As we prepare to celebrate Rare Disease Day and honor those who are living with a rare disease, it’s an opportune moment to reflect on the significant strides made in the space over the past year.
Since this day in 2024, the U.S. Food and Drug Administration (FDA) has approved several groundbreaking therapies, offering hope to patients and families affected by these conditions. Read on for an overview of some of the most notable recent drug and therapy approvals for rare diseases in the U.S.
1. Ctexli for cerebrotendinous xanthomatosis (CTX)
The FDA approved Ctexli (chenodiol) on Feb. 25, 2025, making it the first treatment approved for cerebrotendinous xanthomatosis (CTX) in adults. CTX is a rare lipid storage disorder that impairs the body’s ability to process cholesterol, leading to neurological and systemic complications. Ctexli, an oral form of chenodeoxycholic acid, works by restoring the deficient bile acid, thereby improving cholesterol metabolism. This approval also grants its developer, Mirum Pharmaceuticals, seven years of market exclusivity.
2. Attruby for transthyretin amyloid cardiomyopathy (ATTR-CM)
On Nov. 22, 2024, Attruby (acoramidis) received FDA approval for the treatment of transthyretin amyloid cardiomyopathy (ATTR-CM), a progressive and life-threatening condition characterized by the deposition of amyloid fibrils in cardiac tissue. Acoramidis stabilizes the transthyretin protein, preventing its misfolding and subsequent amyloid formation, thereby slowing disease progression and improving cardiac function.
3. Hympavzi for hemophilia A and B
Hympavzi (marstacimab-hncq) gained FDA approval on Oct. 11, 2024, making it the first once-weekly treatment for hemophilia A or B without inhibitors. Hemophilia is a rare inherited bleeding disorder characterized by the deficiency of clotting factors, leading to excessive bleeding. Hympavzi, an anti-tissue factor pathway inhibitor, is administered via a subcutaneous auto-injector pen, reducing the need for frequent intravenous infusions.
4. Miplyffa for Neimann-Pick disease type C
On Sept. 20, 2024, the FDA approved Miplyffa (arimoclomol) as a novel therapy for Neimann-Pick disease type C, a rare genetic disorder affecting lipid metabolism, leading to neurological and visceral symptoms.
5. Livdelzi for primary biliary cholangitis (PBC)
The FDA granted accelerated approval to Livdelzi (seladelpar) as a treatment for primary biliary cholangitis (PBC), a chronic liver disease characterized by progressive destruction of the bile ducts, on Aug. 14, 2024. Seladelpar is a selective PPAR delta agonist that has demonstrated efficacy in reducing alkaline phosphatase levels, a marker of liver inflammation, thereby providing an alternative therapy for patients who may not respond adequately to existing treatments.
6. Elevidys for Duchenne muscular dystrophy (DMD)
On June 20, 2024, the FDA expanded the approval of Sarepta Therapeutics’ Elevidys (delandistrogene moxeparvovec-rokl), a gene therapy initially authorized in 2023, to include all patients aged four and older with Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease primarily affecting boys. Elevidys, priced at $3.2 million for a one-time treatment, aims to slow disease progression by delivering a functional version of the dystrophin gene. Despite the high cost, this therapy offers a transformative option for patients, marking a significant milestone in gene therapy for neuromuscular diseases.
7. Iqirvo for PBC
The FDA approved Iqirvo (elafibranor) for the treatment of PBC on June 10, 2024. Elafibranor, a dual peroxisome proliferator-activated receptor (PPAR) alpha and delta agonist, works by reducing inflammation and fibrosis in the liver, offering a new therapeutic option for patients with PBC.
8. Xolremdi for WHIM syndrome
The FDA approved Xolremdi (mavorixafor), a therapy for WHIM syndrome (warts, hypogammaglobulinemia, infections and myelokathexis), on April 30, 2024. WHIM syndrome is a rare immunodeficiency disorder, and the newly approved treatment offers hope for managing this complex condition. The therapy was developed by X4 Pharmaceuticals.
9. Duvyzat for DMD
On March 21, 2024, Duvyzat (givinostat) became the first nonsteroidal drug approved for the treatment of Duchenne Muscular Dystrophy (DMD). As a histone deacetylase inhibitor, Givinostat has shown potential in preserving muscle function and slowing disease progression, offering a new therapeutic avenue for DMD patients.
10. Rezdiffra for metabolic dysfunction-associated Steatohepatitis (MASH)
Madrigal Pharmaceuticals’ Rezdiffra (resmetirom) was granted FDA approval on March 14, 2024, for the treatment of metabolic dysfunction-associated steatohepatitis (MASH), also known as nonalcoholic steatohepatitis (NASH), a liver disease characterized by fat accumulation and inflammation, potentially leading to cirrhosis. This approval makes Rezdiffra the first drug approved to treat the disease.
Looking ahead to another year of progress
The past year has included significant progress in the approval of therapies for rare diseases, offering new hope to patients and their families. These advancements reflect the dedication of researchers, clinicians, regulatory bodies and patient advocates working collaboratively to address the unique challenges posed by rare diseases.
As we commemorate Rare Disease Day and celebrate these milestones, we must remain committed to raising awareness and garnering support for patients and their loved ones.
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