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Affinia Therapeutics Raises $40M Series C to Advance First-in-Class Gene Therapy for BAG3 Dilated Cardiomyopathy

Rare Disease
  • Affinia Therapeutics closed a $40 million Series C financing led by New Enterprise Associates with participation from Eli Lilly & Company to advance its gene therapy pipeline.
  • The funding will support AFTX-201, a potential first-in-class genetic medicine for BAG3 dilated cardiomyopathy, with IND submission planned for Q4 2025 and Phase 1/2 trial initiation in Q1 2026.
  • BAG3 dilated cardiomyopathy affects more than 70,000 patients across the U.S., Europe, and U.K., with nearly 25% requiring heart transplants despite current standard of care.
  • Preclinical studies demonstrated AFTX-201 completely restored cardiac function in animal models using Affinia's novel cardiotropic capsid technology engineered for selective cardiac transduction.

Immusoft Achieves First-Ever Safe Re-dosing of Gene Therapy Patient with ISP-001 for MPS I

Rare Disease
  • Immusoft successfully re-dosed a patient with ISP-001 after 18 months, marking a historic breakthrough in gene therapy's ability to safely administer multiple doses.
  • The engineered B cell approach avoids dangerous immune responses and toxic chemotherapy regimens associated with traditional viral gene therapies and stem cell approaches.
  • The first patient showed durable benefits beyond one year and continued positive outcomes including pharmacodynamic, functional, and quality-of-life improvements after re-dosing.
  • A second patient has also been treated with encouraging initial results, demonstrating the platform's potential to transform treatment for genetic diseases like MPS I.

RIBOMIC's Umedaptanib Pegol Shows Promising Growth Rate Improvements in Phase 2 Achondroplasia Trial

Orphan DrugRare Disease
  • RIBOMIC's Phase 2 trial of umedaptanib pegol demonstrated significant height growth improvements in children with achondroplasia, with some patients achieving increases of up to 5.0 cm/year.
  • The biweekly high-dose regimen (0.6 mg/kg) showed comparable efficacy to the approved daily treatment Voxzogo, with four subjects exceeding Voxzogo's average growth rate of 1.7 cm/year.
  • The company plans to initiate Phase 3 trials in Q1 2026 with higher doses and younger patients, targeting regulatory approval by fiscal year 2028 under orphan drug designation.

Form Bio and Cure Rare Disease Partner to Accelerate Gene Therapy Development for Duchenne Muscular Dystrophy

AIRare Disease
  • Form Bio and Cure Rare Disease announced a strategic partnership to accelerate genetic medicine development for rare neuromuscular diseases, beginning with Duchenne muscular dystrophy.
  • Form Bio's AI-powered platform improved AAV therapeutic yield from 13% to 59% in just one month by optimizing the promoter and nuclease components.
  • The collaboration aims to streamline lead candidate selection and reduce development costs while advancing treatments for patients with devastating neuromuscular diseases that currently lack options.
  • The partnership demonstrates how AI-driven genome engineering can enhance gene therapy manufacturability and reduce clinical development risks.

Spruce Biosciences' TA-ERT Receives FDA Breakthrough Therapy Designation for Ultra-Rare Sanfilippo Syndrome Type B

Rare Disease
  • Spruce Biosciences announced that the FDA has granted Breakthrough Therapy Designation to tralesinidase alfa enzyme replacement therapy (TA-ERT) for treating Sanfilippo Syndrome Type B, an ultra-rare and fatal genetic disease.
  • Clinical data demonstrated that TA-ERT produces rapid, profound, and durable effects in normalizing cerebrospinal fluid biomarkers while stabilizing brain volume and cognitive function in pediatric patients.
  • The company plans to submit a Biologics License Application for TA-ERT in the first quarter of 2026, marking a significant regulatory milestone for this orphan disease treatment.
  • Following the announcement, Spruce Biosciences' stock surged 135.4 percent to $20.83 in pre-market trading, reflecting strong investor confidence in the therapy's potential.

Stoke Therapeutics Appoints Ian Smith as CEO as Phase 3 Trial for Dravet Syndrome Treatment Advances

Rare Disease
  • Stoke Therapeutics has appointed Ian Smith as Chief Executive Officer after he served as Interim CEO since March 2025, bringing over 30 years of rare disease drug development experience.
  • The company's lead candidate zorevunersen, a first-in-class potential disease-modifying treatment for Dravet syndrome, is currently being evaluated in a global Phase 3 EMPEROR study.
  • Stoke has entered a collaboration with Biogen for zorevunersen development and commercialization, retaining exclusive rights in the US, Canada, and Mexico while Biogen receives rest-of-world rights.
  • Under Smith's interim leadership, the company achieved multiple milestones including the Phase 3 trial initiation and expansion of their pipeline with a second clinical program in Autosomal Dominant Optic Atrophy.

Harness Therapeutics Launches MISBA Duo Platform for Dual-Target Neurodegenerative Disease Treatment

Rare Disease
  • Harness Therapeutics has launched MISBA Duo, the first platform enabling simultaneous upregulation and downregulation of two targets for neurodegenerative disease treatment.
  • The company has established a research collaboration with Ono Venture Investment to develop therapies for an undisclosed rare triplet repeat disorder using the new platform.
  • The MISBA Duo technology builds on insights from Harness's lead Huntington's Disease program targeting FAN1 nuclease, which is currently in pre-clinical studies.
  • OVI will fund the initiative and secure exclusive option rights to negotiate exclusivity on any resulting candidate molecules and associated intellectual property.

Rocket Pharmaceuticals Withdraws FDA Application for Fanconi Anemia Gene Therapy RP-L102

Rare Disease
  • Rocket Pharmaceuticals voluntarily withdrew its FDA Biologics License Application for RP-L102 (mozafancogene autotemcel), a gene therapy for Fanconi anemia, following a similar withdrawal in the EU in July 2025.
  • The decision reflects business and strategic considerations as the company focuses on programs with clearer regulatory and commercial pathways, not safety or efficacy concerns.
  • RP-L102 was positioned as the first alternative to allogeneic hematopoietic stem cell transplantation for Fanconi anemia type A, targeting patients with FANCA gene mutations.
  • The company remains open to future partnerships to advance the therapy and preserves the option to re-engage with regulators later.

Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A

NCT03157804CompletedPhase 1
Hospital Infantil Universitario Niño Jesús, Madrid, Spain
Posted 1/7/2016

Health Canada Approves AGAMREE as First Treatment for Duchenne Muscular Dystrophy in Canada

Drug ApprovalRare Disease
  • Health Canada has approved AGAMREE (vamorolone) as the first treatment for Duchenne muscular dystrophy in patients aged 4 years and older, marking a historic milestone for Canadian DMD care.
  • The approval was granted under Priority Review and is based on the pivotal VISION-DMD study, where AGAMREE met its primary endpoint with significant improvement in Time to Stand velocity versus placebo (p=0.002).
  • Unlike traditional corticosteroids, AGAMREE demonstrates comparable efficacy while showing no restriction of growth and no negative effects on bone metabolism, potentially offering a better-tolerated treatment option.
  • The Canadian Neuromuscular Disease registry estimates more than 800 boys and young men are living with DMD in Canada, representing a significant unmet medical need now addressed by this approval.

Bial's BIA 28-6156 Reaches Key Milestone in Phase 2 Trial for GBA-Associated Parkinson's Disease

Rare Disease
  • Bial's ACTIVATE Phase 2 trial for BIA 28-6156 has enrolled 273 genetically confirmed GBA-PD patients across 85 sites, with over 80% reaching the one-year treatment milestone.
  • BIA 28-6156 is a first-in-class, once-daily oral allosteric activator of beta-glucocerebrosidase designed to directly modify the underlying cause of GBA-associated Parkinson's disease.
  • The trial is expected to complete by April 2026 with topline results anticipated in Q2 2026, potentially offering the first disease-modifying treatment for this patient population.
  • Bial will present research at the upcoming MDS Congress showing that GBA-PD patients experience more severe and rapidly progressing non-motor symptoms compared to sporadic Parkinson's disease.

Efficacy, Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of BIA 28-6156 in GBA-PD

NCT05819359Active, Not RecruitingPhase 2
Bial R&D Investments, S.A.
Posted 3/31/2023

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