Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Pa… (NCT06948019) | Clinical Trial Compass
Not Yet RecruitingPhase 1/2
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
United States5 participantsStarted 2025-08
Plain-language summary
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
The goal of this clinical trial is to evaluate whether a gene therapy can safely treat children with SPG47, a rare genetic condition that causes progressive spasticity and developmental delays. The main questions it aims to answer are:
* Is the gene therapy safe and well tolerated?
* Does the gene therapy improve motor function and developmental outcomes?
Participants will:
* Undergo screening assessments to confirm eligibility
* Receive a single dose of the gene therapy vector
* Attend follow-up visits for safety monitoring and developmental assessments over the course of five years
Who can participate
Age range12 Months – 60 Months
SexALL
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Inclusion criteria
✓. Male and females between the ages of 12 months - 5 years at the time of treatment
✓. A molecularly confirmed diagnosis of SPG47 (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating bi-allelic pathogenic variants in the AP4B1 gene.
✓. Proband must have features of neurologic dysfunction by clinical history and physical examination.
✓. Stable doses of concomitant medications such as anti-spasticity medications, anti-epileptic 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 participant may be allowed per Investigator judgement.
✓. Proband must be fully vaccinated per Centers for Disease Control recommendations for childhood vaccinations.
✓. Two competent custodial parents/guardians with legal capacity (legally acceptable representatives) to execute an Institutional Review Board/Independent Ethics Committee (IRB/IEC) approved consent for medical research must be able to participate in the consent process. If only one parent has sole custody to consent for medical research, then 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 participant's symptoms and performance as described in the protocol.
What they're measuring
1
Incidence of unanticipated treatment-related toxicities, Grade 3 or higher in participants with SPG47
✓. Legally acceptable representatives agree not to post any of the participant's personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, Twitter, YouTube, etc.) until notified that the study is completed.
Exclusion criteria
✕. Inability to participate in the clinical evaluation as determined by the principal investigator.
✕. Clinically significant abnormal laboratory values (hemoglobin \< 8 or \> 20 g/dL; white blood cell \> 20,000 per cmm, platelets count \< 100,000 per cmm; international normalized ratio \[INR\] \> upper limit of normal \[ULN\]; gamma-glutamyl transferase \[GGT\], alanine aminotransferase \[ALT\], and aspartate aminotransferase \[AST\] or total bilirubin \> 1.5 × ULN, creatinine
✕. Presence of a concomitant medical condition that precludes a cisterna magna or lumbar puncture or use of anesthetics for sedated procedures.
✕. Bleeding disorder or any other medical condition or circumstance in which a cisterna magna or lumbar puncture is contraindicated according to local institutional policy.
✕. Documented cardiomyopathy or significant congenital heart abnormalities.
✕. Inability to be safely sedated in the opinion of the clinical anesthesiologist.
✕. History of severe/life-threatening allergic reaction to sirolimus, tacrolimus, corticosteroids, or gadolinium.
✕. Any known history and/or family history of hemophagocytic lymphohistiocytosis (HLH) or multisystem inflammatory syndrome (MIS)