The Portuguese Association of Bioindustry (P-BIO) organized on February 26th the session “Therapeutic Innovation in Rare Diseases”, in which gene therapy, its opportunities, obstacles and the way in which this therapeutic approach can be used were addressed in the future. The session took place within the framework of World Rare Disease Day, which took place on 28 February.
Currently, the data indicate that 400 million people worldwide have rare diseases, 80% of the rare diseases have an identified genetic origin and 50% of the new cases are diagnosed in children. Of the nearly 7 000 types of rare diseases that exist, only 5% have treatment available. In Portugal, it is estimated that there are between 600,000 and 800,000 people with rare diseases.
Martin Schulz (Senior Director of the Gene Therapy Platform, Pfizer Rare Disease Global Medical Affairs) opened the session and addressed gene therapy, explaining that this is a new generation of drugs in which a functional gene is delivered to a specific problem in the body for produce a protein that is missing or that doesn’t work.
This therapeutic innovation can be applied to several pathologies currently untreated and has a great potential for long-term transformative benefits, such as reducing the burden of the disease, improving quality of life, and, potentially, increasing life expectancy.
However, gene therapy is not an appropriate treatment option for all patients, and eligibility depends on several factors. Results can also be variable and long-term follow-up is required, and the durability of clinical effects is still being tested. In some cases, therapy is applied only once and the genetic disease can continue to be transmitted to offspring. However, Martin Schulz stresses that he feels that “we are in a new era of medicine”.
The debate, moderated by Maria do Céu Machado, former President of Infarmed, brought together several speakers, who addressed rare diseases from different perspectives. On the laboratory diagnosis side, Sandra Alves (Researcher in the Department of Human Genetics at the National Institute of Health Doutor Ricardo Jorge – INSA) addressed the development of therapeutic approaches to RNA in overload lysosomal diseases, while Margarida Menezes Ferreira (Quality Expert for Advanced Therapy Medicinal Products and other Biological Medicinal Products) spoke about the European perspective regarding the approval of these therapies.
Cristina Garrido (Neuropediatrician at Centro Hospitalar do Porto) presented the clinical perspective, stating that “it is necessary to manage expectations about gene therapy”, and early diagnosis is essential for faster and more effective action.
Joaquim Brites (President of the Portuguese Association of Neuromusculars), on the other hand, spoke from the perspective of patients and caregivers, referring that patient associations will still have a more important role in the future, in aspects such as the creation of research projects, the implementation of diagnosis, disease tracking, as well as “reinforcing the need to implement referral centers that, unfortunately, for neuromuscular patients, do not yet exist in Portugal”.
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