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Study Reveals Significant Diagnostic Delays for Minority Patients with Generalized Myasthenia Gravis

Rare DiseaseNeurology
  • Project ASPIRE research reveals racial and ethnic minority patients with generalized myasthenia gravis (gMG) face nearly four-month longer diagnostic delays compared to white patients, despite seeking care at similar timeframes.
  • Key barriers to timely gMG diagnosis include poor symptom recognition by both patients and physicians, limited access to specialists, and challenges with medical record transfers between healthcare systems.
  • Minority patients reported significantly higher stress levels during their diagnostic journey, with nearly double the percentage rating their experience as "very stressful" compared to white patients.

SOLVE FSHD Partners with Modalis to Develop CRISPR-Based Epigenome Editing Therapy for Muscular Dystrophy

Rare Disease
  • SOLVE FSHD and Modalis Therapeutics announced a strategic collaboration to develop MDL-103, an innovative CRISPR-based therapy targeting facioscapulohumeral muscular dystrophy (FSHD).
  • The therapy uses Modalis's proprietary CRISPR-GNDM® technology to continuously suppress the toxic DUX4 gene expression without introducing DNA breaks.
  • MDL-103 is designed for durable activity with muscle-specific delivery via AAV system, having shown promising efficacy in mouse models and safety in non-human primates.
  • FSHD affects approximately 1 million individuals worldwide, representing a significant unmet medical need in neuromuscular disorders.

Ascelia Pharma Advances Orviglance NDA Following Positive FDA Meeting, Submission Planned for Mid-2025

Drug ApprovalOncologyRare Disease
  • Ascelia Pharma has received positive guidance from the FDA regarding its New Drug Application for Orviglance, a novel contrast agent for MRI liver imaging in patients with impaired kidney function.
  • The company's Phase 3 SPARKLE study met its primary endpoint with statistical significance (p<0.001), demonstrating Orviglance's ability to improve visualization of focal liver lesions in the target patient population.
  • Following successful completion of nine clinical studies involving 286 participants, Ascelia plans to submit the Orviglance NDA by mid-2025, likely in early August, with a cash runway extending through at least the end of 2025.

Prime Medicine Advances Gene Editing Program for Alpha-1 Antitrypsin Deficiency with 72% Correction Rate

Gene EditingRare Disease
  • Prime Medicine unveiled a preclinical program using Prime Editing technology to treat alpha-1 antitrypsin deficiency (AATD), targeting the prevalent E342K mutation in the SERPINA1 gene.
  • Preclinical studies demonstrated up to 72% precise gene correction in hepatocytes of humanized mice, restoring over 95% of serum AAT to the corrected isoform with levels above 20µM.
  • The company plans to file an investigational new drug application in mid-2026, with clinical data expected in 2027 for this genetic liver disease affecting approximately 200,000 people.

Tofersen Shows Promise in Slowing Progression of SOD1 Motor Neuron Disease

Rare DiseaseNeurology
  • Tofersen, developed by Biogen, has demonstrated significant efficacy in slowing the progression of MND in patients with the SOD1 genetic mutation, offering a breakthrough in treatment for this previously untreatable condition.
  • Despite being available through Biogen's Extended Access Program at no cost, some patients face barriers to access as the NHS struggles with administration costs and capacity for the monthly lumbar puncture procedure.
  • Clinical trials, including the ATLAS study, show particularly promising results when treatment begins before symptom onset, with some patients remaining symptom-free despite elevated neurofilament levels indicating disease activation.

Benralizumab Shows Superior Long-Term Outcomes in Eosinophilic Granulomatosis with Polyangiitis

Monoclonal AntibodyRare Disease
  • The MANDARA study extension demonstrates that benralizumab maintains remission in 62.1% of EGPA patients through 104 weeks, with 43.9% achieving complete oral glucocorticosteroid withdrawal.
  • Benralizumab's superior eosinophil depletion mechanism, targeting IL-5 receptors rather than IL-5 directly, provides more complete and rapid eosinophil suppression compared to mepolizumab.
  • Real-world evidence confirms that IL-5 pathway inhibitors significantly reduce disease burden, with mepolizumab showing 18% reduction in daily oral corticosteroid use and 49% decrease in EGPA-related hospitalizations.
  • The convenience advantage of benralizumab's monthly dosing versus mepolizumab's requirement for three monthly injections may improve patient compliance and treatment outcomes.

Bayer and CRISPR Therapeutics Form $300 Million Joint Venture to Advance Gene-Editing Therapies

Gene EditingRare Disease
  • Bayer is investing $300 million over five years in a new joint venture with CRISPR Therapeutics, plus $35 million for a minority stake in the gene-editing pioneer.
  • The collaboration will focus on developing potential curative treatments for hemophilia, congenital heart disease, and Stargardt disease using CRISPR-Cas9 gene-editing technology.
  • This partnership represents Bayer's first investment through its newly established Bayer LifeScience Centre and joins other major pharmaceutical companies including Vertex, Novartis, and Celgene in backing CRISPR-Cas9 technology.

Roche's PiaSky Becomes First Subcutaneous PNH Therapy Approved in EU

Drug ApprovalMonoclonal AntibodyRare Disease
  • Roche's PiaSky (crovalimab) has received European Commission approval as the first subcutaneous therapy for paroxysmal nocturnal haemoglobinuria (PNH) that can be self-administered monthly at home.
  • The approval is based on COMMODORE 2 trial data showing PiaSky was equivalent to AstraZeneca's Soliris in controlling red blood cell destruction while reducing blood transfusion needs.
  • PiaSky now has regulatory clearance in the top four global pharmaceutical markets including China, Japan, the US, and EU, positioning it to compete with established intravenous therapies.
  • The drug faces emerging competition from oral therapies including Novartis' recently approved Fabhalta, which analysts predict could reach $3.6 billion in peak annual sales.

A Study Evaluating the Efficacy and Safety of Crovalimab Versus Eculizumab in Participants With Paroxysmal Nocturnal Hemoglobinuria (PNH) Not Previously Treated With Complement Inhibitors

NCT04434092Active, Not RecruitingPhase 3
Hoffmann-La Roche
Posted 10/8/2020

FDA Clears BlackfinBio's Gene Therapy Trial for Rare Hereditary Spastic Paraplegia

FDA ApprovalOrphan DrugRare Disease
  • The US FDA has approved BlackfinBio's investigational new drug application for BFB-101, an adeno-associated virus gene therapy targeting hereditary spastic paraplegia type 47 (SPG47).
  • The Phase I/II trial will enroll up to five children with AP4B1-associated SPG47 at Boston Children's Hospital, with recruitment expected to begin by year-end.
  • BFB-101 will be administered via intra-cisterna magna injection to deliver the functional AP4B1 gene copy directly to the central nervous system.
  • The therapy has received FDA orphan drug and rare pediatric disease designations for SPG47, a progressive condition causing lower-limb spasticity and developmental delays.

First-in-Human Gene Therapy Trial Launches for Rare Muscle Disorder FSHD

Rare Disease
  • A 24-year-old woman from York has become one of the first patients worldwide to participate in the FORTITUDE trial, a pioneering gene therapy study for facioscapulohumeral muscular dystrophy (FSHD).
  • The therapy, developed by Avidity Biosciences, targets the DUX4 gene that triggers muscle weakness and degeneration in FSHD patients, aiming to silence the gene and disrupt disease progression.
  • Preliminary data from the first phase showed unprecedented and consistent reduction of DUX4 regulated genes at four months, along with indications of functional improvement.
  • Sheffield Teaching Hospitals NHS Foundation Trust is one of only two non-American centers and the only UK site in Northern England recruiting patients for this landmark first-in-human trial.

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