The ASSOCIAZIONE ITALIANA SLA Onlus (AISLA) was founded in 1983 with the aim of becoming the national reference subject for the protection, assistance and care of ALS patients, promoting information on the disease and stimulating the competent structures to take adequate and qualified care of the patients. It is active throughout the country in favour of people with ALS and their families. It supports research, training, information and assistance. Today it has more than 2,000 members and 60 territorial offices, present in 19 regions, with over 250 volunteers and 8 collaborators.
NATIONAL BIOBANK SLA | A NECESSARY PROJECT
In 2015 Aisla Onlus has started collecting funds for the creation of a National Biobank, able to collect and store hundreds of thousands of biological samples from patients suffering from Amyotrophic Lateral Sclerosis, enrolled from as many centers as possible, involved in clinical research on ALS.
In addition to the collection of biological material, the project is aimed at collecting and studying clinical, epidemiological and genetic data, which will be made available to all Italian researchers, thus contributing to significantly accelerate research activities on Amyotrophic Lateral Sclerosis, a degenerative disease that is currently incurable and whose causes are still little known.
While research on ALS – which selectively affects a group of cells, called motor neurons, leading to the progressive paralysis of skeletal muscles – has made important progress in the last 20 years, thanks mainly to discoveries in the field of genetics, the scarce availability of clinical and biological data, linked to the rarity of the disease, represents one of the main obstacles to scientific progress.
Biobanks in particular are therefore essential to have available biological material (DNA, cells, plasma, liquor) and related clinical data: a valuable source of resources for research, from basic research to the testing of therapies and possible new drugs. Through the biological heritage collected in biobanks, it is also possible to study the causes of rare genetic diseases and to define new tools for prevention and diagnosis.
Since there is not yet a centralized biobank, at national level, dedicated to ALS in Italy, AISLA is committed to providing this service to all researchers and clinicians who daily fight this disease.
Given the complexity of the disease, research on ALS is active in different areas, in order to identify effective therapeutic strategies and identify new and reliable markers, fundamental both for the diagnosis and for the definition of progression.
– Genetics – discovery of new causative mutations of the disease for the identification of new targets for gene therapy, with drugs that modulate the expression of altered genes. In light of the results in other neuromuscular diseases (SMA and Amyloid Polyneuropathy) this approach represents one of the most promising strategies.
– Diagnosis and prognosis – identification of possible diagnostic markers both biological (e.g. analysis of neurofilaments in CSF and blood) and instrumental (e.g. MRI).
– Pathophysiopathological mechanisms – for the identification of new therapeutic targets for biochemical therapy, with drugs that interfere with cellular functions that are assumed to play a role in motor neuron degeneration, such as:
– Excitotoxicity and oxidative stress
– Metabolism of the ANN
– Quality control and protein aggregation
– Specific protein functionality and axonal transport
– Inflammation and immunity in the nervous system
OBJECTIVES OF THE NATIONAL BIOBANK ON THE SLA
– standardise the collection, processing and storage of ALS patient samples in order to ensure their quality
– ensure the availability of material suitable for the needs of scientific research according to the evolution of knowledge about the disease;
– to promote communication and exchanges between the various Italian research groups on ALS
FACTORS OF SUCCESS AND INNOVATION
– The progress of scientific research towards therapy for ALS requires the availability of numerous samples of biological material.
– Collections that are no longer spontaneous, but institutional, organized and certified according to standardized procedures that guarantee the best conditions to accelerate development time from the laboratory to the patient’s bed.
– A widespread project throughout the country: based on the participation of all Italian ALS Clinical Centres and the involvement and support of all the local authorities in order to guarantee the effectiveness and continuity of the collection activities.
In Italy there are about 6,000 people with ALS (1/10,000), spread evenly throughout the country. In the catchment area of a zonal hospital there are about 20-25 residents affected by the disease.
The aim of the National ALS Biobank is to encourage the collection of biological samples by also supporting more peripheral and less organized clinical centres. For this reason the collection of biological samples is a strongly territorial project that supports an activity of high utility for scientific research without concentrating resources in a few hubs of excellence.