At this meeting, several key themes around leukodystrophies/rare diseases, gene therapy, the daily life of families, research developments and the launch of several promising clinical trials scheduled for 2020 were presented. On the occasion of International Rare Disease Day, Guy Alba, President of ELA International was invited to a groundbreaking presentation ’Leukodystrophy Research Advances in 2020;.
Leukodystrophies are rare diseases
ALD, the most common leukodystrophy, affects 1 in 17,000 births. Today there are around thirty identified leukodystrophies. Indeterminate leukodystrophies are diseases for which the genes involved are not identified. They still account for 20% of cases. They correspond to the rarest types of leukodystrophies.
Leukodystrophies are degenerative diseases that affect the myelin (nerve sheath) of the nervous system (brain and spinal cord) and which lead to very severe disability, progressively leading to the loss of all functions: sight, hearing, locomotion, memory, etc. and often leading to death.
Every week in France, 3 to 6 children are born with these terrible pathologies; with 20 to 40 in total in Europe.
ON THE AGENDA:
• Speech by Dr Françoise PIGUET, researcher at INSERM U1127, member of the board of directors of the French Society of Gene and Cell Therapy.
• Testimony of Bernadette Rodriguez, mother of Nathan and Noé, who suffer from CACH syndrome, a form of leukodystrophy.
• Speech by Guy Alba: the latest developments in leukodystrophy research and the launch of clinical trials in 2020
• Visit to the rare disease gene therapy laboratory at the ICM
ELA International brings together researchers from around the world
ELA International, which brings together researchers from all over the world, coordinates research into leukodystrophies and chooses to focus its funding on programmes that concentrate most on improving the health of patients. This can be achieved through studies/projects that aim to understand the mechanisms and natural history of the disease, including the discovery of disease assessment tools and biomarkers and the conducting of clinical trials.
ELA, 29 years of contribution to research
In twenty-nine years, ELA has contributed to the identification of these rare diseases, the understanding of new mechanisms, the development of new generation genome analysis methods, and some therapeutic revolutions such as haematopoietic stem cell transplants or gene therapy. The path of gene therapy is progressing and ELA has now been promoting its development for several years. This therapeutic approach remains a real hope for patients with certain types of leukodystrophy.
Research funding during the pandemic
The crisis has affected many ongoing research projects, with some being slowed down or even suspended for several months. The pandemic has also had serious consequences, such as the postponement of certain clinical trials supported by ELA. This contrasts sharply with the huge sums invested in record time by governments and private laboratories in efforts to find a vaccine against Covid-19. In this difficult context, ELA is redoubling its vigilance and fighting spirit to continue to raise awareness of leukodystrophies at international level.
ELA groups involved in research
With ELA, patients and their relatives are constantly on the move to contribute to research into rare diseases, and this also forms part of a profound change in the relationship between doctors and patients by giving patients and their families a role as actors through meetings between families and researchers, international research symposiums, and Leuconnect…