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Consensus clinical management guidelines for Friedreich ataxia.
Louise A Corben1,2, David Lynch3,4,5, Massimo Pandolfo6
1Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia. louise.corben@vcgs.org.au.
Orphanet Journal of Rare Diseases
|May 1, 2015
Summary
Friedreich ataxia (FRDA) is a common inherited ataxia with no cure. Expert clinicians developed 146 recommendations for FRDA care, highlighting the need for more clinical studies.
Area of Science:
- Neurology
- Genetics
- Clinical Medicine
Background:
- Friedreich ataxia (FRDA) is the most common inherited ataxia in Caucasians, affecting ~1 in 29,000.
- FRDA is a progressive, life-shortening condition with significant impact on patient well-being.
- Currently, no proven treatments exist to slow FRDA progression.
Purpose of the Study:
- To develop evidence-based clinical care guidelines for Friedreich ataxia.
- To provide concise recommendations for health service delivery to individuals with FRDA.
- To identify gaps in clinical research for FRDA.
Main Methods:
- A panel of 39 expert clinicians appraised published evidence on FRDA clinical care.
- Recommendations were based on FRDA-specific data, similar conditions, or expert consensus.
- 146 recommendations were developed for FRDA best practice.
Main Results:
- Developed 146 recommendations for FRDA clinical care and health service delivery.
- 62% of recommendations are based on expert opinion or good practice.
- Highlights a paucity of high-level clinical studies for FRDA.
Conclusions:
- The developed guidelines represent a critical first step in FRDA clinical care.
- There is an urgent need for high-quality clinical studies in Friedreich ataxia.
- Optimizing clinical management and intervention for FRDA requires further research.
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