RYR1-related diseases patient-led international research workshop: Novel perspectives, treatments and interventions.
10 affiliations
- 1Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
- 2Department of Physiology and Biophysics, Rush University Medical Center, Chicago, IL, USA.
- 3Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.
- 4Department of Biochemistry and Molecular Biology, the Life Sciences Centre, University of British Columbia, Vancouver, BC, Canada.
- 5Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
- 6Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.
- 7The RYR-1 Foundation, Pittsburgh, PA, USA.
- 8Department of Neuroradiology, Allegheny Health Network, Pittsburgh, PA, USA.
- 9Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
- 10Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
Abstract
RYR1-related diseases (RYR1-RDs) encompass a wide spectrum of disease manifestations with limited available disease-modifying therapies. The RYR1-RD phenotypes include congenital myopathies of different histotypes often with early-onset muscle weakness, feeding difficulties, and respiratory insufficiency of varying severity. RYR1-RDs also include a group of episodic diseases such as exercise intolerance, exertional rhabdomyolysis, periodic paralysis, and malignant hyperthermia susceptibility. The RYR-1 Foundation hosted the second patient-led international research workshop focused on RYR1-RDs which was held on July 23rd-24th, 2025 in Pittsburg, Pennsylvania, USA that included a group of affected individuals, clinicians, and researchers to review the current status of research, and to evaluate high-priority areas for future research to enable development of therapeutics with direct involvement of affected individuals in the design and topics of this workshop. Identified high-priority areas were organized into six sessions: 1) Diagnosis and Genetics of RYR1-RDs, 2) Establishing Clinical Trial Readiness for RYR1-RDs, 3) Novel Insights into RYR1 Pathophysiology, 4) Disease Models and Translational Studies in RYR1-RD, 5) The Therapeutic Development Pipeline, and 6) Physical Therapy and Exercise in RYR1-RDs. Several novel disease models and novel DNA- and RNA-directed therapies were discussed. To establish clinical trial readiness, prospective natural history studies to optimize outcome measures and biomarkers with exploration of imaging modalities and wearable sensors are ongoing. This article provides a cohesive summary of the presentations that encompasses basic research from structural biology and preclinical models to clinical trials, and novel therapeutic development strategies for RYR1-RD as a comprehensive narrative for the neuromuscular and rare disease research audience.
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BibTeX
@article{yun2026ryr1related,
title = {{RYR1-related diseases patient-led international research workshop: Novel perspectives, treatments and interventions.}},
author = {Pomi Yun and Lourdes Figueroa and Chang Seok Lee and Filip Van Petegem and Nicol C Voermans and Robert T Dirksen and Michael F Goldberg and Līvija Medne and Jinson Paul and Mairéad Ryan and Emily Pedersen and Johanna Lanner and Payam Mohassel},
journal = {Journal of neuromuscular diseases},
year = {2026},
month = oct,
doi = {10.1177/22143602261463646},
url = {https://europepmc.org/article/MED/42906000},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - RYR1-related diseases patient-led international research workshop: Novel perspectives, treatments and interventions.
AU - Pomi Yun
AU - Lourdes Figueroa
AU - Chang Seok Lee
AU - Filip Van Petegem
AU - Nicol C Voermans
AU - Robert T Dirksen
AU - Michael F Goldberg
AU - Līvija Medne
AU - Jinson Paul
AU - Mairéad Ryan
AU - Emily Pedersen
AU - Johanna Lanner
AU - Payam Mohassel
PY - 2026
DA - 2026/10/21
JO - Journal of neuromuscular diseases
DO - 10.1177/22143602261463646
UR - https://europepmc.org/article/MED/42906000
AB - RYR1-related diseases (RYR1-RDs) encompass a wide spectrum of disease manifestations with limited available disease-modifying therapies. The RYR1-RD phenotypes include congenital myopathies of different histotypes often with early-onset muscle weakness, feeding difficulties, and respiratory insufficiency of varying severity. RYR1-RDs also include a group of episodic diseases such as exercise intolerance, exertional rhabdomyolysis, periodic paralysis, and malignant hyperthermia susceptibility. The RYR-1 Foundation hosted the second patient-led international research workshop focused on RYR1-RDs which was held on July 23rd-24th, 2025 in Pittsburg, Pennsylvania, USA that included a group of affected individuals, clinicians, and researchers to review the current status of research, and to evaluate high-priority areas for future research to enable development of therapeutics with direct involvement of affected individuals in the design and topics of this workshop. Identified high-priority areas were organized into six sessions: 1) Diagnosis and Genetics of RYR1-RDs, 2) Establishing Clinical Trial Readiness for RYR1-RDs, 3) Novel Insights into RYR1 Pathophysiology, 4) Disease Models and Translational Studies in RYR1-RD, 5) The Therapeutic Development Pipeline, and 6) Physical Therapy and Exercise in RYR1-RDs. Several novel disease models and novel DNA- and RNA-directed therapies were discussed. To establish clinical trial readiness, prospective natural history studies to optimize outcome measures and biomarkers with exploration of imaging modalities and wearable sensors are ongoing. This article provides a cohesive summary of the presentations that encompasses basic research from structural biology and preclinical models to clinical trials, and novel therapeutic development strategies for RYR1-RD as a comprehensive narrative for the neuromuscular and rare disease research audience.
SN - 2214-3599
SN - 2214-3602
ER -