Tagged News
Breakthrough Gene Editing Therapy Successfully Treats Infant with Rare Metabolic Disorder
- Researchers at Children's Hospital of Philadelphia have successfully treated an infant with a severe metabolic disorder using a customized gene editing therapy, as reported at ASGCT 2025.
- The groundbreaking case study, presented by Dr. Kiran Musunuru from the University of Pennsylvania, was simultaneously published in The New England Journal of Medicine.
- This bespoke gene editing approach targets the underlying genetic causes rather than just managing symptoms, potentially transforming treatment paradigms for metabolic disorders.
Foresee Pharmaceuticals Initiates Phase 2 WINDWARD Trial of Mirivadelgat for PH-ILD Treatment
- Foresee Pharmaceuticals has dosed the first patient in its Phase 2 WINDWARD study evaluating mirivadelgat, a first-in-class oral ALDH2 activator, for the treatment of pulmonary hypertension associated with interstitial lung disease (PH-ILD).
- The multinational, double-blind trial will enroll 99 patients across three arms to assess mirivadelgat's efficacy in improving pulmonary vascular resistance and other key clinical endpoints over a 16-week treatment period.
- Mirivadelgat represents a potential breakthrough as it targets both cardiovascular and lung disease components of PH-ILD, a severe condition with limited treatment options currently served only by inhaled treprostinil.
Novel AAV Capsid Shows Unprecedented Brain Transduction Potential for Gene Therapy
- Latus Bio has developed AAV-Ep+, a novel AAV capsid variant that demonstrates exceptional ability to transduce ependymal cells and cerebral neurons in both mice and non-human primates.
- The breakthrough capsid enables efficient protein secretion into cerebrospinal fluid, potentially allowing single-administration gene therapies for lysosomal storage disorders and other neurological diseases.
- In preclinical studies, low-dose administration of AAV-Ep+ expressing human TPP1 achieved protein levels significantly exceeding those of natural AAV capsids, reaching potentially therapeutic levels for CLN2 disease patients.
Comend and Odylia Therapeutics Form Strategic Partnership to Transform Rare Disease Drug Development Through Patient-Driven Platform
- Comend and Odylia Therapeutics announced a strategic partnership to streamline rare disease drug development through an innovative patient advocacy group platform launching in April 2025.
- The collaboration addresses a critical gap in rare disease treatment, with over 10,000 rare diseases affecting one in ten people worldwide but treatments available for fewer than 500 conditions.
- The merged platform will connect patient advocacy groups with service providers including CROs and academic organizations, potentially accelerating drug development timelines by several years.
- Odylia brings expertise in rare disease drug development and three gene therapies in development, while Comend provides technology solutions and marketplace capabilities for patient groups.
Axovia Therapeutics Advances Gene Therapy for Bardet-Biedl Syndrome Blindness with Promising Preclinical Data
- Axovia Therapeutics presented new preclinical data for AXV-101, a gene therapy targeting blindness associated with Bardet-Biedl Syndrome, demonstrating efficacy of a multi-bleb dosing strategy that preserves up to 70% of normal retinal function.
- The company's biodistribution studies showed AXV-101 remains primarily in eye tissue with minimal transfer to nearby neuronal tissues and no distribution to organs outside the central nervous system, supporting its safety profile.
- Based on these encouraging results, Axovia plans to initiate a Phase 1/2 first-in-human clinical trial for AXV-101 in mid-2025, offering potential hope for BBS patients who currently have no curative treatment options.
Clemson Researchers Test Existing Drugs for Sanfilippo Syndrome Using Fruit Fly Models
- Clemson University researchers are testing four FDA-approved drugs for potential treatment of Sanfilippo syndrome, a fatal neurodegenerative disease affecting children.
- The study uses fruit fly models to evaluate drug efficacy, leveraging the fact that 70% of human disease genes have fruit fly counterparts.
- The research focuses on addressing heparan sulfate buildup in cellular lysosomes, which causes progressive brain damage in affected children.
- If successful in fruit flies, the drugs could advance to human clinical trials within the next few years at the Greenwood Genetic Center.
Vivo Capital Secures $740 Million for Third Cycle of Healthcare Investment Fund
- Vivo Capital has closed the third cycle of its Opportunity Fund with over $740 million in commitments, focusing on preclinical and clinical-stage life sciences companies developing novel therapies.
- The fund has previously backed companies that achieved significant milestones, including FDA approvals for treatments targeting COPD, myelodysplastic syndrome, narcolepsy, and Prader-Willi Syndrome.
- Several Vivo-backed companies have been acquired by pharmaceutical giants in billion-dollar deals, including RayzeBio (Bristol-Myers Squibb, $4.1B), Chinook Therapeutics (Novartis, $3.2B), and Sierra Oncology (GSK, $1.9B).
Dawn Health Secures €11.5 Million to Expand Pharma-Focused Digital Health Platform
- Copenhagen-based Dawn Health has raised €11.5 million from existing investors to scale its regulatory-grade digital health platform designed specifically for pharmaceutical companies.
- The platform, already utilized by industry leaders like Merck and Novartis, supports patients with conditions including oncology, multiple sclerosis, and rare pediatric diseases through AI-driven symptom tracking and clinical integration.
- This funding will accelerate Dawn Health's SaaS delivery model, product development, and international expansion as the company aims to become the global leader in pharmaceutical digital health solutions.
Neurofibromatosis Type 1 with Plexiform Neurofibromas: Diagnosis, Epidemiology and Clinical Manifestations
- Neurofibromatosis Type 1 (NF1) affects approximately 1 in 3000 individuals globally, with plexiform neurofibromas (PNs) occurring in up to 50% of NF1 patients.
- NF1 is typically diagnosed in early childhood between ages 4-6 using NIH clinical criteria, including café-au-lait macules, neurofibromas, and other characteristic manifestations.
- Plexiform neurofibromas are usually congenital but become clinically apparent in early childhood, with symptoms including disfiguring masses, pain, neurological deficits, and compression of adjacent structures.
FDA Approves Miplyffa for Niemann-Pick Type C Disease, Offering New Hope for Rare Genetic Disorder
- The FDA has approved Miplyffa, a new medication for treating Niemann-Pick Type C (NPC), a fatal genetic disorder affecting approximately 900 people in the United States.
- Miplyffa works by protecting cells from fat accumulation and slowing disease progression, helping patients maintain neurological function for longer periods.
- The drug is approved for children over two years old and has shown promising results in early patients, with some experiencing stabilization or improvement in disease markers within three months.
- NPC is a progressive disorder that typically robs patients of their ability to speak, think clearly, swallow, walk, and move, often affecting children and young adults.