Breakthroughs in Rare Diseases Therapeutics

2024 rings positive for those suffering from some kind of rare disease. On January 16, 2024, Vertex Pharmaceuticals and CRISPR Therapeutics announced that the US Food and Drug Administration has approved the use of Casgevy, a therapy that uses CRISPR gene-editing to treat the serious blood disorder, transfusion-dependent beta-thalassemia, marking the second major US regulatory approval for the emerging gene-editing technology. This approval is a testament to the breakthroughs in therapeutics for rare medical conditions.

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The previous year witnessed many promising developments in the fight against rare diseases. The recent Casgevy's FDA approval for beta thalassemia comes just one month after the US drug regulator approved the use of Casgevy in treating sickle cell disease — which is notably the first time the CRISPR-based treatment received a regulatory green light in the United States.

Casgevy uses the novel CRISPR gene-editing technology to modify patients’ blood cells and transplant the modified cells back into the bone marrow, triggering an increase in the production of haemoglobin, according to the FDA.

Rare diseases are considered as a significant health challenge. Between 5,000 and 8,000 rare diseases have been identified and these diseases, though not prevalent like other diseases, as a group, affect 6 to 8 per cent of the global population. Rare diseases present unique problems for not only the individuals living with the rare medical condition but for caregivers, researchers, policymakers, and industries as well.

More than 80 per cent of rare diseases are caused by genetic or congenital aberrations, and 75 per cent present with a wide range of neurological symptoms and physical and intellectual disabilities. Sadly, rare diseases mostly affect children or young adults, and even worse, several siblings can be affected in the same family. As such, these diseases come with substantial hardship for both parents and patients. Hence, advancing therapies to cater to their wellbeing is of utmost critical.

Urgency for R&D