The New Frontier of Gene Therapies for Hypertrophic Cardiomyopathy
by Paolo Palma and Franco Cecchi
Gene therapy for the patient with hypertrophic cardiomyopathy
Genetic diseases still represent a considerable challenge for biomedical research today. Among these, hypertrophic cardiomyopathy (CMI), a condition characterized by abnormal thickening of the heart muscle, affects millions of people around the world. Over the last twenty years, in reference centers with proven experience, diagnostic and therapeutic definition programs, both pharmacological and cardiac surgery, have now been consolidated, which allow us to guarantee an improvement in survival and quality of life in the majority of patients. The further confirmation of the effectiveness of therapy with myosin inhibitor drugs, such as Mavacamten, now supplied "in a "compassionate" mode by the company that produces it, and Aficamten, through the publication of the clinical study "Sequoia (NEJM May 2024), makes hope for further improvement, with the appropriate use of these new drugs, after they have obtained approval from the international and national drug agencies.
However, a promising new therapeutic frontier is starting to be tested in the first subjects with HCM, in whom a causative variant in the MYBPC3 gene has been identified: gene therapy. Despite the challenges that await it, the gene therapeutic approach represents a revolutionary opportunity as it could theoretically allow us to directly address the genetic causes of cardiomyopathy. However, this type of therapy, already being tested in patients with other genetic, neurological and haematological diseases, has very high costs, which at the moment could only be addressed in some very rare genetic diseases. It also presents potential risks, which are still being defined.
We present here a brochure produced by the biotechnology company Tenaya, which is conducting pioneering research in this field. The basic idea is to introduce working copies of defective genes into heart cells, allowing them to produce the proteins needed for proper function. The first results on animal models are encouraging, but the experimentation will probably still be very long, in order to be able to accurately evaluate its safety and effectiveness. You can download and read the presentation of the research by clicking on the image on the side or at the following link: Gene therapy for the patient with hypertrophic cardiomyopathy.
On the topic you can also see a video document that visually shows the replacement mechanism of the defective gene. The video is made in English, however it is possible to activate subtitles in Italian.
