A new paper in Orphanet Journal of Rare Diseases outlines a new pipeline for identifying opportunities to develop therapies for rare diseases that do not have treatments.
Developing treatments for rare diseases continues to be difficult and expensive. Only 8% of rare diseases have an FDA-designated drug, but a new paper in Orphanet Journal of Rare Diseases outlines a new pipeline for identifying opportunities to develop therapies for rare diseases that do not have treatments. Specifically, the authors focused on genetic diseases.
Of those FDA-designated drugs, cancer, neurological disorders, and genetic diseases are the most commonly-targeted categories. However, genetic diseases are still underrepresented since more than 60% of known rare diseases are caused by mutations in one gene, also known as Mendelian diseases.
The authors examined the current and anticipated orphan drugs and used the Online Mendelian Inheritance in Man to search for rare disease targets.
The researchers built the pipeline based on the following 3 assumptions:
The researchers identified some top targetable diseases both due to gain-of-function mutations and loss-of-function mutations, such as Parkinson disease type 8 and type 4, Huntington disease, hereditary pancreatitis, isolated growth hormone deficiency type III, and lung cancer susceptibility. Most of the gain-of-function disease candidates are neuromuscular diseases, which “is consistent with the fact that neurological disorders are one of the most common disease categories in the current FDA orphan drug list,” the authors wrote.
Furthermore, the authors identified disease genes/proteins that might be able to be treated with current FDA-approved drugs since drug repurposing is an important route for orphan drug development.
“Our pipeline provides a list of potential low-hanging fruit for orphan drug research,” the authors concluded. “Drug development programs that are effective at finding inhibitors could focus on the gain-of-function candidates. Known allosteric modulators could be screened against the loss-of-function candidates to quickly evaluate the opportunities for moving forward.”
Males With Hemophilia A Report Physical, Mental Burdens of Disease Regardless of Severity
April 25th 2024Self-reported data from adult and pediatric males with hemophilia A show that burden of the disease persists regardless of severity, highlighting a need for improved prophylactic treatment.
Read More
What We’re Reading: FDA Approves UTI Antibiotic; Ozempic, Wegovy Price Investigation; US Births Fall
April 25th 2024The FDA recently approved an antibiotic for the treatment of urinary tract infections (UTIs) in women; a Senate committee recently launched an investigation into the prices of Novo Nordisk’s diabetes and weight loss drugs; US births fell last year, resuming a national slide after a previous increase during the pandemic.
Read More
HOPE-CAT Can Identify Maternal Cardiovascular Risk 2 Months Earlier Than Doctors, Study Says
April 25th 2024In a retrospective study, the machine learning tool was able to screen for potential risks of cardiovascular disease nearly 60 days before the patient's medical record showed any signs of a related condition or before they were officially diagnosed or treated for it.
Read More