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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
BACKGROUND: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis....
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059011/ https://www.ncbi.nlm.nih.gov/pubmed/33882967 http://dx.doi.org/10.1186/s13023-021-01813-5 |
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author | Mole, Sara E. Schulz, Angela Badoe, Eben Berkovic, Samuel F. de Los Reyes, Emily C. Dulz, Simon Gissen, Paul Guelbert, Norberto Lourenco, Charles M. Mason, Heather L. Mink, Jonathan W. Murphy, Noreen Nickel, Miriam Olaya, Joffre E. Scarpa, Maurizio Scheffer, Ingrid E. Simonati, Alessandro Specchio, Nicola Von Löbbecke, Ina Wang, Raymond Y. Williams, Ruth E. |
author_facet | Mole, Sara E. Schulz, Angela Badoe, Eben Berkovic, Samuel F. de Los Reyes, Emily C. Dulz, Simon Gissen, Paul Guelbert, Norberto Lourenco, Charles M. Mason, Heather L. Mink, Jonathan W. Murphy, Noreen Nickel, Miriam Olaya, Joffre E. Scarpa, Maurizio Scheffer, Ingrid E. Simonati, Alessandro Specchio, Nicola Von Löbbecke, Ina Wang, Raymond Y. Williams, Ruth E. |
author_sort | Mole, Sara E. |
collection | PubMed |
description | BACKGROUND: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, expert-agreed recommendations on the risks/benefits of disease-modifying treatments and the medical interventions used to manage this condition. METHODS: An expert mapping tool process was developed ranking multidisciplinary professionals, with knowledge of CLN2 disease, diagnostic or management experience of CLN2 disease, or family support professionals. Individuals were sequentially approached to identify two chairs, ensuring that the process was transparent and unbiased. A systematic literature review of published evidence using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidance was independently and simultaneously conducted to develop key statements based upon the strength of the publications. Clinical care statements formed the basis of an international modified Delphi consensus determination process using the virtual meeting (Within3) online platform which requested experts to agree or disagree with any changes. Statements reaching the consensus mark became the guiding statements within this manuscript, which were subsequently assessed against the Appraisal of Guidelines for Research and Evaluation (AGREEII) criteria. RESULTS: Twenty-one international experts from 7 different specialities, including a patient advocate, were identified. Fifty-three guideline statements were developed covering 13 domains: General Description and Statements, Diagnostics, Clinical Recommendations and Management, Assessments, Interventions and Treatment, Additional Care Considerations, Social Care Considerations, Pain Management, Epilepsy / Seizures, Nutritional Care Interventions, Respiratory Health, Sleep and Rest, and End of Life Care. Consensus was reached after a single round of voting, with one exception which was revised, and agreed by 100% of the SC and achieved 80% consensus in the second voting round. The overall AGREE II assessment score obtained for the development of the guidelines was 5.7 (where 1 represents the lowest quality, and 7 represents the highest quality). CONCLUSION: This program provides robust evidence- and consensus-driven guidelines that can be used by all healthcare professionals involved in the management of patients with CLN2 disease and other neurodegenerative disorders. This addresses the clinical need to complement other information available. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01813-5. |
format | Online Article Text |
id | pubmed-8059011 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-80590112021-04-21 Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients Mole, Sara E. Schulz, Angela Badoe, Eben Berkovic, Samuel F. de Los Reyes, Emily C. Dulz, Simon Gissen, Paul Guelbert, Norberto Lourenco, Charles M. Mason, Heather L. Mink, Jonathan W. Murphy, Noreen Nickel, Miriam Olaya, Joffre E. Scarpa, Maurizio Scheffer, Ingrid E. Simonati, Alessandro Specchio, Nicola Von Löbbecke, Ina Wang, Raymond Y. Williams, Ruth E. Orphanet J Rare Dis Research BACKGROUND: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, expert-agreed recommendations on the risks/benefits of disease-modifying treatments and the medical interventions used to manage this condition. METHODS: An expert mapping tool process was developed ranking multidisciplinary professionals, with knowledge of CLN2 disease, diagnostic or management experience of CLN2 disease, or family support professionals. Individuals were sequentially approached to identify two chairs, ensuring that the process was transparent and unbiased. A systematic literature review of published evidence using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidance was independently and simultaneously conducted to develop key statements based upon the strength of the publications. Clinical care statements formed the basis of an international modified Delphi consensus determination process using the virtual meeting (Within3) online platform which requested experts to agree or disagree with any changes. Statements reaching the consensus mark became the guiding statements within this manuscript, which were subsequently assessed against the Appraisal of Guidelines for Research and Evaluation (AGREEII) criteria. RESULTS: Twenty-one international experts from 7 different specialities, including a patient advocate, were identified. Fifty-three guideline statements were developed covering 13 domains: General Description and Statements, Diagnostics, Clinical Recommendations and Management, Assessments, Interventions and Treatment, Additional Care Considerations, Social Care Considerations, Pain Management, Epilepsy / Seizures, Nutritional Care Interventions, Respiratory Health, Sleep and Rest, and End of Life Care. Consensus was reached after a single round of voting, with one exception which was revised, and agreed by 100% of the SC and achieved 80% consensus in the second voting round. The overall AGREE II assessment score obtained for the development of the guidelines was 5.7 (where 1 represents the lowest quality, and 7 represents the highest quality). CONCLUSION: This program provides robust evidence- and consensus-driven guidelines that can be used by all healthcare professionals involved in the management of patients with CLN2 disease and other neurodegenerative disorders. This addresses the clinical need to complement other information available. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01813-5. BioMed Central 2021-04-21 /pmc/articles/PMC8059011/ /pubmed/33882967 http://dx.doi.org/10.1186/s13023-021-01813-5 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Mole, Sara E. Schulz, Angela Badoe, Eben Berkovic, Samuel F. de Los Reyes, Emily C. Dulz, Simon Gissen, Paul Guelbert, Norberto Lourenco, Charles M. Mason, Heather L. Mink, Jonathan W. Murphy, Noreen Nickel, Miriam Olaya, Joffre E. Scarpa, Maurizio Scheffer, Ingrid E. Simonati, Alessandro Specchio, Nicola Von Löbbecke, Ina Wang, Raymond Y. Williams, Ruth E. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients |
title | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients |
title_full | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients |
title_fullStr | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients |
title_full_unstemmed | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients |
title_short | Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients |
title_sort | guidelines on the diagnosis, clinical assessments, treatment and management for cln2 disease patients |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059011/ https://www.ncbi.nlm.nih.gov/pubmed/33882967 http://dx.doi.org/10.1186/s13023-021-01813-5 |
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