Results 111 to 120 of about 19,843 (235)

The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient‐as‐Own‐Control Designs

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT A frequently cited concern regarding patient‐as‐own‐control trial designs in rare disease is the potential for placebo and related effects to inflate apparent treatment efficacy. Whether this concern is disqualifying or manageable has not been systematically evaluated.
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Therapeutic activity of modified U1 core spliceosomal particles

Nature Communications, 2016
Modification of the spliceosome is being tested as a potential therapy for exon-skipping diseases, such as spinal muscular atrophy (SMA). Here the authors show that 70K and stem loop IV structural elements of a modified U1 particle are essential for ...
Malgorzata Ewa Rogalska, Mojca Tajnik, Danilo Licastro, Erica Bussani, Luca Camparini, Chiara Mattioli, Franco Pagani   +6 more
doaj   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

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

Journal of Pediatric Rehabilitation Medicine, 2016
PURPOSE: 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.
Sally, Dunaway, Jacqueline, Montes, Michael P, McDermott, William, Martens, Annie, Neisen, Allan M, Glanzman, Amy, Pasternak, Susan, Riley, Douglas, Sproule, Claudia, Chiriboga, Richard, Finkel, Gihan, Tennekoon, Basil, Darras, Darryl, De Vivo, Shree, Pandya   +14 more
openaire   +2 more sources

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source

New Horizons in Physiotherapy for Spinal Muscular Atrophy (SMA) Type 1 in the Era of Disease-modifying Treatments: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Spinal Muscular Atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by SMN1 gene mutations, leading to progressive muscle weakness and respiratory compromise.
Vidhi Hitesh Doshi, Kirta Haresh Melwani, Dipali Suvarna, Varsha Solanki   +3 more
doaj   +1 more source

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities. [PDF]

J Clin Med, 2023
Rodriguez-Torres RS, Uher D, Gay EL, Coratti G, Dunaway Young S, Rohwer A, Muni Lofra R, De Vivo DC, Hirano M, Glynn NW, Montes J.   +10 more
europepmc   +1 more source

Schwann cell pathology in spinal muscular atrophy (SMA)

, 2015
The childhood neuromuscular disease spinal muscular atrophy (SMA) is caused by low levels of survival motor neuron (SMN) protein. Historically, SMA has been characterised as a disease primarily affecting lower motor neurons. However, recent breakthroughs have revealed defects in other non-neuronal cells and tissues. In vivo analysis of peripheral nerve
openaire   +2 more sources

Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA). [PDF]

J Clin Med, 2023
Tang WJ, Gu B, Montalvo S, Dunaway Young S, Parker DM, de Monts C, Ataide P, Ni Ghiollagain N, Wheeler MT, Tesi Rocha C, Christle JW, He Z, Day JW, Duong T.   +13 more
europepmc   +1 more source

Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature

Frontiers in Pediatrics
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons.
Hua Yang, Hua Yang, Jie Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Qianyun Cai, Rong Luo, Rong Luo   +9 more
doaj   +1 more source