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Gene Therapy Shows Promise for SYNGAP1-Related Brain Disorders in Preclinical Study

Rare Disease
  • Researchers at the Allen Institute successfully used adeno-associated virus gene therapy to deliver functional SYNGAP1 genes to brain cells in juvenile mice, reversing key symptoms of SYNGAP1-related disorders.
  • The treatment resulted in near-complete elimination of epileptic brain activity and significant reductions in hyperactive and risk-taking behaviors within one to two weeks.
  • This represents the first successful demonstration of gene supplementation therapy for SYNGAP1-related disorders, offering potential hope for treating the estimated one million people worldwide affected by these conditions.
  • The study's success in juvenile mice is particularly significant as it mirrors the typical age of diagnosis in humans, suggesting treatment could be effective even after symptom onset.

AskBio Reports Positive Interim Safety Data for AB-1003 Gene Therapy in Rare Muscular Dystrophy Trial

Rare Disease
  • AskBio presented interim safety results from the Phase 1/2 LION-CS101 trial showing no dose-limiting toxicities or serious adverse events for AB-1003 gene therapy in LGMD2I/R9 patients up to 52 weeks post-treatment.
  • The Data Safety Monitoring Board recommended advancing to the second cohort based on acceptable safety profile data from five participants in the first cohort of this double-blind, placebo-controlled study.
  • AB-1003 is an investigational AAV-based gene therapy designed to restore FKRP enzyme activity in muscle cells for treating this rare muscular dystrophy affecting fewer than 5,000 Americans.
  • The trial represents a potential breakthrough for LGMD2I/R9, a progressive condition with no approved treatments that leads to muscle weakness, mobility loss, and impaired heart and lung function.

A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)

NCT05230459RecruitingPhase 1
AskBio Inc
Posted 5/15/2023

Renalys Completes Primary Endpoint Data Collection for Sparsentan Phase III Trial in Japanese IgA Nephropathy Patients

Drug ApprovalRare Disease
  • Renalys Pharma has completed primary endpoint data collection for its Phase III clinical trial of sparsentan (RE-021) for IgA nephropathy in Japan, measuring urine protein creatinine ratio at 36 weeks.
  • The company will analyze efficacy and safety data through 36 weeks and compare results with global Phase III trials to prepare for New Drug Application submission.
  • Sparsentan is an oral dual endothelin and angiotensin II receptor antagonist that received full FDA approval in 2024 for slowing kidney function decline in adults with primary IgA nephropathy.
  • IgA nephropathy represents a significant unmet medical need in Japan, being designated as an intractable disease and one of the main causes of kidney failure.

Delhi High Court Clears Path for Generic Risdiplam Launch, Enabling 97% Price Reduction for Rare Disease Treatment

Rare Disease
  • The Delhi High Court dismissed Roche's appeal against Natco Pharma, allowing the launch of a generic version of risdiplam for spinal muscular atrophy treatment.
  • Natco's generic version will be priced at ₹15,900 per bottle compared to Roche's ₹6.2 lakh, representing a 97% price reduction for this life-saving medication.
  • The ruling prioritizes public health access over patent protection, potentially enabling more patients to benefit from government support under India's National Policy for Rare Diseases.
  • Roche expressed disappointment with the decision and emphasized the importance of intellectual property protection for pharmaceutical innovation in India.

Ascendis Pharma Submits European Marketing Application for TransCon CNP in Achondroplasia Treatment

Rare Disease
  • Ascendis Pharma has submitted a Marketing Authorisation Application to the European Medicines Agency for TransCon CNP (navepegritide) as a treatment for children with achondroplasia.
  • The application is based on data from three randomized, double-blind, placebo-controlled clinical trials and up to three years of open-label extension data, including the pivotal ApproaCH Trial.
  • TransCon CNP is designed as a once-weekly prodrug that provides continuous inhibition of the overactive FGFR3 pathway in achondroplasia patients.
  • The drug is currently under priority review by the U.S. FDA with a PDUFA target date of November 30, 2025.

Aardvark Therapeutics Expands Phase 3 HERO Trial for Prader-Willi Syndrome Treatment to Include Younger Patients

Rare DiseaseOrphan Drug
  • Aardvark Therapeutics received FDA alignment on a protocol amendment to expand its Phase 3 HERO trial of ARD-101 for Prader-Willi Syndrome, lowering the minimum age eligibility from 13 to 10 years old.
  • The expansion allows the company to reach a larger segment of the PWS patient population, with historical data suggesting younger patients are more likely to benefit from early intervention.
  • ARD-101 is a gut-restricted small molecule that activates bitter taste receptors to stimulate release of satiety hormones including GLP-1 and CCK, targeting the insatiable hunger characteristic of PWS.
  • The company expects topline data readout from this potentially pivotal trial in the third quarter of 2026.

Spruce Biosciences Secures $50M to Advance Sanfilippo Syndrome Type B Therapy Toward BLA Submission

Rare Disease
  • Spruce Biosciences raised $50 million in private placement financing to advance tralesinidase alfa enzyme replacement therapy for Sanfilippo Syndrome Type B through biologics license application submission.
  • The funding will support the late-stage development program through BLA submission in Q1 2026 and potential U.S. commercial launch in late 2026.
  • The private placement involved approximately 502,181 shares at $68.00 per share, with some investors purchasing pre-funded warrants exercisable for five years.

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.

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