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Edgewise Therapeutics Expands EDG-5506 Clinical Program with New Duchenne Trial for Gene Therapy Recipients

Rare Disease
  • Edgewise Therapeutics has announced the FOX trial, a new Phase 2 study of EDG-5506 targeting children and adolescent boys aged 6-14 with Duchenne who have previously received gene therapy.
  • The 12-week placebo-controlled trial will evaluate safety, pharmacokinetics, and muscle health markers, followed by an open-label extension where all participants receive EDG-5506.
  • The company is simultaneously conducting the LYNX Phase 2 trial in corticosteroid-naive Duchenne patients aged 4-9, with interim results expected in the first half of 2024.
  • EDG-5506 is also being tested in the GRAND CANYON pivotal trial for Becker muscular dystrophy, with approximately 120 participants enrolled for an 18-month treatment period.

FDA's New Real-World Data Guidance: Streamlining Drug Development and Regulatory Approval

Rare Disease
  • The FDA has released new guidance clarifying that non-interventional studies using real-world data (RWD) do not require investigational new drug applications, potentially accelerating drug development timelines.
  • The guidelines address three key challenges: long-term patient follow-up after clinical trials, participants lost to follow-up during trials, and demonstrating value for reimbursement of novel therapies.
  • By incorporating RWD from sources like electronic health records, claims data, and registries, pharmaceutical companies can enhance clinical trial designs and provide more comprehensive evidence for regulatory decision-making.

First Veteran Receives FDA-Approved Qalsody for SOD1-ALS at Houston VA Medical Center

NeurologyRare DiseaseDrug ApprovalFDA Approval
  • Roy Swearingen, a 65-year-old Marine Corps veteran from Texas, became the first veteran in the United States to receive Qalsody, an FDA-approved medication for SOD1-mutated ALS.
  • Qalsody represents the first approved treatment targeting a genetic cause of ALS, specifically for patients with mutations in the superoxide dismutase 1 (SOD1) gene, affecting 1-2% of ALS patients.
  • The Houston VA ALS Center's rapid implementation of this cutting-edge therapy demonstrates the VA's commitment to providing veterans with timely access to innovative treatments.
  • Veterans face higher ALS risk compared to the general population, making early detection and specialized care crucial for optimal quality of life management.

First Fully AI-Generated Drug Enters Phase II Clinical Trials for Idiopathic Pulmonary Fibrosis

AIDrug DiscoveryRare Disease
  • Insilico Medicine's INS018_055 becomes the first drug with both AI-discovered target and AI-generated design to reach Phase II clinical trials for idiopathic pulmonary fibrosis treatment.
  • The drug development process took just 30 months from target discovery to Phase I trials, approximately half the time of traditional drug discovery methods.
  • IPF affects about 100,000 people in the U.S. and typically leads to death within 2-5 years if untreated, with current treatments only slowing disease progression.
  • The Phase II trial is a randomized, double-blind, placebo-controlled study over 12 weeks in China, with plans to expand to 60 subjects across 40 sites in the U.S. and China.

CRISPR Gene Therapies Show Promise in Early Sickle Cell Disease Trials

Rare Disease
  • Two distinct CRISPR-based gene therapies demonstrate encouraging safety and efficacy results in early-stage clinical trials for sickle cell disease patients.
  • The RUBY trial's EDIT-301 therapy achieved normal hemoglobin levels and eliminated pain attacks for up to 11 months in four patients using novel CRISPR/Cas12 technology.
  • A separate Phase I/II trial of OTQ923 therapy successfully increased fetal hemoglobin levels and reduced vaso-occlusive events using CRISPR-Cas9 edited stem cells.
  • These developments expand treatment options beyond traditional bone marrow transplants for the estimated 100,000 Americans living with sickle cell disease.

Study of Safety and Efficacy of Genome-edited Hematopoietic Stem and Progenitor Cells in Sickle Cell Disease (SCD)

NCT04443907TerminatedPhase 1
Novartis Pharmaceuticals
Posted 8/25/2020

U.S. Tuberous Sclerosis Drug Market Projected to Reach $1.25 Billion by 2030, Growing at 23.1% CAGR

Drug ApprovalNeurologyRare Disease
  • The U.S. tuberous sclerosis drug market is expected to grow from $237.2 million in 2022 to $1.25 billion by 2030, driven by FDA approvals of new treatments and increasing disease prevalence.
  • FDA-approved treatments include Afinitor (everolimus) for patients aged 2 and above, approved in 2018, and Epidiolex (cannabidiol) for patients aged 1 and above, approved in 2020.
  • mTOR inhibitors are gaining significant traction in treatment protocols, showing effectiveness for internal tumors and skin lesions, with FDA approval for treating lung complications like Lymphangioleiomyomatosis (LAM) in 2015.

IntraBio Completes Over-Enrollment for Pivotal Niemann-Pick Disease Type C Trial, Data Expected Q2 2023

Rare DiseaseOrphan Drug
  • IntraBio successfully completed recruitment for its Phase III pivotal trial of IB1001 (N-Acetyl-L-Leucine) for Niemann-Pick disease type C, enrolling 130% of target patients across 13 international sites.
  • The company over-enrolled by 125% due to high community interest and unmet medical need, substantially increasing the statistical power of the randomized, placebo-controlled, double-blind crossover study.
  • Data readout is anticipated before the end of Q2 2023, with the trial designed to support accelerated approval pathways with both FDA and EMA for chronic NPC symptom treatment.
  • Upon approval, IntraBio would be eligible for an FDA priority review voucher, which have sold for over $100 million each in the past two years.

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

NCT05163288RecruitingPhase 3
IntraBio Inc
Posted 6/30/2022

FDA Approves Zanubrutinib for Waldenström's Macroglobulinemia Treatment

Drug ApprovalRare Disease
  • The FDA has approved zanubrutinib (Brukinsa) for treating adult patients with Waldenström's macroglobulinemia, marking the second therapy specifically approved for this rare lymphoma.
  • The approval was based on the phase 3 ASPEN trial comparing zanubrutinib to ibrutinib, showing a higher very good partial response rate of 28% versus 19% respectively.
  • Zanubrutinib demonstrated improved tolerability compared to the first-generation BTK inhibitor ibrutinib across several clinically important side effects.
  • The drug is administered orally at either 160 mg twice daily or 320 mg once daily, offering patients a convenient single-agent treatment option.

A Study Comparing BGB-3111 and Ibrutinib in Participants With Waldenström's Macroglobulinemia (WM)

NCT03053440CompletedPhase 3
BeiGene
Posted 1/25/2017

Tofersen Shows Promise in Phase 1/2 Trial for Inherited Form of ALS

Rare Disease
  • Biogen's experimental drug tofersen demonstrated safety and successfully lowered levels of disease-causing SOD1 protein in patients with a rare inherited form of ALS in a phase 1/2 clinical trial.
  • The antisense oligonucleotide treatment reduced SOD1 protein concentrations by up to 33% in the high-dose group, with some indications it may slow disease progression, prompting advancement to phase 3 trials.
  • While targeting only approximately 2% of ALS patients with SOD1 mutations, researchers believe this approach could establish a platform for treating other forms of ALS and neurodegenerative conditions through protein regulation.

FDA Approves First Treatment for Primary Hemophagocytic Lymphohistiocytosis, Marking 24-Year Breakthrough

Monoclonal AntibodyDrug ApprovalRare DiseaseOrphan Drug
  • The FDA has approved emapalumab-lzsg (Gamifant) as the first treatment specifically indicated for primary hemophagocytic lymphohistiocytosis (HLH), an ultra-rare and life-threatening immune disorder.
  • In a pivotal phase 2/3 study of 27 patients with refractory disease, 63% demonstrated overall response and 70% proceeded to hematopoietic stem cell transplant.
  • The monoclonal antibody targets interferon gamma, representing the first significant improvement in primary HLH induction therapy in 24 years.
  • Primary HLH typically affects children within the first year of life and has a median survival of less than two months without treatment.

Study to Investigate Safety, Efficacy of an Anti-IFNγ mAb in Children With Primary Haemophagocytic Lymphohistiocytosis

NCT01818492CompletedPhase 2
Swedish Orphan Biovitrum
Posted 7/1/2013

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