Metachromatic Leukodystrophy (MLD) - Healing Genes

Metachromatic Leukodystrophy (MLD)

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A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)

A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD)

Phase 2


Doctors at Ospedale San Raffaele – Telethon Institute for Gene Therapy in Milan, Italy, are recruiting a small number of pediatric patients with Metachromatic Leukodystrophy (MLD) to trial a genetic therapy intended to impart the genetic sequence for human arylsulfatase A (ARSA). The study directors hope this will improve gross motor function and neurological development.

The treatment involves recovery of the patient’s own CD4+ immune cells, which are then genetically modified in the lab to add the gene lacking in MLD patients. Then, after conditioning chemotherapy, the immune cells are returned to the patient in a single IV infusion. Follow up will continue for 8 years.


  • 0 to 6 years of age
  • Have a confirmed diagnosis of MLD, including genetic testing and blood chemistry screenings
  • Willing to travel to the study site in Italy for participation


  1. Prescreening to confirm eligibility of the patient to participate.
  2. Blood draw to recover CD4+ immune cells for lab modification.
  3. Chemotherapy round to prepare room for new immune cells.
  4. Intravenous infusion of the patients’ own immune cells.
  5. Changes in Gross Motor Function Measure (GMFM) score will be measured at 2 years post the gene therapy and for multiple visits for up to 8 years that may include neurological assessments, IQ testing and brain MRIs.


Ospedale San Raffaele – Telethon Institute for Gene Therapy (OSR-TIGET) in Milan, Italy is conducting the study. Map.

Contact: Alessandro Aiuti  |  +39 0226434472  |  [email protected]

Contact: Orchard Medical Information  |  +44 (0) 20 3808 8286  |  [email protected]

Contact: Orchard Clinical Trials  |  [email protected]



Orchard Therapeutics

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


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