226^th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands

Annemieke Aartsma-Rus¹, Alessandra Ferlini², Elizabeth M McNally³, Pietro Spitali⁴, H Lee Sweeney⁵; workshop participants

Collaborators, Affiliations

Collaborators

workshop participants:
Annemieke M Aartsma-Rus⁴, Christina Al-Khalili Szigyarto⁶, Luca Bello⁷, Abby Bronson⁸, Kristy Brown⁹, Filippo Buccella¹⁰, Jessica Chadwick¹¹, Alessandra Ferlini¹², Diane Frank¹³, Eric Hoffman¹⁴, Jane Larkindale¹⁵, G McClorey¹⁶, Elizabeth McNally¹⁷, Rick Munschauer¹⁸, Francesco Muntoni¹⁹, Jane Owens²⁰, Ulrike Schara²¹, Pietro Spitali⁴, Volker Straub²², Lee Sweeney²³, Jon Tinsley²⁴, Jenny Versnel²⁵, Elizabeth Vroom²⁶, Ellen Welch²⁷

Affiliations

¹ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: a.m.rus@lumc.nl.
² Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Italy; Dubowitz Neuromuscular Unit, UCL, London.
³ Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL USA.
⁴ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁵ Myology Institute, Department of Pharmacology and Therapeutics, University of Florida, Gainesville, FL, USA.
⁶ KTH School of Biotechnology, Royal Institute of Technology, Stockholm, Sweden.
⁷ University of Padova, Dept. of Neuroscience, Padova, Italy.
⁸ Parent Project Muscular Dystrophy, Washington, DC, USA.
⁹ Solid Biosciences, Cambridge, USA.
¹⁰ Parent Project Onlus, Genitori contro la Distrofia Muscolare di Duchenne & Becker ONLUS, Roma, Italy.
¹¹ SomaLogic Inc., Boulder, CO, USA.
¹² Universita di Ferrara, Dipartemento di Scienze Mediche, Sezione di Genetica Medica, Ferrara, Italy.
¹³ Sarepta Therapeutics, Cambridge, MA, USA.
¹⁴ Reveragen, Rockville, MD, USA.
¹⁵ Critical Path Institute, Duchenne Regulatory Science Consortium, Tucson, AZ, USA.
¹⁶ University of Oxford, Dept. Physiology, Anatomy and Genetics Oxford, UK.
¹⁷ Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
¹⁸ Marathon Pharmaceuticals, Northbrook, IL, USA.
¹⁹ Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK.
²⁰ Pfizer, Cambridge, MA, USA.
²¹ University of Essen, Dept. of Pediatric Neurology, Centre of NMD in childhood and adolescence, Essen, Germany.
²² The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, University of Newcastle upon Tyne, UK.
²³ University of Florida, Dept. of Pharmacology and Therapeutics ARB R5/216, Dept. of Physiology, Gainesville, FL, USA.
²⁴ Summit plc, Abingdon, UK.
²⁵ Muscular Dystrophy UK, London, UK.
²⁶ Duchenne Parent Project, UPPMD, Amsterdam, The Netherlands.
²⁷ PTC Therapeutics, South Plainfield, NJ, USA.

PMID: 29203356
PMCID: PMC5957286
DOI: 10.1016/j.nmd.2017.10.002

226^th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands

Annemieke Aartsma-Rus et al. Neuromuscul Disord. 2018 Jan.

. 2018 Jan;28(1):77-86.

doi: 10.1016/j.nmd.2017.10.002. Epub 2017 Oct 26.

Authors

Annemieke Aartsma-Rus¹, Alessandra Ferlini², Elizabeth M McNally³, Pietro Spitali⁴, H Lee Sweeney⁵; workshop participants

Collaborators

workshop participants:
Annemieke M Aartsma-Rus⁴, Christina Al-Khalili Szigyarto⁶, Luca Bello⁷, Abby Bronson⁸, Kristy Brown⁹, Filippo Buccella¹⁰, Jessica Chadwick¹¹, Alessandra Ferlini¹², Diane Frank¹³, Eric Hoffman¹⁴, Jane Larkindale¹⁵, G McClorey¹⁶, Elizabeth McNally¹⁷, Rick Munschauer¹⁸, Francesco Muntoni¹⁹, Jane Owens²⁰, Ulrike Schara²¹, Pietro Spitali⁴, Volker Straub²², Lee Sweeney²³, Jon Tinsley²⁴, Jenny Versnel²⁵, Elizabeth Vroom²⁶, Ellen Welch²⁷

Affiliations

¹ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: a.m.rus@lumc.nl.
² Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Italy; Dubowitz Neuromuscular Unit, UCL, London.
³ Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL USA.
⁴ Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁵ Myology Institute, Department of Pharmacology and Therapeutics, University of Florida, Gainesville, FL, USA.
⁶ KTH School of Biotechnology, Royal Institute of Technology, Stockholm, Sweden.
⁷ University of Padova, Dept. of Neuroscience, Padova, Italy.
⁸ Parent Project Muscular Dystrophy, Washington, DC, USA.
⁹ Solid Biosciences, Cambridge, USA.
¹⁰ Parent Project Onlus, Genitori contro la Distrofia Muscolare di Duchenne & Becker ONLUS, Roma, Italy.
¹¹ SomaLogic Inc., Boulder, CO, USA.
¹² Universita di Ferrara, Dipartemento di Scienze Mediche, Sezione di Genetica Medica, Ferrara, Italy.
¹³ Sarepta Therapeutics, Cambridge, MA, USA.
¹⁴ Reveragen, Rockville, MD, USA.
¹⁵ Critical Path Institute, Duchenne Regulatory Science Consortium, Tucson, AZ, USA.
¹⁶ University of Oxford, Dept. Physiology, Anatomy and Genetics Oxford, UK.
¹⁷ Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
¹⁸ Marathon Pharmaceuticals, Northbrook, IL, USA.
¹⁹ Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK.
²⁰ Pfizer, Cambridge, MA, USA.
²¹ University of Essen, Dept. of Pediatric Neurology, Centre of NMD in childhood and adolescence, Essen, Germany.
²² The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, University of Newcastle upon Tyne, UK.
²³ University of Florida, Dept. of Pharmacology and Therapeutics ARB R5/216, Dept. of Physiology, Gainesville, FL, USA.
²⁴ Summit plc, Abingdon, UK.
²⁵ Muscular Dystrophy UK, London, UK.
²⁶ Duchenne Parent Project, UPPMD, Amsterdam, The Netherlands.
²⁷ PTC Therapeutics, South Plainfield, NJ, USA.

PMID: 29203356
PMCID: PMC5957286
DOI: 10.1016/j.nmd.2017.10.002

No abstract available

Keywords: Biobank; Biomarker; Duchenne muscular dystrophy; Dystrophin; MRI.

PubMed Disclaimer

References

1. Aartsma-Rus A, Ferlini A, Vroom E. Biomarkers and surrogate endpoints in Duchenne: meeting report. Neuromuscul Disord. 2014;24:743–5. - PubMed
1. Qualification of novel methodologies for drug development: guidance to applicants. n.d http://www.ema.europa.eu/docs/en_GB/document_library/Regulatory_and_proc....
1. Biomarker Qualification Program. n.d https://www.fda.gov/Drugs/DevelopmentApprovalProcess/DrugDevelopmentTool....
1. Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, et al. Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy. Lancet Neurol. 2016;15:882–90. - PubMed
1. Duchenne Muscular Dystrophy and Related Dystrophinopathies: Developing Drugs for Treatment Guidance for Industry. n.d https://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformat....

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions

Grants and funding

LinkOut - more resources

Full Text Sources
Other Literature Sources
- The Lens - Patent Citations Database
- scite Smart Citations

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

226^th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands

Collaborators

Affiliations

226^th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands

Authors

Collaborators

Affiliations

References

Publication types

MeSH terms

Substances

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources