Upcoming FDA Decisions for Rare Diseases in 2023


CGTLive takes a look at some upcoming FDA decisions for Rare Disease Day.

Tuesday, February 28, 2023, is Rare Disease Day, recognizing the more than 300 million people worldwide affected by one of more than 7000 conditions designated as rare diseases. The development of gene and cell therapies for rare diseases such as Pompe disease, muscular dystrophies, Danon disease, and more, continues to grow, with some therapies now approved for these indiciations and others coming up for approval soon. CGTLive is taking a look at some of the upcoming FDA decisions on selected gene and cell therapies for rare diseases.

1. Val-rox for Hemophilia A: PDUFA Date March 31, 2023

BioMarin resubmitted a biologics license application (BLA) for its gene therapy valoctocogene roxaparvovec, to be marketed as Roctavian, that was accepted in October 2022. The resubmitted BLA includes additional follow-up, durability, and safety data from the phase 3 GENEr8-1 study (NCT03370913). The study recently showcased data that continued to meet the primary and secondary endpoints for up to 4 years, including significant effects on annualized bleeding rate (ABR) and factor VIII (FVIII) usage.

2. B-VEC for Recessive Dystrophic Epidermolysis Bullosa: PDUFA Date May 19, 2023

Krystal Biotech’s BLA for beremagenegeperpavec (B-VEC) gene therapy was accepted for priority review in August 2022 and later postponed to May 2023 after new manufacturing process information was considered a major amendment to the BLA. The BLA is supported by data from the phase 2 GEM-1/2 (NCT03536143) study and the phase 3 GEM-3 study (NCT04491604) in which treated patients experienced improvements in wound healing.

3. SRP-9001 for Duchenne Muscular Dystrophy: PDUFA Date May 29, 2023

Sarepta submitted the BLA for SRP-9001, also known as delandistrogene moxeparvovec, in September 2022. The therapy yielded clinical improvements and biomarker expression in patients with DMD in the phase 1/2 Study SRP-9001-101 (NCT03375164), the phase 2 SRP-9001-102 study (NCT03769116), and the phase 1 ENDEAVOR study (SRP-9001-103; NCT04626674), and is now being evaluated in the phase 3 EMBARK study.

4. Remestemcel-L for Pediatric Graft-versus-host Disease

Four years after the company first initiated a rolling BLA, Mesoblast has resubmitted the BLA for remestemcel-L that includes additional data from a phase 3 trial (NCT02336230). The most recent data has demonstrated the long-term survival benefit in children treated with remestemcel-L through 4 years.

5. Exa-cel for Sickle Cell Disease and TDT

Vertex Pharmaceuticals and CRISPR Therapeutics are submitting BLAs for exagamglogene autotemcel (exa-cel) for rolling review for the treatments of sickle cell disease (SCD) and transfusion-dependent beta thalassemia. Exa-cel is being investigated in the ongoing phase 1/2/3 open-label CLIMB-111 and CLIMB-121 trials for SCD and TDT, the long-term CLIMB-131 study, and the ongoing, phase 3, open-label CLIMB-141 and CLIMB-151 trials which are currently enrolling participants.

6. Afami-cel for Synovial Sarcoma

In a race to get the first cell therapy for solid tumors approved in the field, Adaptimmune plans to complete its rolling BLA submission for afamitresgene autoleucel (afami-cel) in mid-2023 for priority review. Afami-cel is a T-cell receptor T-cell therapy that has demonstrated a clinical benefit in this population in the phase 2 SPEARHEAD-1 study (NCT04044768), in which patients with synovial sarcoma had a 38.6% overall response rate.

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