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Intellia's CRISPR Gene Therapy Shows Potential as Functional Cure for Hereditary Angioedema in Long-Term Study

Rare DiseaseGene EditingOrphan Drug
  • Intellia Therapeutics' NTLA-2002, an in vivo CRISPR-based gene editing therapy, demonstrated a 98% mean reduction in monthly hereditary angioedema attack rates across all patients, with follow-up extending beyond two years.
  • Eight of ten patients remained completely attack-free following the initial 16-week observation period, with the longest attack-free duration reaching over 26 months and continuing.
  • The single-dose treatment showed a favorable safety profile across all dose levels, with no serious adverse events reported, positioning NTLA-2002 as a potential functional cure for this rare genetic disease.

NTLA-2002 in Adults With Hereditary Angioedema (HAE)

NCT05120830Active, Not RecruitingPhase 1
Intellia Therapeutics
Posted 12/10/2021

Atsena Therapeutics Reports Promising Results for XLRS Gene Therapy Using Novel Spreading Capsid

Rare Disease
  • Atsena Therapeutics' ATSN-201 gene therapy showed positive safety and early efficacy in the first cohort of XLRS patients, with two of three patients experiencing extensive schisis resolution beginning at 8 weeks post-treatment.
  • The trial demonstrated clinical validation of AAV.SPR's ability to spread laterally beyond subretinal injection sites, achieving therapeutic effects without requiring risky foveal detachment procedures.
  • Functional improvements were observed using microperimetry, with one patient showing improvements up to 14 dB and 38 loci improving by more than 7 dB, exceeding the FDA's threshold for clinical significance.

ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis

NCT05878860RecruitingPhase 1
Atsena Therapeutics Inc.
Posted 8/22/2023

FDA Approves Pfizer's $3.5 Million Gene Therapy Beqvez for Hemophilia B Treatment

Drug ApprovalRare Disease
  • The FDA approved Pfizer's Beqvez, a one-time gene therapy for adults with moderate to severe hemophilia B, marking the company's first gene therapy approval in the U.S.
  • The treatment carries a $3.5 million price tag before insurance and rebates, making it one of the most expensive drugs in the United States.
  • Beqvez enables patients to produce factor IX protein themselves, potentially eliminating the need for regular intravenous infusions administered multiple times per week or month.
  • The therapy will compete with CSL Behring's Hemgenix, another gene therapy for hemophilia B approved in 2022 with a similar $3.5 million price point.

Vicore's Buloxibutid Shows Promising Lung Function Improvement in Phase 2a IPF Trial

Rare Disease
  • Vicore Pharma's buloxibutid demonstrated significant lung function improvement in IPF patients, with an average FVC increase of 216ml over 36 weeks compared to the typical 180ml decline in untreated patients.
  • The angiotensin II type 2 receptor agonist was well-tolerated with no new drug-related adverse events reported during the 26-week treatment period, suggesting a favorable safety profile.
  • Final data from the Phase 2a AIR trial will be presented as a late-breaking presentation at the 2024 American Thoracic Society International Conference, with Vicore planning to advance to a Phase 2b ASPIRE trial.

Global Phase 3 Trial Tests Efzofitimod as Steroid-Sparing Treatment for Sarcoidosis

Rare Disease
  • Royal Papworth Hospital is participating in the world's first advanced phase global trial for sarcoidosis, testing if the protein efzofitimod can reduce steroid dependence in patients.
  • Sarcoidosis affects approximately 7,000 people in the UK, typically younger adults in their 30s and 40s, causing granulomas to form in the lungs and potentially other organs.
  • The trial involves about 200 patients across Europe, North America, and Asia, aiming to improve quality of life by reducing long-term steroid side effects like weight gain, diabetes risk, and bone weakness.

FDA Analysis Reveals Decade of Growth in Rare Pediatric Disease Drug Development Through Priority Review Voucher Program

Rare DiseaseFDA Approval
  • The FDA's Rare Pediatric Disease Priority Review Voucher program granted 569 designations between 2013-2022, targeting 245 unique rare pediatric diseases across neurology, metabolism, and oncology therapeutic areas.
  • Gene therapies comprised 28% of all designations, reflecting the genetic nature of most rare diseases, while 38% of designations were supported by clinical data indicating advanced development stages.
  • The program awarded 38 priority review vouchers worth approximately $100 million each, providing crucial non-dilutive funding to rare disease drug developers.
  • A five-fold surge in designations occurred in 2020 when the program was set to expire, highlighting the uncertainty created by periodic reauthorization requirements.

FDA Grants Orphan Drug Designation to Tigilanol Tiglate for Soft Tissue Sarcoma Treatment

Rare DiseaseOncology
  • The FDA has awarded orphan drug designation to tigilanol tiglate (Stelfonta), an intratumoral injection, for treating soft tissue sarcoma, a rare cancer affecting both adults and children.
  • The designation provides QBiotics with important regulatory incentives including tax credits, user fee exemptions, and potential seven years of market exclusivity following approval.
  • Tigilanol tiglate is currently being evaluated in a phase 2 trial at Memorial Sloan Kettering Cancer Center, with preliminary phase 1 data showing responses in 6 of 22 patients.
  • Soft tissue sarcomas comprise more than 80 subtypes with unfavorable prognosis in advanced stages, highlighting the urgent need for new treatment options in this rare disease area.

A Clinical Study to Investigate the Efficacy of Intratumoral Tigilanol Tiglate in Soft Tissue Sarcoma

NCT05755113RecruitingPhase 2
QBiotics Group Limited
Posted 4/13/2023

Novartis Secures $1.3 Billion Deal with Chong Kun Dang for HDAC6 Inhibitor Targeting CMT Disease

Orphan DrugRare Disease
  • Novartis has signed a $1.3 billion licensing agreement with Korean biotech Chong Kun Dang Pharmaceutical for CKD-510, an HDAC6 inhibitor with FDA orphan drug designation for Charcot-Marie-Tooth disease.
  • The deal includes an $80 million upfront payment plus $1.2 billion in potential milestone payments, with Novartis gaining exclusive global rights to develop and commercialize the drug outside Korea.
  • This acquisition follows Novartis' recent procurement of DTX-1252, another CMT1A therapeutic candidate, signaling the company's strategic expansion into rare neurological disease treatments.

UK Approves World's First CRISPR Gene Therapy for Sickle Cell Disease and β-Thalassemia

Drug ApprovalRare Disease
  • The UK has made a landmark decision to approve the world's first CRISPR-based gene therapy, developed by Vertex Pharmaceuticals, for treating sickle cell disease and β-thalassemia.
  • This one-time treatment offers potential transformation of patient lives by addressing the genetic root cause of these blood disorders, marking a historic milestone in gene editing technology.
  • Despite its therapeutic promise, concerns remain about the high cost of the treatment and questions about accessibility for patients in need, particularly in regions with high disease prevalence.

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

Elafibranor Shows Significant Efficacy in Phase III Trial for Primary Biliary Cholangitis

Rare Disease
  • Ipsen and GENFIT's Phase III ELATIVE trial demonstrated that elafibranor achieved a 47% placebo-adjusted difference in biochemical response rates, with 51% of patients on elafibranor versus 4% on placebo meeting the primary endpoint.
  • Only patients receiving elafibranor achieved alkaline phosphatase normalization at 52 weeks (15% vs 0% placebo), with rapid ALP reductions observed as early as week 4 and sustained throughout the study.
  • The dual PPAR α,δ agonist showed potential for improving pruritus symptoms and was well-tolerated, with data supporting regulatory submissions worldwide for this rare autoimmune liver disease.

Study of Elafibranor in Patients With Primary Biliary Cholangitis (PBC)

NCT04526665Active, Not RecruitingPhase 3
Ipsen
Posted 9/24/2020

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