Cargando…

SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

Spinal muscular atrophy (SMA) is the most common lethal recessive disease in childhood, and there is currently no effective treatment to halt disease progression. The translation of scientific advances into effective therapies is hampered by major roadblocks in clinical trials, including the complex...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kayadjanian, Nathalie, Burghes, Arthur, Finkel, Richard S, Mercuri, Eugenio, Rouault, Francoise, Schwersenz, Inge, Talbot, Kevin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627630/ https://www.ncbi.nlm.nih.gov/pubmed/23514578 http://dx.doi.org/10.1186/1750-1172-8-44

Ejemplares similares

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
por: Darras, Basil T., et al.
Publicado: (2019)

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities
por: Rodriguez-Torres, Rafael S., et al.
Publicado: (2023)

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse
por: McGovern, Vicki L., et al.
Publicado: (2015)

SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
por: Kobayashi, Dione T., et al.
Publicado: (2013)

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
por: Ramsey, Danielle, et al.
Publicado: (2017)

Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients
por: Lochmüller, Hanns, et al.
Publicado: (2018)

Spinal muscular atrophy
por: D'Amico, Adele, et al.
Publicado: (2011)

Eighteen Years with Spinal Muscular Atrophy (SMA) Type 1
por: Valencia, Borja, et al.
Publicado: (2013)

Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada
por: McMillan, H.J., et al.
Publicado: (2021)

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort
por: Jones, Cynthia C., et al.
Publicado: (2020)

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
por: Finkel, Richard S., et al.
Publicado: (2012)

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
por: Oskoui, Maryam, et al.
Publicado: (2023)

A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland
por: Gillingwater, Thomas H., et al.
Publicado: (2022)

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
por: Paracha, Noman, et al.
Publicado: (2021)

Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
por: Oskoui, Maryam, et al.
Publicado: (2023)

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
por: Crawford, Thomas O., et al.
Publicado: (2012)

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)
por: Zanetta, Chiara, et al.
Publicado: (2014)

Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA)
por: LoMauro, A., et al.
Publicado: (2016)

Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol
por: Saposnik, Gustavo, et al.
Publicado: (2022)

Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
por: Paracha, Noman, et al.
Publicado: (2022)

Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol
por: Ros, Leandra A. A., et al.
Publicado: (2023)

The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe
por: Peña-Longobardo, Luz María, et al.
Publicado: (2020)

Neurofilament as a potential biomarker for spinal muscular atrophy
por: Darras, Basil T., et al.
Publicado: (2019)

New therapies for spinal muscular atrophy: where we stand and what is next
por: Antonaci, Laura, et al.
Publicado: (2023)

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls
por: Czech, Christian, et al.
Publicado: (2015)

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
por: Hensel, Niko, et al.
Publicado: (2020)

Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen
por: Wurster, Claudia D., et al.
Publicado: (2019)

Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment
por: Monnette, Alisha, et al.
Publicado: (2021)

Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review
por: Chong, Li Chuin, et al.
Publicado: (2021)

Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers
por: Sutherland, C. Simone, et al.
Publicado: (2021)

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
por: Boursange, Sophie, et al.
Publicado: (2022)

Developmental milestones in type I spinal muscular atrophy
por: De Sanctis, Roberto, et al.
Publicado: (2016)

Electrophysiological biomarkers in spinal muscular atrophy: proof of concept
por: David Arnold, W, et al.
Publicado: (2014)

Alambres musculares (SMA) /
por: Hernández Ramírez, Edgar
Publicado: (2001)

What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective
por: Blatnik, Anton J., et al.
Publicado: (2021)

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
por: Pechmann, Astrid, et al.
Publicado: (2019)

Longitudinal natural history of type I spinal muscular atrophy: a critical review
por: Mercuri, Eugenio, et al.
Publicado: (2020)

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification
por: Proud, Crystal M., et al.
Publicado: (2023)

Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family
por: Liyanage, Damith S, et al.
Publicado: (2014)

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain
por: López-Bastida, Julio, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_o84c2bqtk3segb7oo2q4uhtmau