MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss. Outcomes will evaluate the safety and tolerability of a single dose of MELPIDA, which will be measured by the treatment-associated adverse events (AEs) and serious adverse events (SAEs). Secondarily, the trial will explore efficacy in terms of disease burden assessments.
Age 4 months-10 years old
Genomic DNA mutation analysis demonstrating homozygous or compound heterozygous, confirmed pathogenic variants in the AP4M1 gene
Clinical history or examination features consistent with SPG50 and that include neurologic dysfunction
Parent/legal guardian willing to provide written informed consent for their child prior to participation in the study
Inability to participate in study procedures (as determined by the site investigator)
Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics
History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy
Inability to be safely sedated in the opinion of the clinical anesthesiologist
Single group
MELPIDA
Biological/VaccineMELPIDA, a recombinant serotype 9 adeno-associated virus (AAV) encoding a codon-optimized human AP4M1 transgene
Incidence of unanticipated treatment-related toxicities, Grade 3 or higher in participants with SPG50
Incidence of unanticipated treatment-related toxicities, Grade 3 or higher, in participants with SPG50 will be determined from the collection of occurrence and severity of serious adverse events (SAEs). Adverse events will be determined according to Common Terminology Criteria for Adverse Events (CTCAE) Version 5.0.
Stability or improvement in spasticity in participants with SPG50 as measured by the Modified Ashworth scale (MAS)
Stability or improvement in spasticity in participants with SPG50 is measured by the Modified Ashworth scale (MAS) which is a muscle tone assessment scale used to assess the resistance experienced during passive range of motion. Possible scores range from 0-4 where lower scores indicate better outcome.
Stability or improvement in spasticity in participants with SPG50 as measured by the Tardieu scale
Stability or improvement in spasticity in participants with SPG50 is measured by the Tardieu scale which quantifies muscle spasticity by assessing the response of the muscle to stretch applied at specified velocities. Possible scores range from 0-5 where lower scores indicate better outcome.
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Elpida Therapeutics SPC
Lead sponsor
University of Texas Southwestern Medical Center
Collaborator
