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Administration of a new gene therapy to patients affected by Hereditary Spastic Paraplegia Type 50 (SPG50)
EU CTIS ID: 2025-522603-15-00
What this study is testing
To determine the efficacy of a single lumbar intrathecal administration of AAV9/AP4M1 on subjects affected by SPG50
- Therapeutic exploratory (Phase II)
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
- Male or female subjects aged ≥ 6 years at the time of screening
- Molecularly confirmed diagnosis of SPG50, defined as bi-allelic pathogenic variants in the AP4M1 gene, as determined by genomic DNA mutation analysis performed in a CLIA-certified, CE-marked, or equivalent laboratory.
- Ability to sit independently for three seconds (corresponding to item 24 of the Gross Motor Function Measure GMFM-88).
- Evidence of neurological dysfunction based on clinical history and physical examination.
- Stable dosing of concomitant medications – including anti-spasticity medications, anti-epileptic medications, behavioral management medications, sleep medications, and special diets, supplements or nutritional support – for at least three months prior to screening. Subjects with recent changes in medications (<3 months) may be included at the Investigator’s discretion.
- Availability of two legally competent custodial parents or legally acceptable representatives capable of providing informed consent as approved by the EC. In cases where only one parent has sole legal authority to consent, that parent must be able to actively participate in the consent process.
You likely can't join if
- Inability to participate in the clinical evaluation, as determined by the Principal Investigators.
- Any condition that would contraindicate MRI, per local institutional policy.
- Any other condition that would preclude the subject from undergoing required study procedures.
- Presence of significant AP-4-related CNS impairment or behavioral disturbances that would compromise the scientific rigor or interpretation of study results.
- Laboratory abnormalities deemed potentially clinically significant.
- Recent or planned elective surgical procedures that could confound the scientific rigor or interpretation of study results.
See the full eligibility criteria
Who can join
- Male or female subjects aged ≥ 6 years at the time of screening
- Molecularly confirmed diagnosis of SPG50, defined as bi-allelic pathogenic variants in the AP4M1 gene, as determined by genomic DNA mutation analysis performed in a CLIA-certified, CE-marked, or equivalent laboratory.
- Ability to sit independently for three seconds (corresponding to item 24 of the Gross Motor Function Measure GMFM-88).
- Evidence of neurological dysfunction based on clinical history and physical examination.
- Stable dosing of concomitant medications – including anti-spasticity medications, anti-epileptic medications, behavioral management medications, sleep medications, and special diets, supplements or nutritional support – for at least three months prior to screening. Subjects with recent changes in medications (<3 months) may be included at the Investigator’s discretion.
- Availability of two legally competent custodial parents or legally acceptable representatives capable of providing informed consent as approved by the EC. In cases where only one parent has sole legal authority to consent, that parent must be able to actively participate in the consent process.
- Legally acceptable representatives must be able to attend all scheduled study visits and provide feedback regarding the subject’s symptoms and performance as described in the protocol.
- Subjects and caregivers must demonstrate ability to travel to the study center. For safety reasons, during the 30 days following treatment, subjects must domiciled at a location that allows them to reach the clinical site within approximately 90 minutes. As a practical reference, this corresponds to a maximum distance of about 150 km from the site.
- Any sexually active male or female subject must be willing to use highly effective contraceptive methods for the full 5 years of the study and use a barrier method of contraception for 6 months post dosing, regardless of any other contraceptive method or sexual orientation.
What rules you out
- Inability to participate in the clinical evaluation, as determined by the Principal Investigators.
- Any condition that would contraindicate MRI, per local institutional policy.
- Any other condition that would preclude the subject from undergoing required study procedures.
- Presence of significant AP-4-related CNS impairment or behavioral disturbances that would compromise the scientific rigor or interpretation of study results.
- Laboratory abnormalities deemed potentially clinically significant.
- Recent or planned elective surgical procedures that could confound the scientific rigor or interpretation of study results.
- Failure to obtain valid informed consent.
- Reason to believe that the subject or the parents of the subject will not comply with the procedures outlined in the study protocol.
- Receipt of an investigational drug within 30 days prior to screening or plans to receive an investigational drug (other than gene therapy) during the study period.
- Enrollment and participation in another interventional clinical trial 90 days before the first visit.
- Clinically significant abnormal laboratory values (i.e., 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.
- Presence of a concomitant medical condition that precludes lumbar puncture or administration of anesthetic agents for procedures under deep sedation.
- Bleeding disorders or any other medical condition or circumstance in which lumbar puncture is contraindicated, per local institutional policy.
- Documented cardiomyopathy or significant congenital heart abnormalities.
- Inability to undergo sedation safely, in the opinion of the clinical anesthesiologist.
- History of severe or life-threatening allergic reactions to sirolimus, tacrolimus, corticosteroids, or gadolinium.
- Concomitant illness or requirement for chronic drug treatment that, in the opinion of the Principal Investigator, poses undue risk during gene transfer.
- Concomitant chronic drug treatment that would cause clinically significant interactions with study immunosuppressive agents.
The study team makes the final eligibility decision.
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, 18-64 years. The study team makes the final eligibility decision.
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.