Rare Disease Video Recap—December 18, 2025

This biweekly Rare Disease Video Recap highlights the most significant approvals, regulatory actions, and clinical developments shaping the sector.

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Transcript

Welcome to the latest edition of Rare Diseases Updates, covering breakthroughs in the past two weeks. Brought to you by LucidQuest.

In this edition, we bring you important updates from the world of rare disease treatments, new approvals, and regulatory changes impacting patients and the healthcare industry.

Novartis has received FDA approval for Ianalumab in immune thrombocytopenia (ITP). This new therapy offers patients better disease control with just four once-monthly doses. In clinical trials, Ianalumab extended disease control by 45% compared to placebo. This marks a significant advancement in ITP treatment, reducing the need for long-term therapy options and improving patient outcomes.

In the UK, the BioIndustry Association (BIA) is calling for a new pathway to improve patient access to innovative rare disease medicines. The BIA advocates for reforms to the National Institute for Health and Care Excellence (NICE) and the Early Access to Medicines Scheme. These changes would ensure quicker access to treatments, reversing the trend of declining UK access to cutting-edge therapies for rare diseases.

In the United States, the National Organization for Rare Disorders (NORD) is urging Congress to swiftly reauthorize the Rare Pediatric Disease Voucher Program. This program has been crucial in accelerating the development of treatments for rare pediatric diseases, with 47 diseases having benefited from it, 43 of which previously had no treatments. A delay in reauthorization could disrupt the pipeline for these essential therapies.

The FDA has approved Waskyra, the first gene therapy for Wiskott-Aldrich Syndrome (WAS), a rare immunodeficiency disorder. Waskyra has demonstrated a remarkable ability to reduce severe infections by 93% and moderate bleeding by 60%. This approval provides a new, potentially life-saving treatment option for patients suffering from this genetic disorder.

argenx has announced the discontinuation of its Phase 3 UplighTED trials for efgartigimod in thyroid eye disease (TED) after a futility analysis. The trials, which aimed to assess the therapy’s effectiveness, showed no significant benefit, leading to the decision to halt the studies. Despite this setback, the therapy demonstrated a favorable safety profile, and further analysis of the data will be conducted.

Amgen’s UPLIZNA® (inebilizumab-cdon) has received FDA approval for the treatment of generalized myasthenia gravis (gMG), a rare autoimmune disease. UPLIZNA offers a twice-yearly dosing regimen, providing a new treatment option for patients after the initial loading doses. This approval marks a significant step forward in the treatment of gMG, potentially improving disease management and reducing treatment burden for patients.

UCB has presented positive results from the GEMZ Phase 3 study for fenfluramine in CDKL5 deficiency disorder (CDD), an ultra-rare disease. The study showed significant reductions in seizure frequency and improved outcomes for patients. These promising results pave the way for regulatory submissions and could lead to a new treatment option for CDD patients.

Lastly, in the United States, the Kennedy administration has approved the addition of Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) to the national newborn screening panel. Early detection of these severe, rare conditions will allow for timely interventions and significantly improve long-term outcomes for affected infants.

Regulatory consistency remains a critical concern in the rare disease sector. The demand for clearer guidelines from the FDA continues to grow, and these recent developments highlight the ongoing advancements in rare disease therapies through clinical trials, regulatory approvals, and collaborative efforts aimed at improving patient outcomes.

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Why it Matters

Regulatory consistency remains a key concern in the rare disease sector, with a growing demand for clearer guidelines from the FDA. These recent developments signal a continued focus on rare diseases, with promising new therapies being advanced through clinical trials, regulatory approvals, and collaborative efforts aimed at improving patient outcomes.

🗓️ Explore weekly details and sources

Week 4–10 November 2025
Week 11–17 December 2025

📚 Find your one-stop page for the full Rare Disease archive.

FAQ

What is the current state of regulatory consistency in rare disease approvals?

Experts argue that the FDA’s approach to rare disease treatments needs more consistency, as some treatments are approved while others face rejection despite similar clinical data.

How does Novartis’ Ianalumab improve treatment for ITP?

Ianalumab, when combined with eltrombopag, significantly extends disease control in ITP patients, reducing the need for long-term therapy and offering a new treatment option.

Why is the reauthorization of the Rare Pediatric Disease Voucher Program urgent?

NORD emphasizes the program’s critical role in accelerating treatments for rare pediatric diseases, urging Congress to act quickly to prevent disruptions in development.

What does FDA approval of Waskyra mean for Wiskott-Aldrich Syndrome patients?

Waskyra offers a breakthrough gene therapy for WAS, significantly reducing infections and bleeding events, providing hope for patients with this rare immune disorder.

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.

Entities / Keywords

Novartis; Ianalumab; immune thrombocytopenia; BIA; rare disease medicines; UK access; NORD; Rare Pediatric Disease Voucher Program; rare disease; Waskyra; Wiskott-Aldrich syndrome; gene therapy; argenx; efgartigimod; thyroid eye disease; TED; Amgen; UPLIZNA®; generalized myasthenia gravis; gMG; UCB; GEMZ study; CDKL5 deficiency disorder; fenfluramine; gene therapy

References

https://www.novartis.com/news/media-releases/novartis-ianalumab-significantly-extends-disease-control-patients-immune-thrombocytopenia-only-four-once-monthly-doses
https://www.bioindustry.org/resource/bia-calls-for-new-pathway-to-give-uk-patients-access-to-innovative-rare-disease-medicines.html
https://www.prnewswire.com/news-releases/americas-rare-children-need-congress-to-act-nord-urges-swift-reauthorization-of-proven-rare-pediatric-disease-voucher-program-302633428.html
https://firstwordpharma.com/story/6737273
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://www.reuters.com/business/healthcare-pharmaceuticals/kennedy-approves-adding-two-rare-disorders-newborn-screenings-2025-12-16/