Evidence map›Paper›PMID 41451875›Full record

ReviewJournal of neuromuscular diseases2026

A toolkit for new facioscapulohumeral muscular dystrophy trial sites.

Joost Kools, Lawrence Korngut, Janet Petrillo Ballantyne, Irene Roozen, Ria de Haas, Amanda Hill, Teresinha Evangelista, Valeria A Sansone, Richard Roxburgh, Hanns Lochmuller and 3 more

Abstract readReview
In one paragraph

Review in Journal of neuromuscular diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Joost KoolsDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Lawrence KorngutDepartment of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada.
Janet Petrillo BallantyneDepartment of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada.
Irene RoozenDepartment of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
Ria de HaasDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Amanda HillFSHD Society - Empowering FSHD Patients, Accelerating FSHD Progress, USA.
Teresinha EvangelistaInstitute of Myology, Nord/Est/Ile-de-France Neuromuscular Reference Center, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.ORCID 0000-0002-1329-9131
Valeria A SansoneThe NEMO Clinical Center, Neurorehabilitation Unit, University of Milan, Milan, Italy.
Richard RoxburghNeurology Department, Auckland City Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.
Hanns LochmullerChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa.
Jeff StatlandDepartment of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Nicholas E JohnsonDepartment of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
Nicol VoermansDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Funding

Identifying the RNA Splicing and Gene Expression Changes that Cause Congenital Myotonic Dystrophy (Renewal)R01NS104010 · NINDS · VIRGINIA COMMONWEALTH UNIVERSITY · PI Nicholas Elwood Johnson · 2018 to 2026
$4.4M
Trial Readiness and Endpoint Assessment in LGMDR1 (TREATing-LGMDR1)U01NS124974 · NINDS · VIRGINIA COMMONWEALTH UNIVERSITY · PI Nicholas Elwood Johnson · 2023 to 2026
$4.0M
Development and validation of clinical outcome assessments in LGMD2AR21TR003184 · NCATS · VIRGINIA COMMONWEALTH UNIVERSITY · PI JOHNSON, NICHOLAS ELWOOD, STATLAND, JEFFREY · 2020 to 2021
$452k
FDA HHS R01 FD006071NCATS NIH HHS R21 TR003184NCBDD CDC HHS U01 DD001242NINDS NIH HHS R01 NS104010NINDS NIH HHS U01 NS124974
6 · The paper itself

Abstract

Numerous potential treatments are being developed for facioscapulohumeral muscular dystrophy (FSHD). Project Mercury was initiated to overcome challenges that could slow or prevent effective therapies from widespread availability to patients. It is important that upcoming trials include trial sites from different countries. We share our lessons learnt in clinical trials to assist inexperienced sites to become eligible for upcoming clinical trials. To become an eligible site, several key elements need to be in place such as personnel, facilities, and accessible patient populations. Clinical trial networks, patient advocacy groups and patient registries can support new sites in establishing these elements. As the preparation, execution and close-out of clinical trials generally involve the same steps every time, it is recommended to create and follow a trial roadmap. Most clinical trials are sponsor-initiated and involve working closely with the sponsor and vendors. It is therefore important to understand each other perspectives and goals for each trial. Once a drug receives regulatory approval and becomes available for market use new challenges arise such as patient reimbursement and phase 4 surveillance of the patients. In summary, we are at a pivotal time for FSHD and other rare neuromuscular disorders with the development of new disease modifying therapies. It is vital that as many sites as possible can participate in upcoming trials.

Indexed as

Clinical Trials as TopicMuscular Dystrophy, FacioscapulohumeralHumansfacioscapulohumeral muscular dystrophyFSHDmanagementtrialtrial readinesstrial unit

Identifiers

PMID41451875
PMCPMC13434960

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.