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Phase 3 efficacy study with concurrent control of IT MELPIDA in SPG50.
EU CTIS ID: 2025-524576-28-00
What this study is testing
To determine the safety and efficacy of MELPIDA in subjects with SPG50.
- Therapeutic confirmatory (Phase III)
A plain-language read of the study's public EU CTIS listing. The study team confirms the details.
Who can take part
You may be able to join if
- For the treatment group. Male and females between the ages of 4 months to 72 months at the time of screening.
- For the control group. Parent/legal guardians willing to provide written informed consent for their child prior to participation in the study.
- For the control group. Subject able to comply with all protocol requirements and procedures.
- For the control group. Subjects and caregivers must demonstrate the ability to travel to the study center.
- For the treatment group. Molecularly-confirmed diagnosis of SPG50 (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating bi-allelic pathogenic variants or likely pathogenic in the AP4M1 gene.
- For the treatment group. Subjects must have features of neurologic dysfunction by clinical history and physical examination.
You likely can't join if
- For the treatment group. Loss of one of the 8 major motor milestones within the last 12 months. Milestones defined as: o #24: Sit on mat: Maintain, arms free, 3 seconds o #44: 4 Point: Crawls or hitches forward 1.8m (6’) o #53: Standing: Maintains, arms free, 3 seconds o #67: Standing: 2 hands held: walks forward 10 steps o #69: Standing: Walks forward 10 steps o #84: Standing: Holding 1 rail: walks up 4 steps, holding 1 rail, alternating feet o #85: Standing: Holding 1 rail: walks down 4 steps, holding 1 rail, alternating feet o #88: Standing on 15cm (6”) step: Jumps off, both feet simultaneously
- For the treatment group. Recent or planned elective surgical procedures (within 6 months) that would confound the scientific rigor or interpretation of results of the study.
- For the treatment group. Failure to obtain appropriate informed consent.
- For the treatment group. Reason to believe that the subject or parents of the subject will not comply with the study procedures outlined in the study protocol.
- For the treatment group. Have received an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.
- For the treatment group. Enrollment and participation in another interventional clinical trial 90 days before first visit (screening).
See the full eligibility criteria
Who can join
- For the treatment group. Male and females between the ages of 4 months to 72 months at the time of screening.
- For the control group. Parent/legal guardians willing to provide written informed consent for their child prior to participation in the study.
- For the control group. Subject able to comply with all protocol requirements and procedures.
- For the control group. Subjects and caregivers must demonstrate the ability to travel to the study center.
- For the treatment group. Molecularly-confirmed diagnosis of SPG50 (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating bi-allelic pathogenic variants or likely pathogenic in the AP4M1 gene.
- For the treatment group. Subjects must have features of neurologic dysfunction by clinical history and physical examination.
- For the treatment group. Stable doses of concomitant medications such as anti-spasticity medications, anti-seizure medications, behavioral management medications, sleep medications, and special diets, supplements, or nutritional support for at least 3 months prior to Screening. If recent changes (< 3 months) in medications, the subject may be allowed per Investigator judgement.
- For the treatment group. Parent/legal guardian willing to provide written informed consent for their child prior to participation in the study
- For the treatment group. Subjects and caregivers must demonstrate the ability to travel to the study center. For the 30 days post treatment subjects must reside within 100 miles (approximately 160 km) of the clinical site.
- For the control group. Male and females between the ages of 4 to 72 months at the time of screening.
- For the control group. A molecularly confirmed diagnosis of SPG47, SPG50 or SPG52 (confirmed by a CLIA certified, CE-marked, or equivalent lab). Genomic DNA mutation analysis demonstrating bi-allelic pathogenic or likely pathogenic variants in the AP4B1, AP4M1, or AP4S1 gene
- For the control group. Subjects must have features of neurologic dysfunction by clinical history and physical examination.
What rules you out
- For the treatment group. Loss of one of the 8 major motor milestones within the last 12 months. Milestones defined as: o #24: Sit on mat: Maintain, arms free, 3 seconds o #44: 4 Point: Crawls or hitches forward 1.8m (6’) o #53: Standing: Maintains, arms free, 3 seconds o #67: Standing: 2 hands held: walks forward 10 steps o #69: Standing: Walks forward 10 steps o #84: Standing: Holding 1 rail: walks up 4 steps, holding 1 rail, alternating feet o #85: Standing: Holding 1 rail: walks down 4 steps, holding 1 rail, alternating feet o #88: Standing on 15cm (6”) step: Jumps off, both feet simultaneously
- For the treatment group. Recent or planned elective surgical procedures (within 6 months) that would confound the scientific rigor or interpretation of results of the study.
- For the treatment group. Failure to obtain appropriate informed consent.
- For the treatment group. Reason to believe that the subject or parents of the subject will not comply with the study procedures outlined in the study protocol.
- For the treatment group. Have received an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.
- For the treatment group. Enrollment and participation in another interventional clinical trial 90 days before first visit (screening).
- For the control group. Loss of one of the 8 major motor milestones within the last 12 months. Milestones defined as: o #24: Sit on mat: Maintain, arms free, 3 seconds o #44: 4 Point: Crawls or hitches forward 1.8m (6’) o #53: Standing: Maintains, arms free, 3 seconds o #67: Standing: 2 hands held: walks forward 10 steps o #69: Standing: Walks forward 10 steps o #84: Standing: Holding 1 rail: walks up 4 steps, holding 1 rail, alternating feet o #85: Standing: Holding 1 rail: walks down 4 steps, holding 1 rail, alternating feet o #88: Standing on 15cm (6”) step: Jumps off, both feet simultaneously.
- For the control group. Inability to participate in the clinical evaluation as determined by the principal investigators.
- For the control group. Any other situation that would exclude the subject from undergoing any other procedure required in this study
- For the control group. The presence of significant AP-4 related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study.
- For the control group. Recent or planned elective surgical procedures that would confound the scientific rigor or interpretation of results of the study.
- For the treatment group. Inability to participate in the clinical evaluation as determined by the principal investigators.
- For the control group. Failure to obtain appropriate informed consent.
- For the control group. Reason to believe that the subject or parents of the subject will not comply with the study procedures outlined in the study protocol.
- For the control group. Have received an investigational drug within 30 days prior to screening or plans to receive an investigational drug (other than gene therapy) during the study.
- For the control group. Enrollment and participation in another interventional clinical trial 90 days before first visit (screening).
- For the treatment group. Clinically significant abnormal laboratory values (hemoglobin < 6 or > 20 g/dL; white blood cell > 20,000 per cmm, platelets count < 100,000 per cmm; INR > ULN; GGT, ALT, and AST or total bilirubin > 1.5 × ULN, creatinine ≥ 1.5 mg/dL) prior to gene replacement therapy.
- For the treatment group. Presence of a concomitant medical condition (eg, scoliosis or bleeding disorder) that precludes a lumbar puncture or use of anesthetics for sedated procedures.
- For the treatment group. Documented cardiomyopathy or significant congenital heart abnormalities.
- For the treatment group. History of severe/life-threatening allergic reaction to sirolimus, tacrolimus, corticosteroids, or gadolinium.
- For the treatment group. Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer, or interactions with the immunosuppressive agents.
- For the treatment group. Any item which would exclude the subject from being able to undergo MRI according to local institutional policy, or any other procedure.
- For the treatment group. The presence of significant AP-4 related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study.
The study team makes the final eligibility decision.
Where it's taking place
- United States
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 0-17 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include United States. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.