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FDA Approves Gamifant as First Treatment for Macrophage Activation Syndrome in Still's Disease

Drug ApprovalMonoclonal AntibodyRare Disease
  • The FDA has approved Gamifant (emapalumab-lzsg) as the first-ever treatment for adults and children with macrophage activation syndrome in Still's disease, marking a significant breakthrough for patients with this life-threatening condition.
  • Clinical trials demonstrated that 54% of patients achieved complete response at week 8, with 82% reaching clinical MAS remission, providing new hope for managing severe hyperinflammation.
  • This approval addresses a critical unmet medical need for patients with MAS, offering an alternative to high-dose glucocorticoids and potentially reducing reliance on conventional therapies with significant side effects.

Evaluate Efficacy, Safety and Tolerability, PK and PD of Emapalumab in Children and Adults With MAS in Still's or SLE

NCT05001737CompletedPhase 3
Swedish Orphan Biovitrum
Posted 12/15/2021

Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)

NCT06617429Active, Not RecruitingPhase 3
Ultragenyx Pharmaceutical Inc
Posted 12/3/2024

A Study to Investigate the Safety and Efficacy of Emapalumab, an Anti-IFN-gamma mAb in Patients With Systemic Juvenile Idiopathic Arthritis (sJIA) or Adult-onset Still's Disease (AOSD) Developing Macrophage Activation Syndrome/Secondary HLH (MAS/sHLH)

NCT03311854CompletedPhase 2
Swedish Orphan Biovitrum
Posted 2/20/2018

PRD Therapeutics Initiates First-in-Human Trial of SOAT2-Selective Inhibitor PRD001 for Rare Cholesterol Disorders

Rare Disease
  • PRD Therapeutics has initiated dosing in the first-ever clinical trial of PRD001, a first-in-class SOAT2-selective inhibitor targeting homozygous familial hypercholesterolemia and metabolic dysfunction-associated fatty liver disease.
  • The Phase 1 study represents a breakthrough as the first clinical trial of an SOAT2-selective inhibitor, distinguishing it from previous SOAT1/2 dual or SOAT1-selective inhibitor trials.
  • Preclinical studies in animal models demonstrated that PRD001 effectively lowers blood and liver lipids while suppressing fatty liver and atherosclerosis progression without adverse events.
  • The oral therapy has potential to become the first effective treatment for HoFH patients who suffer from absent or extremely low LDL receptor activity.

A First-in-Human Study of PRD001

NCT07034183RecruitingPhase 1
PRD Therapeutics, Inc.
Posted 6/19/2025

BioCryst Pharmaceuticals Divests European ORLADEYO Rights for $264 Million to Achieve Debt-Free Status

Rare Disease
  • BioCryst Pharmaceuticals sold its European commercial rights to ORLADEYO, a C1 inhibitor therapy for hereditary angioedema, to Neopharmed Gentili for up to $264 million on June 27, 2025.
  • The $250 million upfront payment will eliminate BioCryst's remaining $249 million term debt and save approximately $70 million in annual interest payments.
  • The transaction is expected to reduce operating expenses by $50 million annually while positioning BioCryst to end 2027 with $700 million in cash and no term debt.
  • BioCryst retains global royalty benefits from European sales and plans to reinvest savings into its rare disease pipeline, including pediatric ORLADEYO and BCX17725 for Netherton syndrome.

Complement-Based Drug Development Gains Momentum Following FDA Approvals and Pipeline Advances

Drug ApprovalRare Disease
  • The complement-based therapeutics field is experiencing significant growth following recent FDA approvals, including Novartis' alternative complement inhibitor for PNH and SYFOVRE approval.
  • Multiple complement inhibitors are advancing through clinical trials across diverse therapeutic areas including nephrology, ophthalmology, neurodegeneration, and inflammation.
  • Industry focus is expanding beyond rare diseases to larger patient populations, with companies exploring combination therapies and indication expansion strategies.
  • The 8th Annual Complement-Based Drug Development Summit will convene 100+ industry leaders to address key challenges in complement pathway targeting and clinical trial design.

UCB's Fenfluramine Achieves Positive Phase 3 Results in Ultra-Rare CDKL5 Deficiency Disorder

Rare Disease
  • UCB announced that its Phase 3 GEMZ study of adjunctive fenfluramine in CDKL5 deficiency disorder met primary and key secondary endpoints in 87 patients aged 1-35 years.
  • The randomized, double-blind, placebo-controlled study demonstrated significant reduction in countable motor seizure frequency compared to placebo in this ultra-rare developmental and epileptic encephalopathy.
  • This marks the third developmental and epileptic encephalopathy population where fenfluramine has shown positive Phase 3 results, following previous approvals for Dravet syndrome and Lennox-Gastaut syndrome.
  • UCB plans to submit for regulatory approval to make this potential treatment available for CDKL5 deficiency disorder, which affects approximately 1 in 40,000 to 60,000 live births.

A Study to Investigate the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder

NCT05064878Active, Not RecruitingPhase 3
Zogenix, Inc.
Posted 3/8/2022

First European Patient Receives Breakthrough Treatment for Ultra-Rare APDS Immune Disorder

Rare DiseaseTargeted TherapyDrug ApprovalOrphan Drug
  • Mary Catchpole, 19, becomes the first European patient to receive leniolisib (Joenja), a newly approved targeted treatment for activated PI3-kinase delta syndrome (APDS), a rare inherited immune disorder.
  • The drug works by inhibiting an overactive enzyme that disrupts immune function, offering a potential cure for patients who previously faced lifelong infections and invasive treatments.
  • APDS was discovered by Cambridge researchers in 2013 with help from Catchpole's family, who lost four members to the condition before this breakthrough treatment became available.
  • The NHS approved leniolisib at a list price of £352,000 per year with a confidential discount, potentially benefiting up to 50 patients over age 12 in England.

Budget Impact Analysis Shows Revumenib Cost-Neutral for Health Plans Despite High Specialty Drug Costs

Targeted TherapyRare Disease
  • A recent budget impact analysis demonstrates that revumenib (Revuforj) for relapsed/refractory acute leukemias with KMT2A translocation would be cost-neutral for health plans over three years.
  • The cost neutrality is primarily driven by revumenib's oral administration, which eliminates expensive infusion-related costs including chair time and administration fees.
  • The analysis highlights challenges in evaluating rare disease treatments affecting only 1.7 individuals per million patients, where traditional cost-effectiveness methods may not adequately capture therapeutic value.
  • Patient adherence to the oral therapy remains a critical variable that could influence long-term cost-effectiveness and clinical outcomes.

Longeveron Appoints Than Powell as Chief Business Officer to Lead Alzheimer's and HLHS Program Strategy

Rare Disease
  • Longeveron Inc. has appointed Than Powell as Chief Business Officer effective July 7, 2025, to oversee partnering efforts for Alzheimer's disease and international strategy for hypoplastic left heart syndrome programs.
  • The appointment comes as the company recently completed enrollment in its pivotal Phase 2 trial for laromestorcel in HLHS, with top-line data expected in approximately 13 months.
  • Powell brings over 25 years of pharmaceutical and biotech leadership experience from organizations including GSK and Eli Lilly, positioning the company for potential BLA submission.
  • Laromestorcel has received five FDA designations across its programs, including Orphan Drug, Fast Track, and RMAT designations for various indications.

Cellarity Initiates Phase 1 Trial of CLY-124, First-in-Class Oral Therapy for Sickle Cell Disease

AIRare Disease
  • Cellarity has dosed the first patient in a Phase 1 clinical trial of CLY-124, a novel oral medicine that increases fetal hemoglobin through a globin-switching mechanism to treat sickle cell disease.
  • The drug was discovered using AI-powered transcriptomic analysis and demonstrated the ability to increase fetal hemoglobin above 20% in preclinical studies without cytotoxicity.
  • CLY-124 represents a potential breakthrough for sickle cell disease treatment, offering a once-daily oral alternative to current therapies that carry dose-limiting toxicity.
  • The Phase 1 global trial will evaluate safety, tolerability, and pharmacokinetics in healthy volunteers before advancing to sickle cell disease patients.

GenSight Biologics Successfully Transfers LUMEVOQ Manufacturing to Catalent for LHON Gene Therapy

Rare Disease
  • GenSight Biologics has successfully transferred the upstream manufacturing process for LUMEVOQ, its gene therapy for Leber Hereditary Optic Neuropathy (LHON), to manufacturing partner Catalent Inc.
  • The partnership is expected to improve yield and upgrade analytical methods ahead of clinical use and regulatory submissions for the rare mitochondrial disease treatment.
  • Catalent manufactured a drug product batch released as safe for human use in November 2024, which will supply France's named patient early access program and dose-ranging study.
  • The collaboration positions GenSight for its planned global Phase III RECOVER trial beginning in 2026 and upcoming regulatory submissions to FDA and EMA.

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