TY - JOUR
T1 - NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research
T2 - A National Institute for Neurological Disorders and Stroke Project
AU - Lawlor, Michael W.
AU - Iannaccone, Susan T.
AU - Mathews, Katherine
AU - Muntoni, Francesco
AU - Alai-Hansen, Sherita
AU - Odenkirchen, Joanne C.
AU - Feldman, Robin S.
N1 - Funding Information:
Neuropsychology of congenital and acquired neurodevelopmental disorders, social integration and community participation of individuals with disabilities, and pediatric neuromuscular disease Molecular mechanisms underlying early onset muscle disease (congenital muscular dystrophies, congenital myopathies, and reducing body myopathy Congenital muscular dystrophies; merosin-deficient congenital muscular dystrophy Develop therapies for childhood muscle diseases particularly focused on congenital myopathies and muscular dystrophies Childhood Neuromuscular diseases, clinical trials in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Diagnosis and treatment of congenital myopathies, congenital muscular dystrophies, and congenital myasthenic syndromes Pediatric muscle disease; Skeletal muscle pathology and physiology; In vitro models of skeletal muscle function and disease Neuromuscular disorders and the neuropsychological outcome of childhood stroke; FSHD; molecular genetics on neuromuscular diseases Clinical, pathological and genetic aspects related to congenital muscular dystrophies and congenital myopathies. Translational research in Duchenne muscular dystrophy and spinal muscular atrophy Translational research in muscular dystrophy, especially Duchenne muscular dystrophy, congenital muscular dystrophy and limb-girdle muscular dystrophy NINDS: National Institute of Neurological Disorders and Stroke; NIH: National Institutes of Health. 1Also participated in November 2008, March 2009, March 2010, June 2010, September 2010, and October 2010 CMD Meetings listed in Table 1. 2Also participated in March 2009, June 2010, and September 2010 CMD Meetings listed in Table 1. 3Also participated in November 2008 and September 2010 CMD Meetings listed in Table 1. 4Also participated in November 2008 and March 2010 CMD Meetings listed in Table 1. 5Also participated in March 2010, September 2010, and October 2010 CMD Meetings listed in Table 1. 6Also participated in the November 2008 CMD Meeting listed in Table 1.
Funding Information:
Dr. Iannaccone serves on advisory boards (paid) for Sarepta, Santhera and Avexis and she receives research support from Biogen, Avexis, Sarepta, FibroGen and PTC Therapeutics as well as the MDA and NIH.
Funding Information:
aMedical College of Wisconsin, Milwaukee, WI, USA bUniversity of Texas Southwestern Medical Center, Dallas, TX, USA cUniversity of Iowa Children’s Hospital, Iowa City, IA, USA dUniversity College London Great Ormond Street Institute of Child Health, London, UK eNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA fThe EMMES Corporation, Rockville, MD, USA
Funding Information:
One key area of improvement that has already been implemented is the inclusion of patients and patient advocate representatives on current CDE discussion The views expressed here are those of the authors and do not represent those of the National Institutes of Health (NIH), the National Institute of Neurological Disorders and Stroke (NINDS) or the US Government. Logistics support for this project was provided in part through NIH Contract HHSN271201200034C. The development of the NINDS CMD CDEs was made possible thanks to the great investment of time and effort of WG members and the members of the NIH CDE Project team participating from 2007 to 2015.
Funding Information:
Francesco Muntoni is supported by the National Institute of Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. The support of Muscular Dystrophy UK and of the National Commissioning to the Dubowitz Neuromuscular Centre for the national role as the CMD Centre for UK is also gratefully acknowledged.
Funding Information:
NINDS CDE Project Officer, National Institutes of Health/National Institute of Neurological Disorders and Stroke, (NIH/NINDS), Bethesda, MD, USA Robin Conwit, MD Program Director, Office of Clinical Research, National Institutes of Health/National Institute of Neurological Disorders and Stroke, (NIH/NINDS), Bethesda, MD, USA Elizabeth McNeil, MD, MSc Program Director, Office of Clinical Research, National Institutes of Health/National Institute of Neurological Disorders and Stroke, (NIH/NINDS), Bethesda, MD, USA Glen Nuckolls, PhD, Program Director, Extramural Research Program, National Institutes of Health/National Institute of Neurological Disorders and Stroke, (NIH/NINDS), Bethesda, MD, USA Yaffa Rubinstein, PhD Director, Patient Resources for Clinical and Translational Research, Office of Rare Diseases Research, National Institutes of Health, National Center for Advancing Translational Sciences (NIH/NCATS), Bethesda, MD, USA Tiina K. Urv, PhD Dr. Lawlor is a member of the scientific advisory boards for Audentes Therapeutics, and A Foundation Building Strength, and has been supported by sponsored research agreements by Audentes Therapeutics, Solid Biosciences, and Demter/Ichorion Therapeutics. He is also a scientific collaborator with Acceleron Pharma, Pfizer, and Valerion Therapeutics.
Funding Information:
The views expressed here are those of the authors and do not represent those of the National Institutes of Health (NIH), the National Institute of Neurological Disorders and Stroke (NINDS) or the US Government. Logistics support for this project was provided in part through NIH Contract HHSN271201200034C. The development of the NINDS CMD CDEs was made possible thanks to the great investment of time and effort of WG members and the members of the NIH CDE Project team participating from 2007 to 2015. Michael Lawlor's work in this program was supported by his involvement in the Congenital Muscle Disease Tissue Repository, which is supported by A Foundation Building Strength, Cure CMD, Where There's A Will There's A Cure, Audentes Therapeutics, Solid Biosciences and several additional private donors. Francesco Muntoni is supported by the National Institute of Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. The support of Muscular Dystrophy UK and of the National Commissioning to the Dubowitz Neuromuscular Centre for the national role as the CMD Centre for UK is also gratefully acknowledged.
Publisher Copyright:
© 2018 - IOS Press and the authors. All rights reserved.
PY - 2018
Y1 - 2018
N2 - Background: A Congenital Muscular Dystrophy (CMD) Working Group (WG) consisting of international experts reviewed common data elements (CDEs) previously developed for other neuromuscular diseases (NMDs) and made recommendations for all types of studies on CMD. Objectives: To develop a comprehensive set of CDEs, data definitions, case report forms and guidelines for use in CMD clinical research to facilitate interoperability of data collection, as part of the CDE project at the National Institute of Neurological Disorders and Stroke (NINDS). Methods: One working group composed of ten experts reviewed existing NINDS CDEs and outcome measures, evaluated the need for new elements, and provided recommendations for CMD clinical research. The recommendations were compiled, internally reviewed by the CMD working group, and posted online for external public comment. The CMD working group and the NIH CDE team reviewed the final version before release. Results: The NINDS CMD CDEs and supporting documents are publicly available on the NINDS CDE website (https://www.commondataelements.ninds.nih.gov/CMD.aspx#tab=Data-Standards). Content areas include demographics, social status, health history, physical examination, diagnostic tests, and guidelines for a variety of specific outcomes and endpoints. The CMD CDE WG selected these documents from existing versions that were generated by other disease area working groups. Some documents were tailored to maximize their suitability for the CMD field. Conclusions: Widespread use of CDEs can facilitate CMD clinical research and trial design, data sharing and retrospective analyses. The CDEs that are most relevant to CMD research are like those generated for other NMDs, and CDE documents tailored to CMD are now available to the public. The existence of a single source for these documents facilitates their use in research studies and offers a clear mechanism for the discussion and update of the information as knowledge is gained.
AB - Background: A Congenital Muscular Dystrophy (CMD) Working Group (WG) consisting of international experts reviewed common data elements (CDEs) previously developed for other neuromuscular diseases (NMDs) and made recommendations for all types of studies on CMD. Objectives: To develop a comprehensive set of CDEs, data definitions, case report forms and guidelines for use in CMD clinical research to facilitate interoperability of data collection, as part of the CDE project at the National Institute of Neurological Disorders and Stroke (NINDS). Methods: One working group composed of ten experts reviewed existing NINDS CDEs and outcome measures, evaluated the need for new elements, and provided recommendations for CMD clinical research. The recommendations were compiled, internally reviewed by the CMD working group, and posted online for external public comment. The CMD working group and the NIH CDE team reviewed the final version before release. Results: The NINDS CMD CDEs and supporting documents are publicly available on the NINDS CDE website (https://www.commondataelements.ninds.nih.gov/CMD.aspx#tab=Data-Standards). Content areas include demographics, social status, health history, physical examination, diagnostic tests, and guidelines for a variety of specific outcomes and endpoints. The CMD CDE WG selected these documents from existing versions that were generated by other disease area working groups. Some documents were tailored to maximize their suitability for the CMD field. Conclusions: Widespread use of CDEs can facilitate CMD clinical research and trial design, data sharing and retrospective analyses. The CDEs that are most relevant to CMD research are like those generated for other NMDs, and CDE documents tailored to CMD are now available to the public. The existence of a single source for these documents facilitates their use in research studies and offers a clear mechanism for the discussion and update of the information as knowledge is gained.
KW - Common data elements
KW - congenital muscular dystrophy
KW - neuromuscular disease
KW - standardization
UR - http://www.scopus.com/inward/record.url?scp=85043695419&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85043695419&partnerID=8YFLogxK
U2 - 10.3233/JND-170248
DO - 10.3233/JND-170248
M3 - Article
C2 - 29480213
AN - SCOPUS:85043695419
VL - 5
SP - 75
EP - 84
JO - Journal of Neuromuscular Diseases
JF - Journal of Neuromuscular Diseases
SN - 2214-3599
IS - 1
ER -