International Day for Rare Diseases, an unprecedented event organised by ELA International at the ICM Paris

On the occasion of International Rare Disease Day, on 28 February, ELA organised an original meeting, in partnership with the research laboratory ICM – the Brain and Spinal Cord Institute at the Pitié Salpêtrière. Around fifty guests from the worlds of business, education, board members, ELA families and donors attended.

Gene therapy and leukodystrophies
Françoise Piguet, a researcher at INSERM U1127, a member of the board of directors of the French Society of Gene and Cell Therapy, and a member of the team at the Rare Disease Gene Therapy Research Laboratory headed by Nathalie Cartier (which develops gene therapies for severe neurodegenerative diseases such as leukodystrophies), gave a presentation to simplify gene therapy for all and talked about how to bring a missing gene into cells to correct the genetic defect. The gene is the “medicine”. The transfer of the deficient gene is carried out using a virus rendered harmless (cf. presentation by Françoise Piguet). Another highlight of the morning was when Guy Alba recalled with conviction and determination ELA’s relentless investment in leukodystrophy research. ELA organises this research on the basis of patients and their families. It is the ELA associations (7 in Europe) that decide on the direction of research.

Leukodystrophy research, advances in 2020
Guy Alba, President of ELA International, also presented the upcoming launch of several promising clinical trials:
A first call for tender launched in 2020 for women with leukodystrophy (PMD – ALD) – ELA grant: €500,000 – Expected start in 2021.
A treatment trial for children with Pelizeus-Merzbacher leukodystrophy (PMD) – ELA grant: €500,000 – Expected start: end of 2020-2021.
A treatment trial for CACH syndrome – ELA grant: €500,000 – Expected start: 1st half of 2020.

• Guy Alba, President of ELA International

• Françoise Piguet, researcher at INSERM U1127, member of the board of directors of the French Society for Gene and Cell Therapy, and of the team of the Rare Disease Gene Therapy Research Laboratory

• Bernadette, mother of Nathan and Noé, twins with CACH syndrome