This week’s rare disease update spotlights key developments, regulatory milestones, and the latest progress shaping the biopharma landscape.
In Today’s Newsletter
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In Today’s Newsletter
🧬 argenx Discontinues UplighTED Studies for Thyroid Eye Disease [15 Dec 2025 | US/EU]
https://argenx.com/news/2025/press-release-3205093
Context: Argenx has announced the discontinuation of its Phase 3 UplighTED trials for efgartigimod in thyroid eye disease (TED) after a futility analysis. Despite the setback, the therapy showed a favorable safety profile.
Key point: The futility analysis led to the decision to stop the trials. No new safety signals were found, and the company plans to conduct further analysis of the data.
Implication: This may influence ongoing treatment approaches for TED and highlights the importance of adaptive trial designs.
🧠 FDA Approves UPLIZNA® for Generalized Myasthenia Gravis [12 Dec 2025 | US]
Context: The FDA has approved Amgen’s UPLIZNA® (inebilizumab-cdon) for treating generalized myasthenia gravis (gMG), a chronic, rare autoimmune disease.
Key point: UPLIZNA offers a twice-yearly dosing regimen, providing patients with a new treatment option after the initial loading doses.
Implication: This approval is a major step for gMG treatment, potentially improving disease management and reducing the treatment burden for patients.
🧪 UCB Presents Positive Results from GEMZ Study for CDKL5 Deficiency Disorder [8 Dec 2025 | US]
Context: UCB’s GEMZ Phase 3 study of fenfluramine for CDKL5 deficiency disorder (CDD) showed promising efficacy, including significant reductions in seizure frequency.
Key point: The therapy demonstrated a marked reduction in countable motor seizure frequency (CMSF) and improved patient outcomes.
Implication: With CDD being an ultra-rare disease, these results could pave the way for regulatory submissions and a potential new treatment option for patients.
🧬 Kyverna Therapeutics Reports Breakthrough Data for miv-cel in Stiff Person Syndrome [15 Dec 2025 | US]
Context: Kyverna’s miv-cel (KYV-101), a CAR T-cell therapy, demonstrated significant clinical improvement in patients with stiff person syndrome (SPS), a rare autoimmune disorder.
Key point: miv-cel showed a robust improvement in mobility and disability, with patients remaining free of immunotherapies.
Implication: These positive results support Kyverna’s plan to submit a Biologics License Application (BLA) for miv-cel in the first half of 2026.
🤝 Telethon & OTXL Collaborate on Gene Therapy for Wiskott-Aldrich Syndrome [15 Dec 2025 | US/EU]
Context: Fondazione Telethon and Orphan Therapeutics Accelerator (OTXL) have partnered to commercialize a newly approved gene therapy for Wiskott-Aldrich syndrome in the US.
Key point: This partnership represents the first non-profit-driven commercialization of gene therapy, aiming to ensure access to therapies for ultra-rare diseases.
Implication: The collaboration could reshape the landscape of rare disease treatment access and distribution, especially for diseases with small patient populations.
🧯 Kennedy Approves DMD and MLD for Newborn Screening [16 Dec 2025 | US]
Context: The U.S. Health Secretary has added Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) to the national newborn screening panel.
Key point: Early detection of these diseases will allow for timely interventions, improving long-term outcomes and patient quality of life.
Implication: This decision may lead to earlier diagnoses and faster access to life-changing treatments for infants diagnosed with these severe, rare conditions.
🧬 Cure Rare Disease Awarded $7.4 Million CIRM Grant for Gene Therapy in LGMD2i/R9 [15 Dec 2025 | US]
Context: Cure Rare Disease has received a $7.4 million grant from the California Institute for Regenerative Medicine (CIRM) to support the development of a gene therapy for Limb-Girdle Muscular Dystrophy Type 2i/R9 (LGMD2i/R9).
Key point: The grant will fund the advancement of gene therapy for this rare neuromuscular disorder, including late-stage preclinical development and regulatory steps.
Implication: This support is a significant step toward bringing new treatment options to patients suffering from this progressive condition.
🌟 Chiesi Global Announces Elfabrio® Approval for Fabry Disease in Canada [16 Dec 2025 | Canada]
Context: Elfabrio® (pegunigalsidase alfa) has been approved by Health Canada for the treatment of Fabry disease, offering a new therapy for this rare, genetic condition.
Key point: The approval of Elfabrio provides a new option for Canadians with Fabry disease, expanding access to treatments that have been transformative in other markets.
Implication: This approval will likely improve outcomes for patients in Canada, helping to manage symptoms and slow disease progression.
Why it Matters
- Regulatory progress continues to expand access in rare diseases, with FDA and Health Canada approvals and upcoming BLA submissions across gMG, Fabry disease, and stiff person syndrome [2,4,8].
- Trial readouts highlight both momentum and risk, as positive Phase 3 data in CDKL5 deficiency disorder contrasts with the discontinuation of a Phase 3 program in thyroid eye disease [1,3].
- Gene and cell therapies remain a key focus, driven by CAR T-cell data in stiff person syndrome and new gene therapy efforts in Wiskott-Aldrich syndrome and LGMD2i/R9 [4,5,7].
- Policy actions are improving early detection, with DMD and MLD added to the U.S. newborn screening panel [6].
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FAQ
What routes of administration were used in Argenx’s TED study?
Argenx’s efgartigimod was administered via subcutaneous injection, and the study was stopped following a futility analysis.
What is UPLIZNA® and what new treatment does it provide for gMG patients?
UPLIZNA® is a twice-yearly, targeted treatment for generalized myasthenia gravis (gMG) that can offer long-term disease control.
What did Telethon and OTXL partner to achieve?
The partnership aims to bring a gene therapy for Wiskott-Aldrich syndrome to the U.S., offering a new non-profit commercialization model for ultra-rare diseases.
How is Cure Rare Disease advancing gene therapy for LGMD2i/R9?
The $7.4 million CIRM grant will fund the development of a novel gene therapy for Limb-Girdle Muscular Dystrophy Type 2i/R9, targeting a rare neuromuscular disorder.
Entities / Keywords
argenx; efgartigimod; thyroid eye disease; TED. Amgen; UPLIZNA®; generalized myasthenia gravis; gMG. UCB; GEMZ study; CDKL5 deficiency disorder; fenfluramine. Kyverna Therapeutics; miv-cel; stiff person syndrome; CAR T-cell therapy. Telethon; Orphan Therapeutics Accelerator; Wiskott-Aldrich syndrome; gene therapy. Cure Rare Disease; Limb-Girdle Muscular Dystrophy Type 2i/R9; CIRM grant. Chiesi Global; Elfabrio®; Fabry disease; Health Canada.
References
- https://argenx.com/news/2025/press-release-3205093
- https://investors.amgen.com/news-releases/news-release-details/fda-approves-upliznar-adults-generalized-myasthenia-gravis
- https://www.prnewswire.com/news-releases/ucb-presents-positive-results-from-gemz-phase-3-study-at-aes-showing-fenfluramine-significantly-reduced-countable-motor-seizure-frequency-in-cdkl5-deficiency-disorder-302633492.html
- https://ir.kyvernatx.com/news-releases/news-release-details/kyverna-therapeutics-announces-positive-topline-data
- https://www.prnewswire.com/news-releases/fondazione-telethon-and-orphan-therapeutics-accelerator-sign-memorandum-of-understanding-to-pioneer-non-profit-commercial-access-model-for-ultra-rare-disease-gene-therapy-in-the-us-302642233.html
- https://www.businesswire.com/news/home/20251215136129/en/Cure-Rare-Disease-Awarded-%247.4-Million-CIRM-Grant-to-Advance-Gene-Therapy-for-Limb-Girdle-Muscular-Dystrophy-Type-2iR9
- https://www.globenewswire.com/news-release/2025/12/16/3206235/0/en/Chiesi-Global-Rare-Diseases-Announces-Health-Canada-Approval-of-Elfabrio-pegunigalsidase-alfa-for-Fabry-Disease.html