INTRODUCTION: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for initial assessment, routine follow-up care, and integrated care coordination of patients with AM. METHODS: A modified Delphi method involving 3 rounds of online surveys was used. An independent administrator and 2 nonvoting physician co-chairs managed survey development, anonymous data collection, and analysis. A multidisciplinary panel comprising 20 physicians from 12 countries responded to 57 open-ended questions in the first survey. Round 2 consisted of 11 ranking questions and 44 voting statements. In round 3, panelists voted to validate 60 consensus statements. The panel response rate was ≥95% in all 3 rounds. Panelists used 5-point Likert scales to indicate importance (score of ≥3) or agreement (score of ≥4). Consensus was defined a priori as ≥75% agreement with ≥75% of panelists voting. RESULTS: Consensus was reached on 60 statements, encompassing 3 key areas: initial assessments, routine follow-up care, and treatment-related follow-up. The panel agreed on the type and frequency of assessments related to genetic testing, baseline evaluations, quality of life, biochemical measures, affected body systems, treatment received, and integrated care coordination in patients with AM. Forty-nine statements reached 90% to 100% consensus, 8 statements reached 80% to 85% consensus, and 1 statement reached 75% consensus. Two statements each reached consensus on 15 baseline assessments to be conducted at the initial follow-up visit after diagnosis in pediatric and adult patients. CONCLUSION: This is the first Delphi study providing internationally applicable, best-practice recommendations for monitoring patients with AM that may improve their care and well-being.

Adult Inherited Metabolic Diseases Northern Care Alliance National Health Service Foundation Trust Salford Royal Organization Salford UK

Baylor College of Medicine and Texas Children's Hospital Houston TX USA

Boston Children's Hospital Harvard Medical School Boston MA USA

Center for Pediatric Neurology Muscular Diseases and Social Pediatrics Giessen University Hospital Giessen Germany

Centre for Inherited Metabolic Diseases Copenhagen University Hospital Rigshospitalet and Department of Clinical Medicine University of Copenhagen Copenhagen Denmark

Children's Hospital of Philadelphia Perelman School of Medicine at the University of Pennsylvania Philadelphia PA USA

Department of Pediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University General University Hospital Prague Czech Republic

Division of Genetics Centro de Investigación Biomédica de Occidente Guadalajara Mexico

Federal University of Rio Grande do Sul Porto Alegre Brazil

Greenwood Genetic Center Greenwood SC USA

Hospital Universitario Ramón Y Cajal Instituto Ramón y Cajal de Investigación Sanitaria Madrid Spain

Institute for Inherited Metabolic Diseases and Department of Pediatrics Paracelsus Medical University Salzburg Austria

International Center for Lysosomal Disorders University Medical Center Hamburg Eppendorf Hamburg Germany

Metabolic Clinic and Pediatric Department B Ruth Rappaport Children's Hospital Rambam Health Care Campus Haifa Israel; Rappaport Faculty of Medicine Technion Israel Institute of Technology Haifa Israel

Nicklaus Children's Hospital Miami FL USA

Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago Chicago IL USA

Reference Centre for Inherited Metabolic Diseases Lyon France

Regional Coordinating Center for Rare Diseases University Hospital Udine Italy

Reina Sofía University Hospital Maimonides Biomedical Research Institute of Cordoba Córdoba Spain

Sydney Children's Hospital Network Sydney Australia

The University of Texas Southwestern Medical Center Dallas TX USA

Villa Metabolica University Medical Center Mainz Mainz Germany

References provided by Crossref.org

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey