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Actio Biosciences Raises $66M Series B to Advance Rare Disease Programs Targeting Ion Channel Disorders

Rare DiseaseOrphan DrugPrecision Medicine
  • Actio Biosciences secured $66 million in Series B funding co-led by Regeneron Ventures and Deerfield Management to advance two lead programs targeting rare genetic diseases.
  • The company's most advanced program, ABS-0871, is currently in Phase 1 trials for Charcot-Marie-Tooth disease type 2C, with potential expansion to overactive bladder treatment.
  • ABS-1230, targeting KCNT1-related epilepsy affecting approximately 2,500 individuals in the U.S., received FDA rare pediatric and orphan drug designations and is expected to enter Phase 1 trials in late 2025.
  • The company's "inclusive precision medicine" approach aims to develop treatments that address multiple mutations within the same genetic pathway, potentially benefiting broader patient populations.

Senate Republicans Drop Orphan Drug Exemptions from Trump Tax Bill, Dealing Blow to Rare Disease Drug Development

Rare Disease
  • Senate Republicans excluded the Orphan Cures Act from their version of Trump's "One Big Beautiful Bill Act," removing provisions that would have exempted multi-indication orphan drugs from Medicare price negotiations.
  • The bipartisan Orphan Cures Act aimed to address concerns that current Inflation Reduction Act provisions discourage rare disease drug development, with data showing a 48% drop in drugs receiving second orphan designations post-IRA.
  • Patient advocacy groups celebrated the Senate's decision, arguing the act was an industry attempt to evade necessary drug price negotiations and maintain lower costs for Medicare beneficiaries.
  • The Senate's departure from the House version indicates further legislative revisions are likely before Republicans' July 4 target deadline for final passage.

Quilt Health Secures $6M Seed Funding to Modernize Clinical Trial Access for Complex Diseases

AIRare Disease
  • Quilt Health, a digital health company focused on bridging treatment access gaps for complex diseases, successfully closed a $6 million seed funding round, bringing total funding to $8 million.
  • The company addresses critical clinical trial recruitment challenges, with more than 70% of trials failing to meet enrollment thresholds, particularly in rare disease research where patient pools are small and hard to reach.
  • Quilt Health's AI-powered platform integrates multiple data sources to surface key patient characteristics and outcomes, supporting clinical workflows and improving trial efficiency for pharmaceutical sponsors, research sites, and patients.
  • The company recently partnered with the National Alliance of Sickle Cell Centers (NASCC), providing access to a national network of more than 115 sickle cell centers to combine research and patient care.

Foresee Pharmaceuticals Completes Enrollment in Phase 3 Trial for Central Precocious Puberty Treatment

Rare Disease
  • Foresee Pharmaceuticals has completed enrollment in its Phase 3 Casppian trial evaluating leuprolide mesylate (FP-001) 42 mg controlled-release for central precocious puberty treatment.
  • The 48-week multicenter study aims to achieve ≥80% LH suppression in pediatric patients, with topline results expected by end of 2025.
  • Central precocious puberty affects 1 in 5,000 to 10,000 children and can lead to short adult stature and psychological complications.
  • The company plans to submit a New Drug Application to regulatory authorities by Q3 2026 following successful study completion.

Tisento Therapeutics Receives FDA Fast Track Designation for Zagociguat in MELAS Treatment

Rare Disease
  • The U.S. FDA has granted Fast Track designation to zagociguat for treating MELAS, a rare mitochondrial disease with no approved treatments.
  • Zagociguat is a first-in-class, brain-penetrant soluble guanylate cyclase stimulator that showed improvements in neuronal function and brain blood flow in Phase 2a studies.
  • The global Phase 2b PRIZM study is currently enrolling approximately 44 participants across multiple countries to evaluate zagociguat's efficacy and safety.
  • MELAS causes severe symptoms including chronic fatigue, cognitive dysfunction, muscle weakness, and stroke-like episodes, leading to reduced quality of life and shortened life expectancy.

A Phase 2b Study of Zagociguat in Patients With MELAS

NCT06402123RecruitingPhase 2
Tisento Therapeutics
Posted 9/10/2024

Qureight's AI-Powered Synthetic Control Arms Validate Efficacy of Avalyn's Inhaled Pirfenidone for Rare Lung Disease

AIRare Disease
  • Qureight achieved a world-first breakthrough by using AI-powered synthetic control arms to replace human placebo groups in lung disease research, demonstrating significant clinical efficacy for Avalyn's inhaled pirfenidone (AP01) in treating idiopathic pulmonary fibrosis.
  • The innovative approach generated over 10,000 randomly sampled control groups from real-world IPF patient data, with results showing statistically significant reduction in lung capacity decline over 48 weeks compared to the 100mg AP01 dose.
  • This groundbreaking methodology addresses critical ethical and practical challenges in rare disease trials by reducing study costs, duration, and the need for placebo assignments in high-mortality conditions like IPF.
  • The technology leverages deep-learning analytics and quantitative image analysis to create digitally-twinned synthetic controls that more closely match treated patients' baseline disease states than traditional randomized placebo comparisons.

FDA Approves CSL's ANDEMBRY for Hereditary Angioedema Prevention with Novel Factor XIIa Targeting

Drug ApprovalMonoclonal AntibodyRare Disease
  • The FDA approved ANDEMBRY (garadacimab-gxii), the first and only prophylactic HAE treatment targeting factor XIIa, offering once-monthly dosing for patients 12 years and older.
  • Phase 3 VANGUARD trial data showed ANDEMBRY reduced HAE attacks by a median of more than 99% and a least squares mean of 89.2% compared to placebo, with 62% of patients remaining attack-free.
  • ANDEMBRY represents a breakthrough approach by inhibiting the top of the HAE cascade through factor XIIa targeting, providing sustained protection with convenient subcutaneous self-injection in 15 seconds or less.
  • CSL will launch ANDEMBRY commercially immediately with availability before the end of June, expanding treatment options for the approximately 1 in 50,000 people affected by this rare genetic disorder.

CSL312 (Garadacimab) in the Prevention of Hereditary Angioedema Attacks

NCT04656418CompletedPhase 3
CSL Behring
Posted 1/27/2021

First Patient Treated with Novel B-Cell Targeting Therapy for Myasthenia Gravis in Phase III Trial

Rare Disease
  • The first patient worldwide has been treated with Remibrutinib, a novel B-cell targeting therapy for Myasthenia Gravis, marking the start of an international Phase III clinical trial at HonorHealth Research Institute.
  • This represents the first time a drug has targeted B cells in Myasthenia Gravis treatment, offering a new mechanism of action that blocks a different part of the neuro-muscular-junction pathway than existing therapies.
  • The rare autoimmune disease affects fewer than 200 people per million, causing muscle weakness symptoms that severely impact daily activities like brushing teeth and getting dressed.
  • If successful, the trial could lead to FDA approval for Remibrutinib in Myasthenia Gravis, with the drug already approved for certain cancer types.

Intellia's CRISPR Gene Therapy Shows 98% Reduction in HAE Attacks After Three Years

Gene EditingOrphan DrugRare Disease
  • Intellia Therapeutics reported three-year follow-up data showing lonvoguran ziclumeran achieved a 98% mean reduction in monthly hereditary angioedema attack rates across all 10 Phase 1 patients.
  • All patients remained attack-free and treatment-free for a median of 23 months, demonstrating the potential for lonvo-z to become the first one-time therapy for HAE patients.
  • The company's Phase 3 HAELO trial completed screening ahead of schedule, with results expected in the first half of 2026 and a planned U.S. launch in 2027.
  • The CRISPR-based therapy targets the KLKB1 gene to prevent HAE attacks and has received multiple regulatory designations including FDA Orphan Drug and RMAT status.

HAELO: A Phase 3 Study to Evaluate NTLA-2002 in Participants With Hereditary Angioedema (HAE)

NCT06634420Active, Not RecruitingPhase 3
Intellia Therapeutics
Posted 1/15/2025

NTLA-2002 in Adults With Hereditary Angioedema (HAE)

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

FDA Delays Sebetralstat Approval Decision for Hereditary Angioedema Treatment Due to Resource Constraints

Drug ApprovalRare Disease
  • The FDA will not meet the June 17, 2025 PDUFA goal date for KalVista's sebetralstat NDA due to heavy workload and limited resources, with a decision expected within four weeks.
  • Sebetralstat represents a potential breakthrough as the first oral on-demand treatment for hereditary angioedema attacks in patients aged 12 and older.
  • The FDA has not requested additional data or raised safety concerns, with only labeling finalization remaining under review according to KalVista.
  • The delay affects patients with hereditary angioedema who currently rely on intravenous or subcutaneous treatments for managing painful and potentially life-threatening attacks.

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