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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)

Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

Harvard

Schoenmakers, DH, Beerepoot, S, van den Berg, S, Adang, L, Bley, A, Boelens, JJ, Fumagalli, F, Goettsch, WG, Grønborg, S, Groeschel, S, van Hasselt, PM, Hollak, CEM, Lindemans, C, Mochel, F, Mol, PGM, Sevin, C, Zerem, A, Schöls, L & Wolf, NI 2022, 'Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)', Orphanet Journal of Rare Diseases, bind 17, nr. 1, 48. https://doi.org/10.1186/s13023-022-02189-w

APA

Schoenmakers, D. H., Beerepoot, S., van den Berg, S., Adang, L., Bley, A., Boelens, J. J., Fumagalli, F., Goettsch, W. G., Grønborg, S., Groeschel, S., van Hasselt, P. M., Hollak, C. E. M., Lindemans, C., Mochel, F., Mol, P. G. M., Sevin, C., Zerem, A., Schöls, L., & Wolf, N. I. (2022). Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi). Orphanet Journal of Rare Diseases, 17(1), [48]. https://doi.org/10.1186/s13023-022-02189-w

CBE

Schoenmakers DH, Beerepoot S, van den Berg S, Adang L, Bley A, Boelens JJ, Fumagalli F, Goettsch WG, Grønborg S, Groeschel S, van Hasselt PM, Hollak CEM, Lindemans C, Mochel F, Mol PGM, Sevin C, Zerem A, Schöls L, Wolf NI. 2022. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi). Orphanet Journal of Rare Diseases. 17(1):Article 48. https://doi.org/10.1186/s13023-022-02189-w

MLA

Vancouver

Author

Schoenmakers, Daphne H. ; Beerepoot, Shanice ; van den Berg, Sibren ; Adang, Laura ; Bley, Annette ; Boelens, Jaap Jan ; Fumagalli, Francesca ; Goettsch, Wim G. ; Grønborg, Sabine ; Groeschel, Samuel ; van Hasselt, Peter M. ; Hollak, Carla E.M. ; Lindemans, Caroline ; Mochel, Fanny ; Mol, Peter G.M. ; Sevin, Caroline ; Zerem, Ayelet ; Schöls, Ludger ; Wolf, Nicole I. / Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy : The European Metachromatic Leukodystrophy initiative (MLDi). I: Orphanet Journal of Rare Diseases. 2022 ; Bind 17, Nr. 1.

Bibtex

@article{85bcedb8ae41459f86bdcac38d6b2550,
title = "Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)",
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 that were also deemed necessary for HTA. The optional set (n = 31) contained additional clinical aspects, such as findings at neurological examination, detailed motor function, presence of peripheral neuropathy, gall bladder involvement and micturition. Conclusion: Using a modified Delphi procedure with physicians from the main expert centers, consensus was reached on a core set of data that can be collected retrospectively and prospectively. With this consensus-based approach, an important step towards harmonization was made. This unique dataset will support knowledge about the disease and facilitate regulatory requirements related to the launch of new treatments.",
keywords = "Delphi procedure, Metachromatic leukodystrophy, MLD, Rare disease registry, Rare diseases",
author = "Schoenmakers, {Daphne H.} and Shanice Beerepoot and {van den Berg}, Sibren and Laura Adang and Annette Bley and Boelens, {Jaap Jan} and Francesca Fumagalli and Goettsch, {Wim G.} and Sabine Gr{\o}nborg and Samuel Groeschel and {van Hasselt}, {Peter M.} and Hollak, {Carla E.M.} and Caroline Lindemans and Fanny Mochel and Mol, {Peter G.M.} and Caroline Sevin and Ayelet Zerem and Ludger Sch{\"o}ls and Wolf, {Nicole I.}",
note = "Publisher Copyright: {\textcopyright} 2022, The Author(s).",
year = "2022",
month = dec,
doi = "10.1186/s13023-022-02189-w",
language = "English",
volume = "17",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central Ltd",
number = "1",

}

RIS

TY - JOUR

T1 - Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy

T2 - The European Metachromatic Leukodystrophy initiative (MLDi)

AU - Schoenmakers, Daphne H.

AU - Beerepoot, Shanice

AU - van den Berg, Sibren

AU - Adang, Laura

AU - Bley, Annette

AU - Boelens, Jaap Jan

AU - Fumagalli, Francesca

AU - Goettsch, Wim G.

AU - Grønborg, Sabine

AU - Groeschel, Samuel

AU - van Hasselt, Peter M.

AU - Hollak, Carla E.M.

AU - Lindemans, Caroline

AU - Mochel, Fanny

AU - Mol, Peter G.M.

AU - Sevin, Caroline

AU - Zerem, Ayelet

AU - Schöls, Ludger

AU - Wolf, Nicole I.

N1 - Publisher Copyright: © 2022, The Author(s).

PY - 2022/12

Y1 - 2022/12

N2 - 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 that were also deemed necessary for HTA. The optional set (n = 31) contained additional clinical aspects, such as findings at neurological examination, detailed motor function, presence of peripheral neuropathy, gall bladder involvement and micturition. Conclusion: Using a modified Delphi procedure with physicians from the main expert centers, consensus was reached on a core set of data that can be collected retrospectively and prospectively. With this consensus-based approach, an important step towards harmonization was made. This unique dataset will support knowledge about the disease and facilitate regulatory requirements related to the launch of new treatments.

AB - 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 that were also deemed necessary for HTA. The optional set (n = 31) contained additional clinical aspects, such as findings at neurological examination, detailed motor function, presence of peripheral neuropathy, gall bladder involvement and micturition. Conclusion: Using a modified Delphi procedure with physicians from the main expert centers, consensus was reached on a core set of data that can be collected retrospectively and prospectively. With this consensus-based approach, an important step towards harmonization was made. This unique dataset will support knowledge about the disease and facilitate regulatory requirements related to the launch of new treatments.

KW - Delphi procedure

KW - Metachromatic leukodystrophy

KW - MLD

KW - Rare disease registry

KW - Rare diseases

UR - http://www.scopus.com/inward/record.url?scp=85124618706&partnerID=8YFLogxK

U2 - 10.1186/s13023-022-02189-w

DO - 10.1186/s13023-022-02189-w

M3 - Journal article

C2 - 35164810

AN - SCOPUS:85124618706

VL - 17

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 1

M1 - 48

ER -

ID: 79410352