Results 41 to 50 of about 1,670 (170)

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

Frontiers in Genetics, 2021
Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ quality of
Siiri Sarv, Tiina Kahre, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Sander Pajusalu, Kai Muru, Kai Muru, Haide Põder, Katrin Gross-Paju, Katrin Gross-Paju, Sandra Ütt, Riina Žordania, Inga Talvik, Eve Õiglane-Shlik, Eve Õiglane-Shlik, Kristina Muhu, Katrin Õunap, Katrin Õunap   +18 more
doaj   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA) [PDF]

PLOS ONE, 2016
SMA is characterised by progressive motor and respiratory muscle weakness. We aimed to verify if in SMA children 1)each form is characterized by specific ventilatory and thoraco-abdominal pattern(VTAp) during quiet breathing(QB); 2)VTAp is affected by salbutamol therapy, currently suggested as standard treatment, or by the natural history(NH) of SMA; 3)
LO MAURO, MARIA ANTONELLA, ALIVERTI, ANDREA, Mastella, C., Arnoldi, M. T., Banfi, P., Baranello, G.   +5 more
openaire   +6 more sources

The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1

Pakistan Journal of Medicine and Dentistry
Spinal muscular atrophy (SMA) is a hereditary neuromuscular condition caused by mutations in the Survival Motor Neuron 1 gene. This report presents a clinical description of a case diagnosed with SMA and highlights the significance of early recognition ...
Almas Siddique, Shanzay Siddique, Erum Akhter   +2 more
doaj   +1 more source

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol [PDF]

Einstein (São Paulo)
Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor ...
Elice Carneiro Batista, Edmar Zanoteli, Frederico Monfardini, Gustavo Prado dos Santos, Gisele Sampaio Silva, Otávio Berwanger, Luiz Vicente Rizzo, Henrique Andrade Rodrigues da Fonseca   +7 more
doaj   +1 more source

Ethnomedicinal Uses, Phytochemistry, Pharmacological Activities, and Toxicology of the Subfamily Gomphrenoideae (Amaranthaceae): A Comprehensive Review

Chemistry &Biodiversity, EarlyView.
ABSTRACT The subfamily Gomphrenoideae is composed of about 480 accepted species, many of which have been historically used as medicinal plants, reason why they have been studied in terms of chemical profile, biological activity, and safety. This review consolidates the advances in research on this subfamily over the past 47 years, emphasizing its ...
Dayanna Isabel Araque Gelves, Giulia Cristina de Andreoli Souza, Alvaro Jose Hernandez Tasco, Marcos José Salvador   +3 more
wiley   +1 more source

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

NeuroImage: Clinical, 2019
Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models.
Giorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, Anthony Behin, Tanya Stojkovic, François Salachas, David Devos, Nadine Le Forestier, Maria del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meninger, Gaëlle Bruneteau, Julien Cohen-Adad, Stéphane Lehéricy, Pascal Laforêt, Sophie Blancho, Habib Benali, Martin Catala, Menghan Li, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Peter Bede, Pierre-François Pradat   +23 more
doaj  

FRAME: Framework for Real‐World Evidence Assessment to Mitigate Evidence Uncertainties for Efficacy/Effectiveness – An Evaluation of Regulatory and Health Technology Assessment Decision Making

Clinical Pharmacology &Therapeutics, EarlyView.
Real‐World Evidence (RWE) is increasingly used in submissions to regulatory agencies and health technology assessment bodies (HTAbs) to support the efficacy and effectiveness of new medicines and indications. However, there is limited information on the RWE characteristics that impact its role in approval and reimbursement decisions.
Gianmario Candore, Claire Martin, Mack J. Mills, Annabel Suter, Anna Lloyd, Danitza Chavez‐Montoya, Diego Civitelli, Birgit Wolf, Paul Bolot, Juergen Wasem, Montse Soriano Gabarró, Panos G. Kanavos, Mark Sculpher   +12 more
wiley   +1 more source

Physical therapy services received by individuals with spinal muscular atrophy (SMA)

Journal of Pediatric Rehabilitation Medicine, 2016
The consensus statement for standard of care in SMA recommends multidisciplinary medical care including physical therapy (PT) services. To date there are no reports regarding the implementation of these recommendations and the type of care or services received by individuals with SMA. The purpose of this study is to describe the PT services received by
Basil T. Darras, Gihan Tennekoon, Richard S. Finkel, Jacqueline Montes, Darryl C. De Vivo, Douglas M. Sproule, Annie Neisen, Shree Pandya, Susan Riley, Michael P. McDermott, Allan M. Glanzman, Amy Pasternak, Sally Dunaway, William B. Martens, Claudia A. Chiriboga   +14 more
openaire   +3 more sources

Optimizing Patient Registries for Regulatory Decision Making ‐ Key Learnings From an HMA/EMA Multistakeholder Workshop

Clinical Pharmacology &Therapeutics, EarlyView.
The Joint Heads of Medicines Agencies and European Medicines Agency's (HMA/EMA) big data initiative paves the way for better integration of real‐world data, including data from patient registries, into regulatory decisions on medicines. This article focuses on the outcome of a two‐day multistakeholder workshop organized by EMA in 2024, which explored ...
Kelly Plueschke, Carla Jonker, Hanna Kankanen, Thorsten Vetter, Bruno Sepodes, Lutz Naehrlich, Jan Hillert, Gracy Crane, Sabine Straus, Paolo Foggi, Simona Martin, Christina Kyriakopoulou, Peter Mol, Francesca Day, Kieran Breen, Neil Bennett, Mencia de Lemus Belmonte, Simon Bennett, Patrice Verpillat, Kit C. B. Roes, Ana Cochino, Franz Schaefer, Jesús María Hernández‐Rivas, Patricia McGettigan, Peter Arlett   +24 more
wiley   +1 more source