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Sarepta Therapeutics Implements $400 Million Cost-Cutting Plan Amid Regulatory Challenges for Gene Therapy

Rare Disease
  • Sarepta Therapeutics announced a $400 million annual cost-savings initiative in July 2025, including a 36% workforce reduction of 500 employees to achieve financial sustainability through 2027.
  • The company's Q2 2025 Duchenne muscular dystrophy franchise generated $513 million in net product revenue, with ELEVIDYS gene therapy contributing $282 million despite facing FDA-mandated black box warning for acute liver risks.
  • Sarepta is strategically pivoting from gene therapy to siRNA platform development, discontinuing most LGMD programs while advancing trials for FSHD, myotonic dystrophy, and Huntington's disease with Phase 3 readouts expected in 2026.

FDA Implements Major Workforce Reduction and Policy Changes Amid Regulatory Overhaul

Rare Disease
  • Up to 3,500 FDA staffers received termination notices following a Supreme Court ruling that found the government's HHS overhaul to be lawful.
  • FDA Commissioner Marty Makary proposed lowering prescription drug user fees and offering speedier reviews to companies willing to reduce drug costs.
  • The agency released over 200 complete response letters for transparency, revealing rejection rationales for previously approved therapies including Eli Lilly's Alzheimer's drug Kisunla.
  • Two rare disease therapy rejections were issued to Ultragenyx for Sanfilippo syndrome type A and Capricor Therapeutics for DMD-associated cardiomyopathy.

Eight Healthy Babies Born in Britain Using Three-Person DNA Technique to Prevent Mitochondrial Disease

Rare Disease
  • Eight healthy babies were born in Britain using an experimental technique that combines DNA from three people to prevent mothers from passing devastating mitochondrial diseases to their children.
  • Researchers from Newcastle University and Monash University performed the technique on fertilized embryos from 22 patients, with results published in the New England Journal of Medicine.
  • The method involves transferring genetic material from the mother's egg into a donor egg with healthy mitochondria, creating embryos free from mitochondrial diseases that can cause organ failure and death.
  • One baby showed slightly elevated abnormal mitochondria levels but remains below disease-causing thresholds, requiring ongoing monitoring as the child develops.

MIPLYFFA Shows 5-Year Sustained Efficacy in Rare NPC Disease Extension Study

Rare DiseaseDrug Approval
  • Zevra Therapeutics published long-term data showing MIPLYFFA (arimoclomol) sustained disease progression reduction for at least 5 years in Niemann-Pick disease type C patients.
  • The 48-month open-label extension study included more than 270 patients worldwide, with some receiving treatment for up to seven years.
  • Results demonstrated no new safety concerns and aligned with the pivotal Phase 2/3 trial that showed MIPLYFFA halted disease progression compared to placebo.
  • MIPLYFFA is approved by the FDA for use in combination with miglustat for treating neurological manifestations of NPC in patients 2 years and older.

Endeavor BioMedicines Receives Dual Orphan Drug Designation for Taladegib in Idiopathic Pulmonary Fibrosis

Rare Disease
  • Both the FDA and European Commission have granted Orphan Drug Designation to taladegib (ENV-101) for treating idiopathic pulmonary fibrosis, highlighting significant unmet medical need.
  • The investigational Hedgehog pathway inhibitor aims to reverse disease progression by stopping abnormal myofibroblast accumulation that causes lung fibrosis.
  • Endeavor is currently enrolling patients in the Phase 2b WHISTLE-PF trial, with enrollment expected to complete in 2026.
  • IPF affects more than 150,000 adults in the United States with limited treatment options and an average life expectancy of three to five years after diagnosis.

A Phase 2, Multi-Center, Randomized, Double-Blind, Controlled Trial Evaluating the Safety and Efficacy of ENV-101 in Patients with Lung Fibrosis (WHISTLE-PF Trial)

2024-511754-41-00RecruitingPhase 2
Endeavor Biomedicines Inc.
Posted 11/15/2024

LogiCare3PL Secures Exclusive Distribution Partnership for ChiRhoStim Diagnostic Product

Orphan DrugRare Disease
  • LogiCare3PL, a division of BioCare Inc., has entered into an exclusive third-party logistics partnership with ChiRhoClin Inc. for the distribution of ChiRhoStim (Human Secretin for Injection), effective July 14, 2025.
  • The partnership leverages LogiCare3PL's specialized expertise in orphan drug logistics and operates through two cGMP-compliant, NABP-accredited distribution centers in Arizona and Mississippi.
  • ChiRhoStim serves as a critical diagnostic product for pancreatic and gastrointestinal conditions, supporting ChiRhoClin's mission to provide timely access to diagnostic treatments for rare diseases.

AstraZeneca's Anselamimab Fails Primary Endpoint in Phase III AL Amyloidosis Trial, Shows Promise in Patient Subgroup

Monoclonal AntibodyRare DiseaseOrphan Drug
  • AstraZeneca's CARES Phase III clinical programme evaluating anselamimab in patients with Mayo stages IIIa and IIIb light chain amyloidosis did not achieve statistical significance for the primary endpoint of time to all-cause mortality and cardiovascular hospitalizations.
  • Despite missing the primary endpoint in the overall population, anselamimab demonstrated highly clinically meaningful improvement in survival and cardiovascular hospitalization rates in a prespecified patient subgroup compared to placebo.
  • The investigational anti-fibril monoclonal antibody represents a potentially first-in-class approach to clearing amyloid deposits in AL amyloidosis, a rare and life-threatening disorder affecting an estimated 74,000 patients worldwide.
  • Anselamimab was well tolerated with balanced adverse events between treatment and placebo arms, and Alexion plans to share full results with global health authorities and present data at upcoming medical meetings.

A Study to Evaluate the Efficacy and Safety of CAEL-101 in Patients With Mayo Stage IIIb AL Amyloidosis (CARES)

NCT04504825Active, Not RecruitingPhase 3
Alexion Pharmaceuticals, Inc.
Posted 2/2/2021

A Study to Evaluate the Efficacy and Safety of CAEL-101 in Patients With Mayo Stage IIIa AL Amyloidosis (CARES)

NCT04512235Active, Not RecruitingPhase 3
Alexion Pharmaceuticals, Inc.
Posted 11/12/2020

A Study to Evaluate the Safety and Tolerability of CAEL-101 in Patients With AL Amyloidosis

NCT04304144CompletedPhase 2
Alexion Pharmaceuticals, Inc.
Posted 3/18/2020

Medera Treats First Patient in Groundbreaking Gene Therapy Trial for Duchenne Muscular Dystrophy Heart Failure

Orphan DrugRare Disease
  • Medera and University of Kansas Medical Center successfully treated the first patient in the MUSIC-DMD Phase 1b trial, marking the first-in-human gene therapy approach for DMD-associated cardiomyopathy.
  • The AAV1.SERCA2a gene therapy was delivered via minimally invasive intracoronary infusion, with the patient tolerating the procedure well and being discharged after overnight observation.
  • The trial addresses a critical unmet need as cardiac complications have become the leading cause of death in DMD patients, affecting nearly all patients by age 18.
  • The open-label study will enroll up to 12 adult males across low-dose, high-dose, and control groups to evaluate safety and efficacy of the one-time gene therapy treatment.

Modulation of SERCA2a of Intra-Myocytic Calcium Trafficking in Cardiomyopathy Secondary to Duchenne Muscular Dystrophy

NCT06224660RecruitingPhase 1
Sardocor Corp.
Posted 10/2/2024

FDA Grants Orphan Drug Designation to SH-110 Oral Liquid Therapy for Glioma Treatment

Rare Disease
  • The FDA has granted orphan drug designation to SH-110, an oral liquid formulation specifically designed to treat glioma patients who experience difficulty swallowing.
  • SH-110 addresses a critical unmet need for approximately 15,000 patients diagnosed annually with glioma in the US, offering a safer alternative to capsule-based treatments that often require hazardous compounding.
  • The designation provides Shorla Oncology with significant regulatory incentives including tax credits, user fee waivers, and seven years of market exclusivity upon approval.
  • This development represents part of Shorla's broader mission to create more accessible, patient-centric oncology treatments, following their recent FDA approval of Tepylute for breast and ovarian cancer.

Health Canada Extends Evkeeza Approval to Infants as Young as 6 Months for Rare Cholesterol Disorder

Drug ApprovalRare DiseaseMonoclonal Antibody
  • Health Canada has extended approval of Evkeeza (evinacumab) to treat children as young as 6 months old with homozygous familial hypercholesterolemia (HoFH), a devastating inherited cholesterol disorder.
  • HoFH affects 1 in 300,000 people globally and causes dangerously high LDL cholesterol levels exceeding 10 mmol/L, putting patients at risk for premature heart disease and cardiac events.
  • Evkeeza works by blocking the ANGPTL3 protein to reduce cholesterol levels and is administered monthly via infusion alongside low-fat diet and other cholesterol-lowering medications.
  • The therapy is now commercially available in multiple countries including Canada, the UK, US, Italy, Japan, and several European nations, with early access programs in 13 additional countries.

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