BridgeMD
A Phase IIb, Non-Profit, Open-label Trial for the Intrathecal Administration of AAV9/AP4M1 for Hereditary Spastic Paraplegia Type 50 (SPG50)
EU CTIS ID: 2025-524481-15-00
What this study is testing
The primary objective of this study is to demonstrate the efficacy of a single lumbar intrathecal ad-ministration of AAV9/AP4M1 in subjects with 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 screen-ing.
- • Molecularly confirmed diagnosis of SPG50, defined as bi-allelic pathogenic variants in the AP4M1 gene, as deter-mined 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 histo-ry and physical examination
- • Stable dosing of concomitant medications – including anti-spasticity medications, anti-epileptic medications, behav-ioral 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 in-formed 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 deter-mined by the Principal Investigators.
- • Any condition that would contraindicate MRI, per local insti-tutional 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 scien-tific rigor or interpretation of study results.
- • Laboratory abnormalities deemed potentially clinically sig-nificant.
- • Recent or planned elective surgical procedures that could confound the scientific rigor or interpretation of study re-sults.
See the full eligibility criteria
Who can join
- • Male or female subjects aged ≥ 6 years at the time of screen-ing.
- • Molecularly confirmed diagnosis of SPG50, defined as bi-allelic pathogenic variants in the AP4M1 gene, as deter-mined 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 histo-ry and physical examination
- • Stable dosing of concomitant medications – including anti-spasticity medications, anti-epileptic medications, behav-ioral 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 in-formed 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 the 30 days post treatment, subjects must reside within 200 km of the clinical site.
What rules you out
- • Inability to participate in the clinical evaluation, as deter-mined by the Principal Investigators.
- • Any condition that would contraindicate MRI, per local insti-tutional 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 scien-tific rigor or interpretation of study results.
- • Laboratory abnormalities deemed potentially clinically sig-nificant.
- • Recent or planned elective surgical procedures that could confound the scientific rigor or interpretation of study re-sults.
- • Failure to obtain valid informed consent.
- • Reason to believe that the subject or the parents of the sub-ject 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 clini-cal trial 90 days before the first visit.
- • Clinically significant abnormal laboratory values (i.e., hemo-globin < 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 circum-stance in which lumbar puncture is contraindicated, per lo-cal institutional policy.
- • Documented cardiomyopathy or significant congenital heart abnormalities.
- • Inability to undergo sedation safely, in the opinion of the clin-ical anesthesiologist.
- • History of severe or life-threatening allergic reactions to sirolimus, tacrolimus, corticosteroids, or gadolinium.
- • Concomitant illness or requirement for chronic drug treat-ment that, in the opinion of the Principal Investigator, poses undue risk during gene transfer.
- • Concomitant chronic drug treatment that would cause clini-cally 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. 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.