Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

• DOI: 10.1186/s13023-022-02568-3
• Publication Date: 2022-11-12T08:02:34Z
• Authors: Louise A. Corben; Veronica Collins; Sarah Milne; Jennifer Farmer; Ann Musheno; David Lynch; Sub Subramony; Massimo Pandolfo; Jörg B. Schulz; Kim Lin; Martin B. Delatycki; ; Hamed Akhlaghi; Sanjay I. Bidicha...; Sylvia Boesch; Miriam Cnop; Manuela Corti; Antoine Duquette; Alexandra Durr; Andreas Eigentler; Anton Emmanuel; John M. Flynn; Noushin Chini For...; Anne Fournier; Marcondes C. França; Paola Giunti; Ellen W. Goh; Lisa Graf; Marios Hadjivassi...; Maggie-Lee Huckabee; Mary G. Kearney; Arnulf H. Koeppen; Yenni Lie; Kimberly Y. Lin; Anja Lowit; Caterina Mariotti; Katherine Mathews; Shana E. McCormack; Lisa Montenegro; Thierry Morlet; Gilles Naeije; Jalesh N. Panicker; Michael H. Parkinson; Aarti Patel; Ronald Mark Payne; Susan Perlman; Roger E. Peverill; Francoise Pousset; Hélène Puccio; Myriam Rai; Gary Rance; Kathrin Reetz; Tennille J. Rowland; Phoebe Sansom; Konstantinos Savv...; Ellika T. Schalling; Ludger Schöls; Barbara Smith; Elisabetta Soragni; Caroline Spencer; Matthis Synofzik; David J. Szmulewicz; Geneieve Tai; Jaclyn Tamaroff; Lauren Treat; Ariane Veilleux C...; Adam P. Vogel; Susan E. Walther; David R. Weber; Neal J. Weisbrod; George Wilmot; Robert B. Wilson; Grace Yoon; Theresa Zesiewicz
• Keywords: Best practice; Grading (engineering); Guideline

Abstract Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, management guidelines (CMGs) were developed 2014. However, the lack of high-certainty evidence and inadequacy accepted metrics measure health status continues present challenges FRDA other rare diseases. overcome these challenges, Grading Recommendations Assessment Evaluation (GRADE) framework diseases by RARE-Bestpractices Working Group was adopted update FRDA. This approach incorporates additional strategies GRADE support strength recommendations, such as review literature similar conditions, systematic collection expert opinion patient perceptions, use natural history data. Methods A panel representing international experts, stakeholders consumer groups provided oversight guideline development within framework. Invited authors generated Patient, Intervention, Comparison, Outcome (PICO) questions guide search (2014 June 2020). Evidence profiles tandem feedback from individuals living registry data observations contributed final recommendations. Authors also statements care points that considered self-evident or not amenable process. Results Seventy experts fifteen topic-specific chapters recommendations and/or statements. New topics since 2014 include emergency medicine, digital assistive technologies a stand-alone section on mental health. evaluated according criteria 130 new 95 generated. Discussion conclusion Evidence-based CMGs are required ensure people Adopting rare-disease enabled higher quality allows individual be updated emerges. While primary goal is better outcomes process developing may help inform