Several specialists present the White Paper on Spinal Muscular Atrophy to publicize and increase social awareness of this disease – Pharma Market

Specialists from various disciplines have recently presented the document “Current situation and challenges of Spinal Muscular Atrophy in Spain”, White Paper of the SMA, promoted by Novartis Gene Therapies and whose main objective is to publicize this disease and increase social awareness about it. I loved her. The publication, in which some thirty experts in the approach to spinal muscular atrophy have participated, has the endorsement of the Spanish Society of Pediatric Neurology (Senep), the Spanish Society of Neurology (SEN), the Spanish Society of Rehabilitation Children (SERI), the Spinal Muscular Atrophy Foundation (FundAME) and the Spanish Federation of Rare Diseases (Feder). “People who suffer from SMA have a variety of therapeutic alternatives that have managed to completely change the face of the disease and the future.” “Currently, people who suffer from spinal muscular atrophy (SMA) have a variety of therapeutic alternatives that they have managed to completely change the face of the disease and the future that those newly diagnosed faced until very recently.This new era for SMA opens up a world of possibilities, a new horizon, and also opens up new challenges, challenges that remain collected in the publication that we present today”, said Alicia Folgueira, general director of Novartis Gene Therapies in Spain. Incidence Globally, the incidence of SMA, a rare and devastating genetic disease, is estimated at 1 in 10,000 live newborns , with a prevalence of 1-2 patients per 100,000 individuals.In Spain, with a figure in 2019 of 360,617 births, a ci fra of new diagnoses of about 36 annual cases in any of its forms of presentation and it is estimated that more than 1 in 50 inhabitants are healthy carriers of the disease and can transmit it. In Spain it is estimated that more than 1 in 50 inhabitants are healthy carriers of the disease and can transmit it. Throughout the more than 200 pages that make up the SMA White Paper, specialists who deal with patients affected by this disease every day have analyzed the current situation of SMA in the world and in Spain, have described the general aspects of this pathology and indicating what the prognosis of this disease is after its diagnosis, listing its symptoms and signs that can alarm the presence of this pathology. The publication places special emphasis on addressing the genetic aspects related to SMA and highlights the importance of neonatal screening as an effective method for early detection of affected patients. Likewise, the publication places special emphasis on addressing the genetic aspects related to SMA and highlights the importance of neonatal screening as an effective method for early detection of affected patients and that can help prevent irreversible loss of motor neurons. In this sense, Dr. Andrés Nascimento, neuropediatrician in the Neuromuscular Pathology Unit of the Neurology Service of the Sant Joan de Déu Hospital in Barcelona and one of the authors who has participated in the preparation of the AME White Paper, points out that time of disease progression and the level of motor function are the main modifiers of therapeutic response in patients with SMA. “The possibility of starting treatment early, in the presymptomatic phase, offers a clear benefit in the most severe forms of the disease compared to starting treatment in symptomatic phases.” “For this reason, the possibility of starting treatment early, in the presymptomatic phase, offers a clear benefit in the most severe forms of the disease compared to starting treatment in symptomatic phases. This forces us to urgently consider the need for neonatal screening for the detection of SMA at the national level”, declared the expert. Early diagnosis This rare disease is an example of how an accurate and early diagnosis, together with the development of new therapies that are capable of modifying the disease from its base, lead to better personalized care for patients with SMA and their relatives. “The objective must be to offer the best possible future to the largest number of patients and their families and to obtain the best possible therapeutic results.” And, according to Dr. Ignacio Pascual, head of the Pediatric Neurology Service at the La Paz University Hospital in Madrid, and another of the authors who have participated in the preparation of the SMA White Paper, innovation in the treatment of SMA has managed to modify the natural history of the disease together with the comprehensive multidisciplinary management of the patient. a very disabling disease and affects multiple areas, because the progressive loss of muscle strength can cause motor and mobility limitations, respiratory and swallowing complications and musculoskeletal complications”. “This multidisciplinary approach in the treatment of patients who live with with SMA encompasses various aspects, all of which are examined in the SMA White Paper: motor rehabilitation and respiratory function, nutrition, respiratory function care, psychological support for family members, surgeries (orthopedic and pediatric traumatology) and the management of hospitalized patients”, Dr. Pascual has listed, adding that general multidisciplinary management is more important when change the life expectancy and muscle function of affected patients. “General multidisciplinary management is more important when life expectancy and muscle function have been changed in affected patients.” For her part, Dr. Maria Grazia Cattinari, medical director at the Spinal Muscular Atrophy Foundation, has analyzed for this AME White Paper how this disease affects the lives of patients and their families. “SMA is a very disabling disease and affects multiple areas, because the progressive loss of muscle strength can cause motor and mobility limitations, respiratory and swallowing complications, and musculoskeletal complications. In addition, it must be taken into account that this disease has emotional and economic consequences for the whole family. It is worth reflecting on the burdens of the patient and family members and the lack of social, economic and institutional support”, she has indicated. “You have to keep in mind that this disease has emotional and economic consequences for the whole family.” The document ends by raising the new challenges in the care of patients with SMA, among which are early detection and neonatal screening in SMA, the challenge of communicating the diagnosis to the patient and their families, equity and cohesion in early diagnosis, access and continuity of available treatments, the need for knowledge about the long-term effect of new therapies and, finally, the search for the sustainability of the National Health System with all agents, through of the identification of innovative formulas in the equitable access of patients to these therapies. “It is essential to continue deepening our knowledge of SMA, implement multidisciplinary teams for comprehensive management and agree on protocols among all agents to speed up early diagnosis and facilitate access to new treatments.” “It is essential to continue deepening our knowledge of SMA, implement multidisciplinary teams for comprehensive management and agree on protocols among all agents to speed up early diagnosis and facilitate access to new treatments.The objective must be to offer the best possible future to the largest number of patients and their families and obtain the best possible therapeutic results”, concluded Dr. Andrés Nascimento.