Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)

ConditionsHSP Hereditary Spastic Paraplegia Hereditary Spastic Paraparesis Hereditary Spastic Paraplegia Type 50 Hereditary Spastic Paraplegia Type 47 Hereditary Spastic Paraplegia Type 51 Hereditary Spastic Paraplegia Type 52 SPG47 AP4B1 Neurogenetic Disorders Neurodevelopmental Conditions Movement Disorders Gene Therapy

Trial statusNot yet recruiting

Trial phasePhase 1, Phase 2

Trial typeInterventional

Biological sexAll

Age12-60

SponsorBlackfinBio Ltd

About this trial

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

Eligibility criteria

Qualifiers

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.

Disqualifiers

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.

Trial design

Treatments tested in this trial

BFB-101 (AAV9-CBh-AP4B1)

Treatment groups

5 Participants

are divided into 1 treatment group

Sponsors and collaborators

BlackfinBio Ltd

Lead sponsor

Boston Children's Hospital

Collaborator

Source ClinicalTrials.gov