isolates (Italian Association of Amyotrophic Lateral Sclerosis) and Mario Negri Pharmacological Research Institute join forces to enrich the National ALS Register, with a survey aimed at identifying new strategies in taking charge of the NHS for one of the most complex and aggressive of rare diseases. The appeal addressed to families, doctors and institutions is the message launched on the eve of the XV World Rare Disease Day, in which every year it is remembered how fundamental it is to listen to the voice of families, to give targeted responses that meet their needs. In fact, ALS is a neurodegenerative disease that causes the progressive loss of the ability to move, swallow, speak and breathe and which today affects about 6,000 people in Italy.
Active since June 2020, the National ALS Register was wanted and created by Aisla, in collaboration with the Association of the Registry of Neuromuscular Patients. And thanks to the collection of personal, genetic and clinical data, the Registry represents a fundamental tool for contributing to scientific research. It favors the creation of a national network between clinical centers and specialists aimed at collecting data on the clinical, genetic and demographic characteristics of patients. A virtuous but also ambitious project – underlines a note – because it is only thanks to the proactive participation of families and caregivers that it will be possible to acquire ever greater knowledge about the disease, monitor changes, facilitate the identification of suitable patients for clinical trials and contribute , thus, to design increasingly targeted clinical studies.
“We still need to know a lot about the disease. In particular, we need to understand if the known heterogeneity of clinical manifestations is due to different causes and mechanisms. The power of the register lies precisely in allowing us to methodically analyze this heterogeneity. – he comments. Mario Sabatelli, president of the medical-scientific commission of Aisla and clinical director of the Nemo Center in Rome, adult area, at the Gemelli Hospital – Today, in fact, genetic research is telling us that we have at least 20 genes involved in the disease. And with the availability of organized disease data we can ‘dissect’ the ALS in the many subgroups in which it occurs, with the aim of researching, hopefully as soon as possible, solutions for each of these “. The register becomes , thus, a valuable tool for research also because it will allow coordinate the collection of data with the deposit of biological material in the national biobank SLA.
The integration with the Mario Negri Institute survey will also be an opportunity to collect, on a national scale, the experiences of patients and their caregivers on the assistance received. Awarded by the Ministry of Health and with the aim of offering tools and strategies aimed at improving care, the survey project called “What Als Wants?“Wants to offer a clear picture of the needs that vary with the progress of the disease and of the priorities of families forced to live with the ALS to compare it, then, with the perception of the caregivers.
“This is the first investigation of this type in Italy – he explains Elisabetta Pupillo, head of the neurodegenerative disease epidemiology unit of the Mario Negri Institute – The data collected so far, in fact, have mostly been obtained on small samples of patients, without taking into account the different phases of the disease, the personal characteristics of the patients and the quality of the assistance received. Furthermore, an important aspect is that the investigation is not an end in itself, but has the aim of providing concrete data that the NHS can use to identify and implement additional strategies to improve healthcare considering the regional differences “.
An alliance, therefore, between patients and their caregivers, doctors and researchers to continue to understand the disease more and more, combining resources starting from the concrete experience of those who live it. For this reason, the web based IT platform is totally accessible in its compilation (patient driven) and the patient and / or caregiver can directly access the seven digital cards, entering their demographic and clinical information. Not only that, they are still the ones who indicate to their doctor or referral center to integrate the clinical information necessary to build the personal history of the disease. To participate in the National ALS Register: www.registronmd.it; to receive information and support: [email protected] or tel. 340 8211848.