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 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 a new version of the dataset (v1.1) was released on 22-02-2021; available below.
We are currently in the process of agreeing a Patient Reported DMD Core Dataset V1.1.
Contacts
Project Manager: John McKenna (john.mckenna@treat-nmd.com)
Project Coordinator: Janet Wilkins (janet.wilkins@ treat-nmd.com)
This work is under the governance of the TREAT-NMD Global Database 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.
Clinically Reported Registries
Below is a link to version 1.1 of the TREAT-NMD DMD dataset for clinically reported registries as approved by the Principal Investigator , Dr Michela Guglieri , the Chairs of TGDOC and ratified by the Project’s Working Group at 22nd February 2021. This is the current official version of the dataset for clinically reported registries:
DMD Core Dataset (Version 1.1, 2021)
Core Project Team
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.
Subject Matter Experts
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.
