Metachromatic Leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations
Conditions
Brief summary
Co-primary pharmacodynamic efficacy endpoints: •Change in ARSA activity levels in CSF from baseline to 24 months post treatment. •Change in neuronal metabolite ratio NAA: Cr in white matter regions of interest of the brain from baseline to 24 months post-treatment.
Detailed description
Change in CSF ARSA, Change in neuronal metabolite ratio, Change in ARSA in PBMC, CD14+ & CD15+, Engraftment, VCN in BM & PBMC, Change in severity scale for brain MRI asses, Change in neurocog function, Full NCE, Change in GMFC-MLD, Change in NCV, Conditioning related toxicity/AEs, Non-conditioning AEs, Hem.reconstitution, Incidence of inf. related reactions, Incidence & titers of ARSA antibodies, Abn.clonal proliferation, Absence of RCL, site analysis findings, ELFC-MLD, Add Brain MRI analyses
Interventions
Sponsors
Orchard Therapeutics (Europe) Limited
Eligibility
Sex/Gender
All
Age
0 Years to 17 Years
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Co-primary pharmacodynamic efficacy endpoints: •Change in ARSA activity levels in CSF from baseline to 24 months post treatment. •Change in neuronal metabolite ratio NAA: Cr in white matter regions of interest of the brain from baseline to 24 months post-treatment. | — |
Secondary
| Measure | Time frame |
|---|---|
| Change in CSF ARSA, Change in neuronal metabolite ratio, Change in ARSA in PBMC, CD14+ & CD15+, Engraftment, VCN in BM & PBMC, Change in severity scale for brain MRI asses, Change in neurocog function, Full NCE, Change in GMFC-MLD, Change in NCV, Conditioning related toxicity/AEs, Non-conditioning AEs, Hem.reconstitution, Incidence of inf. related reactions, Incidence & titers of ARSA antibodies, Abn.clonal proliferation, Absence of RCL, site analysis findings, ELFC-MLD, Add Brain MRI analyses | — |
Countries
Italy
Outcome results
None listed