information: Treatment of the first patient
Announcement: treatment of the first patient
Company: Pfizer (USA - NY)
Product: PF-06939926 (mini-dystrophin) Recombinant adeno-associated virus serotype 9 vector expressing codon-optimized miniaturized version of DMD gene
- gene therapy. PF-06939926 is an investigational, recombinant, adeno-associated virus, serotype 9 (AAV9) carrying a truncated human dystrophin gene (mini-dystrophin) under the control of a human muscle specific promotor. This gene therapy has been developed by Bamboo Therapeutics, an Asklepios BioPharmaceutical's spin-out. Pfizer acquired the company in August 2016. Richard Jude Samulski, PhD, AskBio founder and Chief Scientific Officer,and Executive Chairman of Bamboo, remained with Pfizer through February 2018 to further accelerate the asset’s development.
- PF-06939926 was granted Orphan Drug and Pediatric Rare Disease Designations by the FDA and Orphan Medical Product Designation by the European Medicines Agency in May 2017.
Disease: Duchenne muscular dystrophy (DMD)
area: Rare diseases - Genetic diseases - Neuromuscular diseases
- The study is a first-in-human/first-in-patient, multi-center, open-label, non-randomized, ascending dose, safety and tolerability study of a single intravenous infusion of PF-06939926 in ambulatory subjects with Duchenne muscular dystrophy (DMD). Other objectives include measurement of dystrophin expression and distribution, and assessments of muscle strength, quality, and function.
- Two dose cohorts are planned with up to 6 subjects for each. In order to mitigate unanticipated risks to subject safety, enrollment will be staggered within and between the two cohorts and will include a formal review by an external data monitoring committee (E-DMC) prior to dose progression.
- • On April 12, 2018, Pfizer announced that the first boy received an infusion of the mini-dystrophin gene on March 22nd, administered under the supervision of principal investigator, Edward Smith, MD, Associate Professor of Pediatrics and Neurology at Duke University Medical Center. Screening and enrollment of patients is expected to continue at up to four clinical research sites in the United States. Early data from this trial are expected in the first half of 2019, once all patients have been evaluated for one full year post-treatment.
- The multi-center, open-label, non-randomized, ascending dose study of a single intravenous infusion of PF-06939926 will enroll approximately 12 ambulatory boys aged 5 to 12 years with DMD. In addition to evaluating safety and tolerability, the study will evaluate measurements of dystrophin expression and distribution, as well as assessments of muscle strength, quality and function. As part of the screening process, potential candidates for treatment will be tested to confirm a negative result for antibodies against the adeno-associated virus serotype 9 (AAV9) capsid and for a T-cell (immune) response to dystrophin.
- This clinical trial is Pfizer’s first recombinant AAV-based gene therapy program to enter the clinic stemming from Pfizer’s 2016 acquisition of Bamboo Therapeutics. Pfizer also made a recent $100 million expansion of its Sanford, North Carolina gene therapy commercial-scale manufacturing facility.
- • On December 5, 2017, a Phase Ib trial sponsored by Pfizer was published on the NIH website ClinicalTrials.gov for . The study is a multicenter, open-label, single ascending dose study to evaluate the safety and tolerability of PF-06939926 in ambulatory boys with Duchenne Muscular Dystrophy (DMD) and 5-12 years of age.