Rare Disease Day is marked every year on February 28, a moment to honor the resilience of individuals and families/caregivers affected by rare conditions, spotlight unmet needs and celebrate scientific progress.
The theme for Rare Disease Day 2026, including the FDA’s Rare Disease Day public meeting and NIH panels, is focused on “Moving Forward, Looking Ahead,” centering patient voices and catalyzing innovation in treatments and clinical research.
Rare diseases collectively impact hundreds of millions worldwide, yet individual conditions can be overlooked due to small patient populations. Still, recent years have seen noteworthy progress.
Globally, over 300 million people are living with a rare disease.
This year’s Rare Disease Day video from rarediseaseday.org features individuals sharing their experiences living with a rare disease. They explain some of the challenges they often face in society, including discrimination and judgment.
The organization’s main campaign continues to be “Share Your Colours,” which encourages people affected by rare diseases.
“I have to take care of my conditions while dealing with how others look at me,” one individual says.
Another person explains how he deals with “an educational system that ignores me.”
One individual said he feels the need for “action and access, not apologies.”
But things can be different. The participants highlight some of the changes they would like to see in the rare disease space. “I imagine a brighter future,” one person says. “Where empathy replaces judgement,” says another.
“Where healthcare is inclusive,” and “where no one is left behind.”
The collective message in the video from the participants was that the rare disease community would like to see “more opportunities, more hope, more breakthroughs, more action, more community, more than you can imagine.” And above all, more humanity.
They also encourage people to take part in Rare Disease Day 2026 to raise awareness about rare diseases.
New First-in-Class and First-in-Disease Therapies for Rare Diseases
Rare disease medicines are moving beyond symptom management toward disease-altering therapies. This progress also signals a broader evolution of clinical trial design, regulatory flexibility and therapeutic innovation that will continue to expand hope for rare communities in 2026 and beyond.
Below are some notable approvals, including many firsts, in the rare disease space recently.
Waskyra (etuvetidigene autotemcel): First Gene Therapy for Wiskott-Aldrich Syndrome
Waskyra was the first approved genetic treatment in the US in December 2025 and in the EU in early 2026 for Wiskott-Aldrich syndrome, a rare, life-threatening inherited immune disorder. It uses modified hematopoietic stem cells to restore immune function in patients with a WAS gene mutation. Unlike most gene therapies and medicines in general, which are developed and commercialized by large biotech or pharmaceutical companies, Waskyra was advanced by a rare disease foundation-led model, rather than a traditional for-profit sponsor. Waskyra was developed by Italy-based Fondazione Telethon, the first non-profit organization to obtain FDA approval for a cell-based gene therapy.
Kygevvi: First FDA-Approved Treatment for Thymidine Kinase 2 (TK2) Deficiency
The FDA approval of Kygevvi (doxecitine and doxribtimine) marked a breakthrough for this very rare mitochondrial DNA depletion syndrome, helping improve muscle and respiratory function and offering the first substantial treatment option for many patients. The therapy, developed by UCB, which is headquartered in Brussels, Belgium, is approved for adults and children who develop symptoms before the age of 12. The therapy is the first targeted treatment for the condition, marking a significant advance for patients who previously relied solely on supportive and palliative care. Kygevvi combines two pyrimidine nucleosides, doxecitine and doxribtimine, which work together to restore mitochondrial DNA in skeletal muscle. UCB expects to make Kygevvi available in the US in early 2026.
Ctexli: First Treatment for Cerebrotendinous Xanthomatosis (CTX)
Approved by the FDA in February 2025, Mirum Pharmaceuticals’ Ctexli (chenodiol) treats CTX, a rare lipid storage disorder, by restoring deficient bile acids and improving cholesterol metabolism. It also carries seven years of US market exclusivity. CTX is a rare, progressive genetic disorder caused by mutations in the CYP27A1 gene, which disrupts the liver’s ability to produce the bile acid chenodeoxycholic acid.
Forzinity: First Treatment for Barth Syndrome
Granted accelerated FDA approval in September 2025, Forzinity (elamipretide) addresses Barth syndrome, a rare genetic cardiomyopathy and skeletal myopathy. Barth syndrome is an ultra‑rare, life‑threatening X-linked genetic mitochondrial disorder, primarily affecting males, that previously had no disease‑targeted treatment. It is characterized by dilated cardiomyopathy (weakened heart muscle), neutropenia (low white blood cell count), skeletal myopathy and growth delays. Caused by mutations in the TAZ gene, which disrupt mitochondrial function, leading to serious, often fatal, health issues in infancy. Administered as a once‑daily subcutaneous injection, Forzinity improves mitochondrial structure and function and has been shown to increase muscle strength in patients weighing at least 30 kg, offering a meaningful new option for individuals who previously relied solely on supportive care.
Historic Second Wind for Fabhalta: From Blood Disorder to Rare Kidney Diseases
Novartis’ oral complement inhibitor Fabhalta (iptacopan) has rapidly expanded its impact across multiple rare diseases. Originally approved by the FDA in December 2023 as the first oral monotherapy for adults with the rare blood disorder paroxysmal nocturnal hemoglobinuria (PNH), significantly improving hemoglobin levels and reducing the need for red blood cell transfusions, Fabhalta has since secured additional rare disease approvals. It received accelerated FDA approval in 2024 to reduce proteinuria in adults with primary immunoglobulin A nephropathy (IgAN), a progressive kidney disease where protein loss indicates worsening kidney damage. Most recently, in March 2025, Fabhalta was approved as the first and only targeted treatment for complement 3 glomerulopathy (C3G), offering a disease-specific oral option for this ultra-rare kidney condition that previously lacked approved therapies.
Alhemo Provides Game-Changing Convenience
Novo Nordisk’s Alhemo (concizumab-mtci) was approved in December 2024 to reduce bleeding episodes in pediatric patients 12 years of age and older with hemophilia A with factor VIII inhibitors or hemophilia B with factor IX inhibitors. It was the first once-daily subcutaneous injection approved to prevent or reduce bleeding episodes in individuals aged 12 and older with hemophilia A or B complicated by inhibitors, offering a much more convenient alternative to traditional infusion-based therapies. The FDA expanded Alhemo’s indication in 2025 to include adults and children 12 years and older with hemophilia A or B without inhibitors.
Less Frequent, More Freedom: Qfitlia Approved for Hemophilia A or B
Sanofi’s Qfitlia was approved by the FDA in March 2025 as a routine prophylactic subcutaneous therapy for people aged 12 and older with hemophilia A or B, with or without factor VIII or IX inhibitors, making it a broadly indicated option across the hemophilia spectrum. While Novo’s Alhemo is a once-daily subcutaneous injection for hemophilia A or B (with or without inhibitors), Qfitlia offers a longer-acting alternative, administered once every two months, giving patients even greater convenience and fewer injections while achieving effective prophylaxis across a broad hemophilia population. It works via a novel antithrombin‑lowering mechanism to rebalance clotting and significantly reduce bleeding episodes, and its dosing schedule, as few as six injections per year (once every two months), represents a notable convenience improvement compared with many existing therapies.
New Directions in Rare Disease Clinical Research
Clinical research in rare diseases has historically faced challenges of small patient populations, geographic dispersion and limited access.
But 2026 is seeing real evolution. New clinical trial designs and technologies continue to focus on decentralized and hybrid trial models, which reduce patient burden through remote participation and digital monitoring, and are increasingly used, improving inclusion and retention.
New technologies are being harnessed to enhance trial design, streamline patient identification and optimize recruitment efforts, critical factors in rare disease studies. These innovations not only shorten timelines but also make trials more patient-centric and inclusive.
Regulators and sponsors alike are emphasizing the importance of integrating patient-reported outcomes (PROs) and real-world experiences into trial planning and evaluation, a trend that places lived experience at the center of evidence generation.
Studies in conditions like Friedreich’s ataxia have used video assessments and PROs captured via smartphone apps to improve recruitment and retention, a crucial advantage when patients are widely dispersed geographically.
Digital health technologies (DHTs) such as wearables, sensors and remote monitoring tools are also gaining traction, enhancing data accuracy while increasing factors such as accessibility, agility, awareness and adaptability in trial execution, a model especially valuable for rare diseases where traditional site‑based assessments can limit participation.
Adaptive and Bayesian trial designs are another important evolution. Regulators are encouraging adaptive enrichment, dose selection and sample size reassessment methods that use interim data to modify trials in real time, a useful tool when trial populations are small and unpredictable. The FDA recently released a draft guidance outlining how sponsors can incorporate Bayesian statistical methods to support primary inference on safety and efficacy in clinical trials of drugs and biologics. The document aims to help developers use data more efficiently, for example, by borrowing external information or prior study results, while providing clarity on expectations for pre‑specifying priors, decision rules and simulations to ensure scientifically robust results.
To address the lack of conventional control groups in rare disease research, many trials now employ synthetic or external control arms built from historical natural history cohorts or registry data. This methodology enables robust comparisons without the ethical dilemma of withholding potential benefit from participants in a randomized placebo group.
Cutting‑edge gene therapy and gene‑editing research are also reshaping rare disease trials. For example, the FDA’s flexible regulatory stance on the first approved gene therapy for Wiskott‑Aldrich syndrome (Waskyra) was based on open‑label studies and expanded access programs involving only a few dozen patients. In 2025, a baby with severe CPS1 deficiency received a bespoke CRISPR‑based therapy tailored specifically to his mutation, highlighting continuing trends towards individualized approaches in cases where large trials aren’t possible.
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