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Title: Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Austin Authors: 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
Affiliation: Golisano Childrens' Hospital, University of Rochester Medical Center, Rochester, NY, USA
University College London, London, UK
Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia
NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK
University College London, London, UK
Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
University of Melbourne, Heidelberg, VIC, Australia
Korle Bu Teaching Hospital, University of Ghana Medical School, Accra, Ghana
Nationwide Children's Hospital, Columbus, OH, USA
Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
Hospital de Niños de La Santísima Trinidad, Cordoba, Argentina
Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto, Riberirao Preto, Brazil..
Coufetery Comms, Lapenne, France
Batten Disease Support and Research Association (BDSRA), Columbus, OH, USA
Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
Children's Hospital of Orange County, Orange County, CA, USA
Regional Coordinating Center for Rare Diseases, University Hospital Udine, Udine, Italy
Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine, Verona, Italy
Ospedale Pediatrico Bambino Gesù, Rome, Italy
Practice for Child Physiotherapy, Hamburg, Germany
Children's Hospital of Orange County, Orange County, CA, USA
Evelina, London Children's Hospital, London, UK
Austin Health
Issue Date: 21-Apr-2021 2021-04-21
Publication information: Orphanet journal of rare diseases 2021; 16(1): 185
Abstract: 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. 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. 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). 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.
DOI: 10.1186/s13023-021-01813-5
ORCID: 0000-0003-4385-4957
Journal: Orphanet journal of rare diseases
PubMed URL: 33882967
Type: Journal Article
Subjects: Batten
Expert mapping
Guideline development program
Key Opinion Leader
Neurodegenerative disorder
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