand held

no other prior MLD therapies (transplant, ERT, etc.)

additional detailed inclusion and exclusion criteria can be found here

This is a Phase I/II clinical trial so the primary purpose is to assess safety of the therapy. A study of efficacy is the secondary goal of this study. Two different dosages of the vector will be studied.

More Details

We encourage you to contact us (email to: at MLD Foundation prior to reaching out to the trial PI's. We can help you to quickly assess eligibility and answer many of your questions. We are not gatekeepers or eligibility decision makers - but we do want the PI's to be able to focus on their work so we try to offload the first order questions from them.

Principal Investigators
Dr. Patrick Aubourg - Hôpital Saint Vincent de Paul Paris, FRANCE

Dr. Caroline Sevin - Hôpital Saint Vincent de Paul Paris, FRANCE
+33 (0)1 40 48 80 74


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