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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) by Daphne H. Schoenmakers; Shanice Beerepoot; Sibren van den Berg; Laura Adang; Annette Bley; Jaap-Jan Boelens; Francesca Fumagalli; Wim G. Goettsch; Sabine Grønborg; Samuel Groeschel; Peter M. van Hasselt; Carla E. M. Hollak; Caroline Lindemans; Fanny Mochel; Peter G. M. Mol; Caroline Sevin; Ayelet Zerem; Ludger Schöls; Nicole I. Wolf is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) about?

## Abstract ## Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death. Recently, new treatment modalities, including gene therapy and enzyme replacement therapy, have been developed. Those advances increase the need for high-quality research infrastructure to adequately compare treatments, execute post-marketing surveillance, and perform health technology assessments (HTA). To facilitate this, a group of MLD experts started the MLD initiative (MLDi) and initiated an academia-led European MLD registry: the MLDi. An expert-based consensus procedure, namely a modified Delphi procedure, was used to determine the data elements required to answer academic, regulatory, and HTA research questions. ## Results Three distinct sets of data elements were defined by the 13-member expert panel. The minimal set (n = 13) contained demographics and basic disease characteristics. The core set (n = 55) included functional status scores in terms of motor, manual, speech and eating abilities, and causal and supportive treatment characteristics. Health-related quality of life scores were included th

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Author

Daphne H. Schoenmakers; Shanice Beerepoot; Sibren van den Berg; Laura Adang; Annette Bley; Jaap-Jan Boelens; Francesca Fumagalli; Wim G. Goettsch; Sabine Grønborg; Samuel Groeschel; Peter M. van Hasselt; Carla E. M. Hollak; Caroline Lindemans; Fanny Mochel; Peter G. M. Mol; Caroline Sevin; Ayelet Zerem; Ludger Schöls; Nicole I. Wolf

Publisher

Springer Science and Business Media LLC

Published

2022

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)