The US Food and Drug Administration's Center for Drug Evaluation and Research (CDER) has announced the Accelerating Rare Disease Cures (ARC) program to accelerate the development of treatments for rare diseases. Because of the low understanding of rare diseases and the small patient populations, it is difficult to recruit, design, and set endpoints for clinical trials to develop therapeutics. In the first year, the program will focus on strengthening partnerships between internal and external stakeholders.
Rallybio will proceed with the development of rare disease treatment for Sanofi. The treatment is to relieve symptoms of severe anemia and iron overload caused by beta-thalassemia and certain types of myelodysplastic syndrome. Rallybio will conduct preclinical trials to evaluate drug toxicity.
ACMG has updated practice guidelines for evaluating hearing loss. Updated guidelines were published in Genetics in Medicine and reflect advanced NGS technology-based tests. ACMG recommended that newborns with hearing loss undergo a comprehensive evaluation including family medical history check and physical examination, and then proceed with an appropriate genetic test based on the results.
A study found a link between intellectual disability and hippocampal defects in children with Joubert Syndrome. Researchers have found a deletion in the primary cilia that plays an essential role in hippocampal development in animal models of Talpid3 deletion, a gene known to cause Joubert Syndrome. Researchers hope to develop therapeutics based on understanding the pathogenesis of Joubert Syndrome.
Rare disease pharmaceutical industry trendsIonis Pharmaceutical and AstraZeneca announced that they had succeeded in Phase 3 clinical trial of co-developing transthyretin amyloidosis treatment(eplontersen). However, the…