Tag: Rare disease treatment

Affecting approximately 1 in every 57,000 people, late-onset Pompe disease is a rare genetic disorder caused by an enzyme deficiency. For many patients, the question, **'What is the drug Nexviazyme used for?'** is crucial. Nexviazyme is an enzyme replacement therapy specifically approved for treating late-onset Pompe disease in patients aged one year and older.

As the first FDA-approved small interfering RNA (siRNA) therapy, Onpattro (patisiran) represents a significant advance in treating hereditary transthyretin-mediated (hATTR) amyloidosis. This groundbreaking medication uses a unique gene-silencing mechanism to address the root cause of the disease, rather than just managing its symptoms.

Over 1,000 disease-causing genetic variants have been identified in the *GLA* gene, leading to the rare inherited disorder known as Fabry disease. A targeted, oral treatment for this condition is **migalastat**, which is used to treat adults with specific, responsive mutations.

Fabry disease affects up to 1 in 40,000 births, and for a specific subset of these patients, Migalastat, marketed as Galafold, offers a targeted therapeutic option. This oral medication functions as a pharmacological chaperone, addressing the root cause of the disorder in individuals with certain genetic mutations by stabilizing their own deficient enzyme.

With a price tag of **$4.25 million**, Lenmeldy holds the title for the world's most expensive medical injection [1.4.2]. This one-time gene therapy treats metachromatic leukodystrophy (MLD), a rare, fatal genetic disorder affecting about one in 40,000 Americans [1.4.2, 1.7.6].