NCT01560182

Gene Therapy for Metachromatic Leukodystrophy (MLD)

A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Treatment of Metachromatic Leukodystrophy

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 20 (actual)
• Sponsor: Orchard Therapeutics · Industry
• Sex: All
• Age: 7 Years
• Healthy volunteers: Not accepted

Summary

This Phase I/II clinical trial consists of the application of lentiviral vector-based gene therapy to patients affected by Metachromatic Leukodystrophy (MLD), a rare inherited Lysosomal Storage Disorder (LSD) resulting from mutations in the gene encoding the Arylsulfatase A (ARSA) enzyme. The medicinal product consists of autologous CD34+ hematopoietic stem/progenitor cells in which a functional ARSA cDNA is introduced by means of 3rd generation VSV-G pseudotyped lentiviral vectors.

Conditions

• Lysosomal Storage Disease
• Metachromatic Leukodystrophy

Interventions

Type	Name	Description
GENETIC	OTL-200 Gene Therapy	Autologous hematopoietic stem/progenitor cells collected from the bone marrow and transduced ex vivo with a Lentiviral vector encoding the human ARSA cDNA

Timeline

• Start date: 2010-04-09
• Primary completion: 2018-04-09
• Completion: 2025-09-19
• First posted: 2012-03-22
• Last updated: 2025-12-05

Locations

1 site across 1 country: Italy