1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

Voermans, Nicol C.; Bravo, Marjorie; Padberg, George W.; Laforêt, Pascal; Alfen, Nens van; Attarian, Shahram; Badrising, Umesh A.; Bugiardini, Enrico; González, Patricia; Carlier, Robert‐Yves; Desguerre, I.; Díaz‐Manera, Jordi; Dumonceaux, Julie; Engelen, Baziel G. van; Evangelista, Teresinha; Khosla, Sundeep; Munáin, Adolfo López de; Maarel, Silvère M. van der; Méjat, Alexandre; Monforte, Mauro; Montagnese, Federica; Mul, Karlien; Oflazer, Piraye; Porter, B.; Quijano-Roy, S.; Ricci, Enzo; Sacconi, Sabrina; Sansone, Valeria; Schoser, Benedikt G. H.; Statland, Jeffrey; Stumpe, Eva; Tasca, Giorgio A.; Tawil, Rabi; Turner, Cathy; Vissing, John

doi:10.1016/j.nmd.2021.07.013

Cited by 10 publications

(8 citation statements)

References 54 publications

(43 reference statements)

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“…In recent years, the NMD field has greatly advanced by acknowledging the importance of detailed genetic screening, the collection of natural history data in patient populations, and the availability of informative outcome measures and biomarkers able to assess treatment efficacy in clinical trials (Straub and Bertoli, 2016;Voermans et al, 2021). To facilitate the critical evaluation of preclinical drug studies aimed to de-risk clinical development of therapies for NMDs, the TREAT-NMD Advisory Committee for Therapeutics (TACT) was initiated in 2009 (www.treat-nmd.com/ tact).…”

Section: The Importance Of High-quality Preclinical Researchmentioning

confidence: 99%

The predictive value of models of neuromuscular disorders to potentiate clinical translation

Putten

2022

Disease Models &Amp; Mechanisms

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Neuromuscular disorders (NMDs) are a heterogenous group of rare inherited diseases that compromise the function of peripheral nerves and/or muscles. With limited treatment options available, there is a growing need to design effective preclinical studies that can lead to greater success in clinical trials for novel therapeutics. Here, I discuss recent advances in modelling NMDs to improve preclinical studies as well as two articles from this issue that work in parallel to enable a deeper understanding of a particularly rare NMD, known as X-linked myotubular myopathy.

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Section: The Importance Of High-quality Preclinical Researchmentioning

confidence: 99%

The predictive value of models of neuromuscular disorders to potentiate clinical translation

Putten

2022

Disease Models &Amp; Mechanisms

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“…To date, all the clinical trials for FSHD, with the exception of the Fulcrum Therapeutics trials ((NCT04003974, NCT04004000, NCT04264442), focused on non-specific approaches in order to reduce the oxidative stress, increase the muscle mass and strength or modulate the immune response to ameliorate the muscle homeostasis (Voermans et al, 2021). None of these non-targeted trials reach their primary endpoints and all were stopped.…”

Section: Therapeutic Strategiesmentioning

confidence: 99%

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy

Mariot

Dumonceaux²

2022

Front. Genome Ed.

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Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The recent development of the clustered regularly interspaced short-palindromic repeat (CRISPR) based technology opened new avenues of research, and FSHD is no exception. For the first time, a cure for genetic muscular diseases can be considered. Here, we describe CRISPR-based strategies that are currently being investigated for FSHD. The different approaches include the epigenome editing targeting the DUX4 gene and its promoter, gene editing targeting the polyadenylation of DUX4 using TALEN, CRISPR/cas9 or adenine base editing and the CRISPR-Cas9 genome editing for SMCHD1. We also discuss challenges facing the development of these gene editing based therapeutics.

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“…There is a growing interest from several pharma companies to run clinical trials in FSHD across Europe [ 22 ]. This study aimed to understand the FSHD community’s perspective, so that when clinical trials are developed, they are designed and organized in a way to maximize patient involvement and participation, by targeting key symptoms and including outcome measures that are relevant and important to patients.…”

Section: Introductionmentioning

confidence: 99%

Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation

McNiff,

Hawkins,

Haase

et al. 2024

JND

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Background: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness leading to permanent disability. There are no curative treatments, however, there are several upcoming clinical trials testing new therapies in FSHD. Objective: This study aimed to explore the disease burden and patient preferences of people with FSHD to ensure that clinical trials can be designed to include outcome measures that are relevant and important to patients. Methods: A survey was developed with a steering committee clinicians and physiotherapists with relevant experience in the disease, patient representatives, a registry expert and industry consultants. Themes of the survey included; participant demographics, disease progression and impact on function, factors encouraging or discouraging clinical trial participation, and positive outcomes of a clinical trial. Results: 1147 participants responded to the online survey, representing 26 countries across Europe and a range of disease severities. The study highlighted the key symptoms causing concern for FSHD patients - muscle weakness and mobility issues - reflecting what participants want targeted for future therapies. The need for clear information and communication throughout clinical trials was emphasised. Factors most encouraging trial participation included access to new investigational therapies, access to trial results and benefits for the FSHD community. Factors most discouraging trial participation included travel related issues and fear of side effects. Conclusions: The results from this study identify the patient reported burden of FSHD and should provide researchers and industry with areas of therapeutic research that would be meaningful to patients, as well as supporting the development of patient centric outcome measures in clinical trials.

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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

Cited by 10 publications

References 54 publications

The predictive value of models of neuromuscular disorders to potentiate clinical translation

The predictive value of models of neuromuscular disorders to potentiate clinical translation

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation

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