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 i...
| Main Authors: | , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-02-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02189-w |
| _version_ | 1818281543040237568 |
|---|---|
| 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 |
| author_facet | 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 |
| author_sort | Daphne H. Schoenmakers |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T00:06:47Z |
| format | Article |
| id | doaj.art-8c393f5208e146328f0af2066de15352 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-13T00:06:47Z |
| publishDate | 2022-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-8c393f5208e146328f0af2066de153522022-12-22T00:06:11ZengBMCOrphanet Journal of Rare Diseases1750-11722022-02-0117111410.1186/s13023-022-02189-wModified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)Daphne H. Schoenmakers0Shanice Beerepoot1Sibren van den Berg2Laura Adang3Annette Bley4Jaap-Jan Boelens5Francesca Fumagalli6Wim G. Goettsch7Sabine Grønborg8Samuel Groeschel9Peter M. van Hasselt10Carla E. M. Hollak11Caroline Lindemans12Fanny Mochel13Peter G. M. Mol14Caroline Sevin15Ayelet Zerem16Ludger Schöls17Nicole I. Wolf18Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam NeuroscienceAmsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam NeuroscienceDepartment of Endocrinology and Metabolism, Amsterdam University Medical CentersDivision of Neurology, Children’s Hospital of PhiladelphiaUniversity Children’s Hospital, University Medical Center Hamburg EppendorfStem Cell Transplantation and Cellular Therapies Program, Department of Pediatrics, Memorial Sloan Kettering Cancer CenterSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget); IRCCS, San Raffaele Scientific InstituteZorginstituut Nederland (Dutch Health Care Institute)Centre for Inherited Metabolic Diseases, Copenhagen University Hospital (Rigshospitalet)Department of Paediatric Neurology and Developmental Medicine, University Children’s HospitalDepartment of Pediatric Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityDepartment of Endocrinology and Metabolism, Amsterdam University Medical CentersNierkens and Lindemans group, Princess Máxima Center for pediatric oncologyINSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau Et de La Moelle Épinière, ICMDepartment of Clinical Pharmacy and Pharmacology, University Medical Center Groningen, University of GroningenNeuroGenCell, Institut du Cerveau et de la Moelle Épinière, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne UniversitéPediatric Neurology Institute, Tel-Aviv Sourasky Medical CenterDepartment of Neurology and Hertie-Institute for Clinical Brain Research, University of TübingenAmsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam NeuroscienceAbstract 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.https://doi.org/10.1186/s13023-022-02189-wRare disease registryRare diseasesMetachromatic leukodystrophyMLDDelphi procedure |
| spellingShingle | 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 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 Rare disease registry Rare diseases Metachromatic leukodystrophy MLD Delphi procedure |
| title | Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) |
| title_full | Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) |
| title_fullStr | Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) |
| title_full_unstemmed | Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) |
| title_short | Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) |
| title_sort | modified delphi procedure based expert consensus on endpoints for an international disease registry for metachromatic leukodystrophy the european metachromatic leukodystrophy initiative mldi |
| topic | Rare disease registry Rare diseases Metachromatic leukodystrophy MLD Delphi procedure |
| url | https://doi.org/10.1186/s13023-022-02189-w |
| work_keys_str_mv | AT daphnehschoenmakers modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT shanicebeerepoot modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT sibrenvandenberg modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT lauraadang modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT annettebley modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT jaapjanboelens modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT francescafumagalli modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT wimggoettsch modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT sabinegrønborg modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT samuelgroeschel modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT petermvanhasselt modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT carlaemhollak modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT carolinelindemans modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT fannymochel modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT petergmmol modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT carolinesevin modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT ayeletzerem modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT ludgerschols modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi AT nicoleiwolf modifieddelphiprocedurebasedexpertconsensusonendpointsforaninternationaldiseaseregistryformetachromaticleukodystrophytheeuropeanmetachromaticleukodystrophyinitiativemldi |