Duchenne Muscular Dystrophy (DMD) Core Dataset
This page contains information about the core dataset for TREAT-NMD registries which are collecting data on individuals with DMD. This dataset was expanded in February 2021 for clinically reported registries and in May 2021 for patient reported registries in order to better inform on the natural history of DMD, and provide data to support post-marketing surveillance (safety and effectiveness) for new treatments.
Please note that the new versions of the dataset are available below.
Contacts
Project Manager: John McKenna (john.mckenna@treat-nmd.com)
This work is under the governance of the TREAT-NMD Global Data systems Oversight Committee (TGDOC) Chairs:
Chair: Anna Ambrosini (Fondazione Telethon, Milan, Italy)
Chair-Elect: Michela Guglieri (Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom)
Outgoing Chair: Craig Campbell (Children’s Hospital, London Health Sciences Centre and Western University, Canada)
We have recently completed a pilot exercise to evaluate the revised dataset for both clinically and patient reported registries. Our Working Group report on the pilot is available here.
The web based dataset specification reflects the agreed version 1.1 of the TREAT-NMD DMD Core Dataset for Clinically Reported Registries which was previously presented in an Excel version format. Therefore version 1.1 is now obsolete (please do not use)
There have been a limited number of amendments made to the dataset, which align it more closely with its SMA equivalent and some clarifications which increase and improve the quality of options from which users can choose.
Please read the notes before viewing the dataset:
Take time to read the dataset introduction; it is essential to understand how to implement the dataset in your registry.
The dataset is for all registries collecting data on individuals with DMD (clinician/patient/dual reported). However, not all items are mandatory for all registries.
A mandatory data item in the core dataset means that designated registries must include it in their data collection forms and be able to store and provide the data; even if the data is not always available for all individuals.
Personal identifying information on patients will never be requested nor accepted as part of a data submission to TREAT-NMD.
This is a minimum core dataset; registries may collect additional items of local interest or relevance.
TREAT-NMD is an inclusive network. If registries are not able to implement any mandatory items, they are encouraged to identify support needs, and/or a plan to work towards their inclusion and discuss with us.
The web based dataset specification reflects the agreed version 1.1 of the TREAT-NMD DMD Core Dataset for Patient Reported Registries which was previously presented in an Excel version format. Therefore version 1.1 is now obsolete (please do not use)
There have been a limited number of amendments made to the dataset, which align it more closely with its SMA equivalent and some clarifications which increase and improve the quality of options from which users can choose.
Please read the notes before viewing the dataset:
Take time to read the dataset introduction; it is essential to understand how to implement the dataset in your registry.
The dataset is for all registries collecting data on individuals with DMD (clinician/patient/dual reported). However, not all items are mandatory for all registries.
A mandatory data item in the core dataset means that designated registries must include it in their data collection forms and be able to store and provide the data; even if the data is not always available for all individuals.
Personal identifying information on patients will never be requested nor accepted as part of a data submission to TREAT-NMD.
This is a minimum core dataset; registries may collect additional items of local interest or relevance.
TREAT-NMD is an inclusive network. If registries are not able to implement any mandatory items, they are encouraged to identify support needs, and/or a plan to work towards their inclusion and discuss with us.
Version 1.2 of the DMD Core Dataset (web based dataset specification)
Project Manager: John McKenna has managed this project since April 2020.
Project Co-ordinator: Janet Wilkins has been working on the project since July 2020 and supports John with the day to day running of the project.
Supporting the core project team with their expert guidance we have:
TGDOC DMD Subgroup Co-Lead: Dr Ilaria Zito Ilaria Zito, BSc, PhD, specialized in Medical Genetics. She obtained her Science Degree at “La Sapienza” University in Rome, her PhD degree in Molecular Genetics at UCL in London and her degree of specialization in Medical Genetics at “Catholic University” in Rome. After several years in the research field, where she worked on genetic diseases such as Fragile-X Syndrome and Retinitis Pigmentosa, she moved on to the diagnostics field, where she performed genetic counselling, genetic screening of the most common genetic diseases and NIPT analysis. In 2018 she left the bench to join Parent Project aps in Rome, where she works in the scientific office and is the curator of the Italian DMD/BMD Patient Registry.
TGDOC DMD Subgroup Co-Lead: Ann Martin, MS, CGC is a certified genetic counselor with Parent Project Muscular Dystrophy (PPMD) and Director of The Duchenne Registry (formerly DuchenneConnect). Ann has been employed by PPMD since 2011. Her role with the Registry includes managing data curation, handling data requests and exports, coordinating clinical trial and research study recruitment and writing educational content.
IT consultant: Marcel Heidemann is an IT consultant and software developer who has been involved with neuromuscular registries since 2008. He developed the patient registry platform for the LMU Munich hospital which is now used for 12 neuromuscular registries based in Munich and Newcastle. Marcel holds a Master’s degree from LMU Munich in philosophy, biology and political science.
Principal Investigator: Dr Michela Guglieri is a Senior Clinical Lecturer and Consultant Neurologist at Newcastle University and Newcastle Hospitals NHS Foundation Trust. Michela has a specific interest in care, management and translational research in inherited neuromuscular disorders. She obtained her medical degree at Milan University where she also completed her neurology residency, before moving to Newcastle specifically to develop expertise in translational research and clinical trials. Michela has been involved in several clinical trials in Duchenne muscular dystrophy (DMD) and other neuromuscular disorders and is study chair for two large international trials in DMD