Results 11 to 20 of about 1,989 (180)

Experiences and the psychosocial situation of parental caregivers of children with spinal muscular atrophy against the background of new treatment options: a qualitative interview study [PDF]

BMC Psychology
Background Spinal muscular atrophy is a rare neurodegenerative disorder in children which leads untreated to muscle wasting, respiratory impairments, and a shortened life expectancy.
Maja Brandt, Joenna Driemeyer, Jessika Johannsen, Jonas Denecke, Laura Inhestern, Corinna Bergelt   +5 more
doaj   +3 more sources

Review on zolgensma

International journal of health sciences, 2022
Disease and disorders are outlined as disablement of the normal state of living organism and annoyance of normal functioning of the body respectively. The ideal causes of the disorders are genetic factors, disease, stress or trauma. Genetic disorders are a pathological state provoked by one or more monstrosities in the genome.
M. Devi, L Kanimozhi, J E Ruth, K Chandralekha   +3 more
openaire   +3 more sources

Gene therapy of neurodegenerative diseases: achievements, developments, and clinical implementation challenges

Биопрепараты: Профилактика, диагностика, лечение, 2023
Neurodegenerative diseases (NDDs) are promising objects for the development of gene therapy products, primarily, due to the possible cause of these diseases (disruption of a gene or several genes), lack of effective therapy, and negative impact on the ...
E. V. Melnikova, V. A. Merkulov, O. V. Merkulova   +2 more
doaj   +4 more sources

Crowd Funding for Orphan Drugs: The Case of Baby Pia

Frontiers in Pharmacology, 2021
Medical crowdfunding is a relatively new strategy to obtain access to orphan drugs. The case of Baby Pia, a Belgian girl with SMA type 1 for whom in 2018 more than $ 2.1 million was raised to get her treated with Zolgensma®, illustrates well the ...
Wim Pinxten
doaj   +2 more sources

Perfil de notas técnicas para suporte técnico-científico à decisão judicial do medicamento Zolgensma® (onasemnogeno abeparvoveque)

HU Revista
Introdução: O aumento da judicialização da saúde tem destacado a importância dos centros de avaliação judicial em decisões baseadas em evidências.
Thisciane Ferreira Pinto Gomes, Ítalo Gustavo Lima Monteiro, Andrezza Abraham Ohana de Souza, Antônio Brazil Viana Junior, Karoline Ferreira da Silva, Luiz Gustavo Mendes de Moura, Patrícia Andrea de Fonseca Magalhães   +6 more
doaj   +3 more sources

New prospects for the treatment of Spinal Muscular Atrophy

Journal of Education, Health and Sport, 2019
Introduction: Spinal muscular atrophy (SMA) is one of the most common genetically determined causes of infant and young child death. The aim of the study: Review of medical literature on therapeutic strategies used in the treatment of SMA. Material and
Julita Poleszak, Przemysław Szabat, Marta Szabat, Grzegorz Boreński, Magdalena Wójcik, Joanna Milanowska, Konrad Rejdak   +6 more
doaj   +5 more sources

Current State of Human Gene Therapy: Approved Products and Vectors

Pharmaceuticals, 2023
In the realm of gene therapy, a pivotal moment arrived with Paul Berg’s groundbreaking identification of the first recombinant DNA in 1972. This achievement set the stage for future breakthroughs.
Aladdin Y. Shchaslyvyi, Svitlana V. Antonenko, Maksym G. Tesliuk, Gennadiy D. Telegeev   +3 more
doaj   +2 more sources

Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)

Cureus, 2023
Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and wasting in the voluntary muscles of infants and children. SMA has been the leading inherited cause of infant death. More specifically, SMA is caused by the absence of the SMN1 gene. In May 2019, the Food and Drug Administration (FDA) approved onasemnogene abeparvovec, SMN1 gene
Shahid B Rangrej
exaly   +3 more sources

Improved therapeutic approach for spinal muscular atrophy via ubiquitination‐resistant survival motor neuron variant [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Zolgensma is a gene‐replacement therapy that has led to a promising treatment for spinal muscular atrophy (SMA). However, clinical trials of Zolgensma have raised two major concerns: insufficient therapeutic effects and adverse events.
Joonwoo Rhee, Jong‐Seol Kang, Young‐Woo Jo, Kyusang Yoo, Ye Lynne Kim, Sang‐Hyeon Hann, Yea‐Eun Kim, Hyun Kim, Ji‐Hoon Kim, Young‐Yun Kong   +9 more
doaj   +2 more sources

Immune responses to central nervous system directed adeno-associated virus gene therapy: Does direct CNS delivery make a difference?

Neurotherapeutics
Adeno-associated virus (AAV) mediated gene therapy is a leading gene delivery platform with potential to transform the landscape of treatment for neurological disorders.
Ashley L. Harkins, Prajakta P. Ambegaokar, Allison M. Keeler   +2 more
doaj   +2 more sources