Tag: Genetic disorder

For decades, there were no U.S. Food and Drug Administration (FDA)-approved treatments available to address the underlying causes of Niemann-Pick disease. This has recently changed with the approval of several new medications, fundamentally altering the therapeutic landscape for this rare genetic disorder. The question, 'What is the new drug for Niemann-Pick disease?' now has a multifaceted answer, with different treatments available for specific types of the condition.

In November 2024, the U.S. Food and Drug Administration (FDA) approved Kebilidi (eladocagene exuparvovec-tneq) under accelerated approval, making it the first approved gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency. But **what is Kebilidi**, and how does this groundbreaking, one-time treatment offer new hope for those living with this rare and severe neurological disorder?

Biotinidase deficiency, a rare inherited metabolic disorder, is detected in approximately 1 in 61,067 newborns worldwide through mandatory screening programs. This condition, if left untreated, can cause severe neurological and dermatological issues, making it critical to understand **what medication is used for biotinidase** to prevent serious complications.

Malignant hyperthermia (MH) occurs in approximately 1 in 100,000 adults receiving anesthetics, but the underlying genetic susceptibility may be far more common. This rare, but potentially fatal, pharmacogenetic disorder is triggered by a limited number of specific drugs. Knowing which drugs cause malignant hyperthermia is critical for patient safety during surgery.

According to the FDA, Kuvan (sapropterin dihydrochloride) was approved in 2007 as a treatment for certain types of Phenylketonuria (PKU). So, is KUVAN an enzyme replacement therapy? The answer requires a closer look at its unique pharmacological function as a cofactor, not an enzyme replacement.

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.

Approved by the FDA in 2010, Vpriv (velaglucerase alfa) has over a decade of real-world experience as a long-term enzyme replacement therapy (ERT). It is used to treat Type 1 Gaucher disease in adults and children ages 4 and older.