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SynaptixBio Secures Second FDA Orphan Drug Designation for TUBB4A Leukodystrophy Variant

Rare Disease
  • SynaptixBio received its second FDA Orphan Drug Designation for developing therapies targeting Isolated Hypomyelination, a variant of TUBB4A leukodystrophy with reportedly milder symptoms than H-ABC.
  • The company is using antisense oligonucleotide technology to target mutated TUBB4A genes that form toxic proteins, preventing normal myelin formation in brain nerve fibers.
  • SynaptixBio has extended its collaboration with Evotec to broaden the pipeline with additional ASO candidates for treating H-ABC, the most severe form of TUBB4A leukodystrophy.
  • The company secured £13.2 million in total funding to advance toward in-human clinical trials later this year, supported by a £490,000 BioMedical Catalyst grant from Innovate UK.

Amylyx Acquires Phase 3-Ready GLP-1 Receptor Antagonist Avexitide for Hyperinsulinemic Hypoglycemia

Rare Disease
  • Amylyx Pharmaceuticals acquired avexitide from Eiger BioPharmaceuticals for $35.1 million, gaining a first-in-class GLP-1 receptor antagonist with FDA Breakthrough Therapy Designation for post-bariatric hypoglycemia and congenital hyperinsulinism.
  • Phase 2 trials demonstrated avexitide's ability to reduce hypoglycemic events by up to 75% in post-bariatric hypoglycemia patients, with significant improvements in glucose stability and time spent in hypoglycemia.
  • The company plans to initiate a Phase 3 clinical trial for post-bariatric hypoglycemia in Q1 2025, targeting an estimated 160,000 Americans living with this debilitating condition.
  • Avexitide addresses a critical unmet medical need as no approved treatments currently exist for hyperinsulinemic hypoglycemia, which can cause severe complications including seizures and loss of consciousness.

EMA Grants Orphan Designations for Rare Disease Treatments in Pulmonary Fibrosis and B-Cell Lymphoma

Rare Disease
  • The European Medicines Agency granted orphan designation to a medicine for treating idiopathic pulmonary fibrosis on December 13, 2023, providing regulatory support for development.
  • A second orphan designation was awarded on July 25, 2024, for treatment of primary large B-cell lymphoma of immune-privileged sites.
  • Both designations enable developers to receive scientific and regulatory guidance from EMA while advancing toward marketing authorization applications.
  • The orphan designations do not constitute approval for patient use, as all medicines must undergo full authorization before becoming available in the EU.

New Zealand Patient Becomes First Globally to Receive Gene Therapy for Facioscapulohumeral Muscular Dystrophy

Rare Disease
  • A New Zealand patient has become the first person worldwide to receive ARO-DUX4, a revolutionary gene therapy that silences the DUX4 gene responsible for facioscapulohumeral muscular dystrophy (FSHD).
  • The phase 1 trial will test the therapy in 16 patients across four dose-escalation groups, with participants monitored for 90 days before advancing to larger randomized controlled trials.
  • Concurrent results from another University of Auckland-led gene therapy trial for myotonic dystrophy show promising outcomes, with patients demonstrating increased strength and correction of underlying disease mechanisms.
  • These genetic therapies represent a transformative approach to treating rare neuromuscular disorders, targeting specific disease-causing genes with minimal off-target effects.

ENCell's Mesenchymal Stem Cell Therapy Shows Promise in First-in-Human Trial for Charcot-Marie-Tooth Disease

Rare Disease
  • ENCell's Phase 1 trial of EN001 mesenchymal stem cell therapy demonstrated safety with no dose-limiting toxicity or serious adverse events in nine CMT1A patients over 16 weeks.
  • The Charcot-Marie-Tooth Neuropathy Score version 2 decreased by an average of 2.89 points (p=0.0039), with high-dose patients showing a 3.50-point reduction (p=0.0313).
  • High-dose patients experienced clinical improvements in disease severity, with some patients moving from severe to moderate or moderate to mild categories.
  • The results provide hope for CMT1A patients who currently lack approved therapies, with ENCell planning repeat-administration trials at Samsung Medical Center.

Riliprubart Shows Promise as First-in-Class Treatment for Chronic Inflammatory Demyelinating Polyneuropathy

Rare DiseaseNeurologyMonoclonal Antibody
  • Sanofi's riliprubart demonstrated significant disease-controlling benefits across all patient cohorts in a Phase 2 study for chronic inflammatory demyelinating polyneuropathy (CIDP), including those who failed standard treatments.
  • The complement C1s inhibitor showed sustained efficacy for up to 48 weeks, with 87-92% of participants experiencing improvement or disease stabilization after 24 weeks of treatment.
  • Riliprubart reduced neurofilament light chain levels by 35% across all cohorts, suggesting potential reduction in nerve damage, while also improving patient-reported fatigue and quality of life outcomes.

A Study to Test the Effects and Safety of Riliprubart in People With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) for Which the Usual Treatments do Not Work

NCT06290128RecruitingPhase 3
Sanofi
Posted 7/12/2024

A Study to Test the Efficacy and Safety of Riliprubart Against the Usual Treatment of Intravenous Immunoglobulin (IVIg) in People With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

NCT06290141RecruitingPhase 3
Sanofi
Posted 8/21/2024

FDA Extends Review Timeline for REGENXBIO's Hunter Syndrome Gene Therapy RGX-121

Rare DiseaseOrphan Drug
  • The FDA has extended the review timeline for REGENXBIO's RGX-121 gene therapy for Hunter syndrome, pushing the PDUFA goal date from November 9, 2025 to February 8, 2026.
  • The extension follows REGENXBIO's submission of positive 12-month clinical data for all 13 patients in the pivotal study in response to an FDA information request.
  • RGX-121 would be the first and only potential one-time commercially-available therapy designed to directly address the underlying genetic cause of Hunter syndrome if approved.
  • The FDA completed pre-license and bioresearch monitoring inspections in August 2025 with no observations and has raised no safety-related concerns during the BLA review.

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.

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