Category: Genetic disorders

Antisense oligonucleotides (ASOs) have emerged as a significant therapeutic platform, with several drugs already approved by the FDA for the treatment of rare genetic disorders. This innovative technology provides a way to target the root cause of certain diseases at the RNA level, fundamentally changing how various genetic conditions are treated with ASO.

Cystic Fibrosis (CF) affects approximately 100,000 people worldwide [1.7.1, 1.7.2]. A key question in its management is, **which enzyme is used to treat cystic fibrosis?** The answer involves two main types of enzyme therapies targeting different symptoms: dornase alfa for the lungs and pancreatic enzymes for digestion.

Affecting approximately 1 in 40,000 to 60,000 births, Gaucher disease is the most common lysosomal storage disorder, caused by a deficiency of the enzyme glucocerebrosidase (GCase). Understanding the specific therapeutic strategies for this genetic condition is essential for managing symptoms and improving quality of life, which is precisely how you treat glucocerebrosidase deficiency.

Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare genetic disorder of the immune system that affects an estimated 2,200 people in the United States. For those impacted by this condition, understanding what is ALPS medicine used for is a critical step in managing symptoms and improving quality of life. Unlike conditions treated by a single drug, treatment for ALPS involves a complex and highly individualized regimen of medications to manage specific disease manifestations.

Affecting fewer than 200,000 people in the United States, the porphyrias are a group of rare disorders [1.7.2]. A key question for understanding this group of conditions is, **what is aminolevulinic acid disease?** This term refers to these disorders where aminolevulinic acid (ALA) accumulates.

First approved by the FDA in 2002 for hereditary tyrosinemia type 1 (HT-1), nitisinone revolutionized the treatment of this life-threatening genetic disorder. But **which enzyme does nitisinone block** to achieve such a dramatic clinical outcome, and how does this mechanism prevent severe organ damage?

In the United States, Phenylketonuria (PKU) affects approximately 1 in every 10,000 to 15,000 newborns. For adults with uncontrolled PKU, a key question is: **Is PALYNZIQ an enzyme replacement therapy**? While it is a form of enzyme therapy, it's more precisely called an enzyme substitution therapy.

Hereditary Angioedema (HAE) is a rare genetic condition, affecting an estimated 1 in 10,000 to 1 in 50,000 people, which causes unpredictable and debilitating swelling attacks. To combat this, HAEGARDA is a subcutaneous injectable medication that works to prevent these painful episodes by addressing the underlying protein deficiency.

Initially developed by Genzyme and later acquired by Sanofi, venglustat is an investigational oral medication functioning as a substrate reduction therapy. This small-molecule compound has been explored for treating several rare lysosomal storage disorders, including Fabry and Gaucher disease, by targeting the synthesis of harmful glycosphingolipids.

The U.S. Food and Drug Administration (FDA) has issued warnings linking fluoroquinolone antibiotics to an increased risk of aortic rupture or dissection, particularly in patients with connective tissue disorders like Ehlers-Danlos syndrome (EDS). Given the fragile nature of connective tissue in EDS, understanding which medications pose a risk is a critical part of a comprehensive management strategy.