Results 111 to 120 of about 7,657 (243)

Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy

Therapeutic Advances in Neurological Disorders, 2018
Background: Nusinersen is an intrathecally administered antisense oligonucleotide (ASO) and the first approved drug for the treatment of spinal muscular atrophy (SMA).
Benjamin Stolte, Andreas Totzeck, Kathrin Kizina, Saskia Bolz, Lena Pietruck, Christoph Mönninghoff, Nika Guberina, Denise Oldenburg, Michael Forsting, Christoph Kleinschnitz, Tim Hagenacker   +10 more
doaj   +1 more source

Spinal muscular atrophy and acute lymphoblastic leukemia - is it just a coincidence? [PDF]

Srpski Arhiv za Celokupno Lekarstvo
Introduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient.
Jovanović Kristina, Dimić Jovana, Brkušanin Miloš, Nikolić Dejan, Škorić Dejan   +4 more
doaj   +1 more source

Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery [PDF]

Arquivos de Neuro-Psiquiatria
Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity.
Rodrigo de Holanda Mendonça, Hermann dos Santos Fernandes, Rafael Barbéro Schimmelpfeng Pinto, Ciro Matsui Júnior, Graziela Jorge Polido, André Macedo Serafim da Silva, Luis Fernando Grossklauss, Umbertina Conti Reed, Edmar Zanoteli   +8 more
doaj   +2 more sources

Cost comparison analysis of onasemnogene abeparvovec and nusinersen for treatment of patients with spinal muscular atrophy type 1 in the Netherlands

European Journal of Health Economics
Spinal muscular atrophy (SMA) is a rare genetic disease resulting in loss of motor function and, in severe cases (e.g., SMA type 1), infantile death. While treatments like nusinersen and onasemnogene abeparvovec improve prognosis for patients with SMA ...
S. van der Schans, Rimma Velikanova, D. Weidlich, R. Howells, Anish Patel, Matthias Bischof, M. J. Postma, C. Boersma   +7 more
semanticscholar   +1 more source

The role of experiential knowledge within attitudes towards genetic carrier screening : a comparison of people with and without experience of spinal muscular atrophy [PDF]

, 2018
Purpose: Autosomal recessive conditions, whilst individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them.
Boardman, Felicity K., Griffiths, Frances, Warren, O., Young, P.   +3 more
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Effective local treatment of necrotizing fasciitis using a chlorine solution obtained by electrolysis [PDF]

Srpski Arhiv za Celokupno Lekarstvo
Introduction. Spinal muscular atrophy (SMA) and acute lymphoblastic leukemia (ALL) are rare diseases, with usual onset in childhood. To date, no cases have been reported where these conditions co-exist in one patient.
Kovačević Predrag T.
doaj   +1 more source

Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen

BMC Pediatrics
Background Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder that can be treated with intrathecal nusinersen, an antisense oligonucleotide.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li   +6 more
doaj   +1 more source

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.

JAMA Netw Open
This comparative effectiveness study examines respiratory and nutritional support, motor function, and survival outcomes in a matched cohort of French children receiving nusinersen vs gene therapy as first-line treatment for spinal muscular atrophy type ...
Ropars J, Cances C, Garcia-Uzquiano R, Gomez-Garcia de la Banda M, Barnerias C, Audic F, Durigneux J, Halbert C, Nkam L, Laugel V, Espil C, Walther-Louvier U, Davion JB, Isapof A, Le Goff L, Desguerre I, Quijano-Roy S, Grimaldi L, French SMA Registry Study Group.   +18 more
europepmc   +2 more sources

Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

BMC Neurology
Background Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT).
Miriam Hiebeler, Simone Thiele, Maggie C. Walter   +2 more
doaj   +1 more source

The ASO Nusinersen ameliorates motor function and prevents Cajal body disassembly and abnormal poly(A) RNA distribution in motor neurons from a Spinal Muscular Atrophy mouse model [PDF]

, 2020
: Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease characterized by degeneration of spinal cord alpha motor neurons (αMNs). It is caused by the homozygous deletion or mutation of the survival motor neuron 1 (SMN1)
Medina Samamé, Luz Almudena
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