Search: WFRF:(Schöls Ludger) >
Newborn screening i...
Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
-
- Laugwitz, Lucia (author)
- University of Tübingen
-
- Schoenmakers, Daphne H. (author)
- Academic Medical Center of University of Amsterdam (AMC),Amsterdam Neuroscience
-
- Adang, Laura A. (author)
- The Children's Hospital of Philadelphia
-
show more...
-
- Beck-Woedl, Stefanie (author)
- University of Tübingen
-
- Bergner, Caroline (author)
- University Hospital Leipzig
-
- Bernard, Geneviève (author)
- McGill University
-
- Bley, Annette (author)
- University Medical Center Hamburg-Eppendorf
-
Boyer, Audrey (author)
-
- Calbi, Valeria (author)
- San Raffaele Hospital
-
Dekker, Hanka (author)
-
- Eichler, Florian (author)
- Massachusetts General Hospital
-
- Eklund, Erik (author)
- Lund University,Lunds universitet,Epilepsicentrum,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Epilepsy Center,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund
-
- Fumagalli, Francesca (author)
- San Raffaele Hospital
-
- Gavazzi, Francesco (author)
- The Children's Hospital of Philadelphia
-
- Grønborg, Sabine W. (author)
- Copenhagen University Hospital
-
- van Hasselt, Peter (author)
- University Medical Center Utrecht
-
- Langeveld, Mirjam (author)
- University of Amsterdam
-
- Lindemans, Caroline (author)
- Princess Maxima Center for Pediatric Oncology/Hematology
-
Mochel, Fanny (author)
-
- Oberg, Andreas (author)
- Oslo university hospital
-
- Ram, Dipak (author)
- Royal Manchester Children's Hospital
-
Saunier-Vivar, Elise (author)
-
- Schöls, Ludger (author)
- German Center for Neurodegenerative Diseases (DZNE), Bonn
-
Scholz, Michael (author)
-
- Sevin, Caroline (author)
- University of Paris-Saclay
-
- Zerem, Ayelet (author)
- Tel-Aviv University
-
- Wolf, Nicole I. (author)
- Amsterdam Neuroscience,Academic Medical Center of University of Amsterdam (AMC)
-
- Groeschel, Samuel (author)
- University Hospital of Tubingen
-
show less...
-
(creator_code:org_t)
- 2024
- 2024
- English 14 s.
-
In: European Journal of Paediatric Neurology. - 1090-3798. ; 49, s. 141-154
- Related links:
-
http://dx.doi.org/10... (free)
-
show more...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- Introduction: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically. Newborn screening (NBS) for MLD has recently been shown to be technically feasible and is indicated because of available treatment options. However, there is a lack of guidance on how to monitor and manage identified cases. This study aims to establish consensus among international experts in MLD and patient advocates on clinical management for NBS-identified MLD cases. Methods: A real-time Delphi procedure using eDELPHI software with 22 experts in MLD was performed. Questions, based on a literature review and workshops, were answered during a seven-week period. Three levels of consensus were defined: A) 100%, B) 75–99%, and C) 50–74% or >75% but >25% neutral votes. Recommendations were categorized by agreement level, from strongly recommended to suggested. Patient advocates participated in discussions and were involved in the final consensus. Results: The study presents 57 statements guiding clinical management of NBS-identified MLD patients. Key recommendations include timely communication by MLD experts with identified families, treating early-onset MLD with gene therapy and late-onset MLD with HSCT, as well as pre-treatment monitoring schemes. Specific knowledge gaps were identified, urging prioritized research for future evidence-based guidelines. Discussion: Consensus-based recommendations for NBS in MLD will enhance harmonized management and facilitate integration in national screening programs. Structured data collection and monitoring of screening programs are crucial for evidence generation and future guideline development. Involving patient representatives in the development of recommendations seems essential for NBS programs.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Delphi
- Expert consensus
- Gene therapy
- Lysosomal storage disorder
- Metachromatic leukodystrophy
- Newborn screening
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
-
Laugwitz, Lucia
-
Schoenmakers, Da ...
-
Adang, Laura A.
-
Beck-Woedl, Stef ...
-
Bergner, Carolin ...
-
Bernard, Geneviè ...
-
show more...
-
Bley, Annette
-
Boyer, Audrey
-
Calbi, Valeria
-
Dekker, Hanka
-
Eichler, Florian
-
Eklund, Erik
-
Fumagalli, Franc ...
-
Gavazzi, Frances ...
-
Grønborg, Sabine ...
-
van Hasselt, Pet ...
-
Langeveld, Mirja ...
-
Lindemans, Carol ...
-
Mochel, Fanny
-
Oberg, Andreas
-
Ram, Dipak
-
Saunier-Vivar, E ...
-
Schöls, Ludger
-
Scholz, Michael
-
Sevin, Caroline
-
Zerem, Ayelet
-
Wolf, Nicole I.
-
Groeschel, Samue ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Pediatrics
- Articles in the publication
-
European Journal ...
- By the university
-
Lund University