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About
OTL-200 is autologous CD34+ cells transduced with lentiviral vector containing human arylsulfatase A (ARSA) complementary deoxyribonucleic acid (cDNA) used for the treatment of MLD. MLD is an autosomal recessive lysosomal storage disorder (LSD) characterized by severe and progressive demyelination affecting the central and peripheral nervous system. This study will assess safety and efficacy of treatment using cryopreserved formulation of OTL-200 in pediatric subjects with pre-symptomatic Early Onset MLD (Late Infantile (LI) to Early Juvenile (EJ) MLD) and early symptomatic EJ MLD.
Enrollment
Sex
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Volunteers
Inclusion criteria
Documented biochemical and molecular diagnosis of MLD, based on ARSA activity below the normal range and identification of two disease-causing ARSA alleles, either known or novel mutations. Novel mutations will be analyzed with in silico prediction tools and excluded from being known common polymorphisms. In the case of a novel mutation(s), a 24-hour urine collection must show elevated sulfatide levels.
Eligible subjects must have EITHER
Parental/guardian signed and dated informed consent.
Exclusion criteria
If LI MLD variant, clinical manifestations of the disease defined as EITHER of the following:
If EJ MLD variant, symptoms of MLD resulting in the loss of capacity of walking independently as defined by a GMFC level ≥2 or symptoms consistent with cognitive impairment as defined by an IQ<85 using age-appropriate neurocognitive instruments.
NOTE: The following will not be exclusionary if present alone:
Seizures
Signs of the disease revealed at instrumental evaluations (Electroneurography [ENG] and brain MR)
Primary purpose
Allocation
Interventional model
Masking
10 participants in 1 patient group
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Data sourced from clinicaltrials.gov
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