FDA Clears BlackfinBio's Gene Therapy Trial for Rare Hereditary Spastic Paraplegia

• The US FDA has approved BlackfinBio's investigational new drug application for BFB-101, an adeno-associated virus gene therapy targeting hereditary spastic paraplegia type 47 (SPG47).
• The Phase I/II trial will enroll up to five children with AP4B1-associated SPG47 at Boston Children's Hospital, with recruitment expected to begin by year-end.
• BFB-101 will be administered via intra-cisterna magna injection to deliver the functional AP4B1 gene copy directly to the central nervous system.
• The therapy has received FDA orphan drug and rare pediatric disease designations for SPG47, a progressive condition causing lower-limb spasticity and developmental delays.

The US Food and Drug Administration has cleared BlackfinBio's investigational new drug (IND) application for a Phase I/II trial of BFB-101, an adeno-associated virus gene therapy designed to treat hereditary spastic paraplegia type 47 (SPG47). The approval marks a significant milestone for the Sheffield, UK-based clinical-stage gene therapy company's rare neurological disease program.

Trial Design and Patient Population

The open-label, single-centre trial will take place at Boston Children's Hospital, with recruitment anticipated to start by the end of this year. Up to five children with AP4B1-associated SPG47 will receive the treatment, representing a focused approach to evaluating this experimental therapy in a highly specific patient population.

The trial will primarily evaluate the safety and efficacy of BFB-101 when delivered via intra-cisterna magna (ICM) administration, which involves injecting the drug into the cerebrospinal fluid at the brainstem base near the spinal cord. This method of administration is intended to allow the therapy to be delivered rapidly to the central nervous system.

Therapeutic Approach and Disease Target

BFB-101 has received orphan drug and rare paediatric disease designations from the FDA for SPG47, a rare condition caused by mutations in the AP4B1 gene that results in progressive lower-limb spasticity and developmental delays in children. The gene therapy is tailored to deliver the AP4B1 gene's functional copy to halt or reverse the progression of the disease.

The trial's secondary objectives will include assessing the therapy's impact on motor function, development, and quality of life related to health, providing a comprehensive evaluation of potential therapeutic benefits beyond basic safety parameters.

Company Leadership and Development Background

BlackfinBio CEO and founder Peter Nolan emphasized the significance of the regulatory milestone: "The FDA's clearance of the BFB-101 IND is an important milestone for our rare neurological disease programme and the company. We look forward to initiating enrolment in the US later this year and are working closely with the investigator team at Boston Children's Hospital to evaluate the therapeutic utility of this gene therapy in children with SPG47."

The company's academic founder, Professor Mimoun Azzouz, developed BFB-101 with support from LifeArc and Cure AP-4, highlighting the collaborative nature of rare disease drug development that often involves academic institutions, patient advocacy organizations, and specialized funding bodies.