Category: Rare diseases

Affecting millions worldwide, lysosomal storage disorders are rare genetic conditions caused by the accumulation of metabolic substrates within cells. The oral medication miglustat was developed to treat these conditions by tackling the root cause of the buildup, offering a versatile therapeutic approach.

In September 2023, the FDA approved Rivfloza® (nedosiran), marking a significant milestone for patients with primary hyperoxaluria type 1 (PH1), a rare genetic disorder characterized by excessive oxalate production. As an innovative RNA interference (RNAi) therapy, Rivfloza works to reduce the burden of oxalate by targeting the source of its overproduction in the liver.

With a list price of $4.25 million per dose, Lenmeldy became the most expensive prescription drug on the market after its FDA approval in early 2024. This staggering figure highlights how recent breakthroughs in gene therapy are redefining what is the most expensive prescription drug and sparking critical discussions about access and cost.

Affecting an estimated one in ten Americans, there are more than 7,000 rare diseases, and for these patients, an orphan drug provides a critical, often life-saving, treatment option. Historically, the small patient populations for these conditions made drug development financially unviable, leading to a significant gap in treatment options.

In 2024, the global orphan drug market reached an estimated revenue of nearly $190 billion, illustrating the significant financial impact of these medications. This success raises the question: **What is the highest grossing orphan drug?** The answer is more complex than it appears, as many top sellers have expanded indications far beyond their initial orphan status.

Over 7,000 rare diseases collectively affect more than 30 million Americans, yet historically, most have had no approved treatment. Orphan drugs are specialized medications developed to treat, prevent, or diagnose these rare conditions, addressing a critical, unmet medical need.

Annual costs for alpha-1 antitrypsin (AAT) augmentation therapy can be substantial, with some insurer costs exceeding $80,000 to $100,000 per year. Understanding **what is the price of alpha 1 antitrypsin injection?** is a complex matter, as the final cost depends on various medical and financial variables for each patient.

In a significant development for the rare disease community, the FDA approved the first-ever treatment for Friedreich's ataxia in early 2023, offering a major breakthrough after years with no disease-specific drugs. This milestone, along with other promising therapies currently under review, provides a clearer answer to the question, "What is the new medicine for ataxia?" and fuels optimism for future treatments across various forms of this debilitating condition.

Over 400 different genetic mutations have been identified that can lead to a deficiency of glucocerebrosidase, causing the lysosomal storage disorder known as Gaucher disease. This inherited condition prevents the body from properly breaking down a fatty substance called glucocerebroside, leading to its accumulation in cells and causing a wide range of health problems.

With more than 7,000 rare diseases known worldwide, affecting an estimated 300 million people, Pfizer's focus on what is Pfizer rare disease represents a significant commitment to an area of high unmet medical need. For over thirty years, the company has worked to provide critical treatment options for patients with rare conditions, advancing research across areas like rare hematology, neurology, and cardiology.