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Foresee Pharmaceuticals Initiates Phase 2 WINDWARD Trial of Mirivadelgat for PH-ILD Treatment

Rare Disease
  • 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.

Congenital Hyperinsulinism Pipeline Shows Promise with Multiple Therapies Advancing Through Clinical Development

Rare DiseaseOrphan Drug
  • DelveInsight's analysis reveals 4+ key companies are developing 6+ therapies for congenital hyperinsulinism, with emerging treatments including CRN-04777, HM 15136, RZ358, and dasiglucagon expected to significantly impact the market.
  • Recent regulatory developments include FDA's Breakthrough Therapy Designation for RZ358 in January 2025 and removal of clinical holds in September 2024, while Zealand Pharma received a Complete Response Letter for dasiglucagon in October 2024.
  • The congenital hyperinsulinism market is anticipated to grow with significant CAGR during 2020-2034, driven by increasing disease awareness and research activities, though challenges remain with high treatment costs and diagnostic complexities.

Novel AAV Capsid Shows Unprecedented Brain Transduction Potential for Gene Therapy

NeurologyRare Disease
  • 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.

Beam Therapeutics to Present Updated BEAM-101 Data from 17 Sickle Cell Disease Patients at EHA 2025

Gene EditingRare Disease
  • Beam Therapeutics will present updated safety and efficacy data from 17 sickle cell disease patients treated with BEAM-101 in the ongoing BEACON Phase 1/2 clinical trial at the European Hematology Association 2025 Congress.
  • BEAM-101 is an investigational one-time base-edited cell therapy that increases fetal hemoglobin production by targeting the HBG1/2 gene promoter regions to address the root cause of sickle cell disease.
  • The company will showcase multiple presentations including red blood cell health biomarkers and manufacturing process data, demonstrating the potential of base editing technology for precision genetic medicines.
  • Sickle cell disease affects approximately 100,000 individuals in the United States and eight million people worldwide, representing a significant unmet medical need for transformative treatments.

A Long-term Follow-up Study in Participants Who Received CTX001

NCT04208529Unknown StatusPhase 3
Vertex Pharmaceuticals Incorporated
Posted 1/20/2021

A Safety and Efficacy Study Evaluating CTX001 in Subjects With Severe Sickle Cell Disease

NCT03745287CompletedPhase 2
Vertex Pharmaceuticals Incorporated
Posted 11/27/2018

BEACON: A Study Evaluating the Safety and Efficacy of BEAM-101 in Patients With Severe Sickle Cell Disease

NCT05456880RecruitingPhase 1
Beam Therapeutics Inc.
Posted 8/30/2022

A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-Thalassemia

NCT03655678Active, Not RecruitingPhase 2
Vertex Pharmaceuticals Incorporated
Posted 9/14/2018

Comend and Odylia Therapeutics Form Strategic Partnership to Transform Rare Disease Drug Development Through Patient-Driven Platform

Rare Disease
  • 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.

Avadel Pharmaceuticals Appoints Susan Rodriguez as Chief Operating Officer to Drive LUMRYZ Commercial Expansion

Rare DiseaseOrphan Drug
  • Avadel Pharmaceuticals has appointed Susan Rodriguez as Chief Operating Officer to lead commercial strategy and operations for LUMRYZ, the first once-at-bedtime oxybate treatment for narcolepsy.
  • Rodriguez brings over 30 years of life sciences experience, including leadership roles at Ardelyx, Tolmar Pharmaceuticals, and Abbott, with expertise in rare disease commercialization.
  • The appointment comes as Avadel scales to meet increasing patient demand for LUMRYZ and works toward potential label expansion to idiopathic hypersomnia.
  • LUMRYZ has received FDA approval for both adult and pediatric narcolepsy patients and holds 7 years of Orphan Drug Exclusivity due to clinical superiority over existing treatments.

Axovia Therapeutics Advances Gene Therapy for Bardet-Biedl Syndrome Blindness with Promising Preclinical Data

Rare Disease
  • 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.

Givinostat Shows Promise for Duchenne Muscular Dystrophy as Families Push for Broader Access

Rare Disease
  • Givinostat, a histone deacetylase inhibitor, has received conditional approval in Europe for treating Duchenne Muscular Dystrophy (DMD), offering hope to slow disease progression in affected boys.
  • The drug works by reducing inflammation and scar tissue buildup to improve muscle repair, potentially extending mobility periods from six months to two years according to patient advocates.
  • Families across Ireland and the UK are campaigning for broader access to the medication, which costs approximately €4,191 per month for typical dosing but remains unavailable in many regions despite regulatory approval.

Clemson Researchers Test Existing Drugs for Sanfilippo Syndrome Using Fruit Fly Models

Rare Disease
  • 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.

Neurofibromatoses Pipeline Shows Strong Activity with 12+ Therapies in Development Across Multiple Clinical Stages

Rare DiseaseOrphan Drug
  • DelveInsight's 2025 pipeline report reveals over 10 pharmaceutical companies are actively developing 12+ therapies for neurofibromatoses treatment across various clinical stages.
  • Key developments include Healx Limited's HLX-1502 entering Phase II trials for NF1 patients and Shanghai Fosun Pharmaceutical's FCN-159 advancing to Phase III development.
  • The pipeline features diverse therapeutic approaches including MEK inhibitors, with companies like Pasithea Therapeutics and NFlection Therapeutics contributing novel small molecule candidates.
  • Leading pharmaceutical companies such as Novartis are conducting long-term studies assessing dabrafenib and trametinib effects in pediatric neurofibromatoses patients.

A Study to Test How Well BI 3720931 is Tolerated and Whether it Improves Lung Function in People With Cystic Fibrosis (Lenticlair™ 1)

NCT06515002Active, Not RecruitingPhase 1
Boehringer Ingelheim
Posted 11/4/2024

A Phase 1 Study Evaluating Safety and Tolerability of RCT2100 (in CF mRNA) in Healthy Participants and in Participants With CF

2024-512169-15-00RecruitingPhase 1/2
Recode Therapeutics Inc.
Posted 2/1/2024

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