rare diseases

The European Medicines Agency (EMA) has recommended approval of the first drug in the European Union to use the CRISPR/Cas9 gene-editing technique. The drug, Casgevy, is indicated for the treatment of two rare inherited diseases, beta thalassaemia and sickle cell disease (sickle cell anaemia), caused by genetic mutations that affect the production or function of haemoglobin, the oxygen-carrying protein in red blood cells. Both conditions are debilitating and potentially fatal. The EMA opinion will be sent to the European Commission for a decision on an EU-wide marketing authorisation.

Between 2018 and 2020, a pilot programme conducted neonatal genetic screening of children born in Australia for spinal muscular atrophy, allowing treatment to begin early. A study just published in The Lancet Child & Adolescent Health looks at their condition at two years of age and concludes that they had better movement ability, including the ability to walk, compared to children diagnosed once they develop symptoms. According to the authors, the findings justify further implementation of neonatal screening for the disease.

A team of researchers from the Health Institute Carlos III has published an article quantifying the diagnostic delay of rare diseases in Spain with data from the period 1960-2021. The study reveals that more than half of the patients experienced a delay in diagnosis, that the average delay exceeds six years, and that both the percentage of those affected by the delay and the average time have decreased over the years.