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Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus
D. Moreno-Martinez, P. Aguiar, C. Auray-Blais, M. Beck, DG. Bichet, A. Burlina, D. Cole, P. Elliott, U. Feldt-Rasmussen, S. Feriozzi, J. Fletcher, R. Giugliani, A. Jovanovic, C. Kampmann, M. Langeveld, O. Lidove, A. Linhart, M. Mauer, JC. Moon,...
Language English Country United States
Document type Journal Article
- MeSH
- alpha-Galactosidase genetics MeSH
- Delphi Technique MeSH
- Adult MeSH
- Enzyme Replacement Therapy * MeSH
- Fabry Disease drug therapy genetics metabolism pathology MeSH
- Globosides therapeutic use MeSH
- Glycolipids therapeutic use MeSH
- Isoenzymes genetics MeSH
- Clinical Trials as Topic * MeSH
- Consensus MeSH
- Quality of Life MeSH
- Kidney drug effects metabolism pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Sphingolipids therapeutic use MeSH
- Trihexosylceramides therapeutic use MeSH
- Treatment Outcome MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD. METHODS AND FINDINGS: A broad consensus regarding clinical outcomes and ways to measure them was obtained via the Delphi methodology. 35 FD clinical experts from 4 continents, representing 3389 FD patients, participated in 3 rounds of Delphi procedure. The aim was to reach a consensus regarding clinical trial design, best treatment comparator, clinical outcomes, measurement of those clinical outcomes and inclusion and exclusion criteria. Consensus results of this initiative included: the selection of the adaptative clinical trial as the ideal study design and agalsidase beta as ideal comparator treatment due to its longstanding use in FD. Renal and cardiac outcomes, such as glomerular filtration rate, proteinuria and left ventricular mass index, were prioritised, whereas neurological outcomes including cerebrovascular and white matter lesions were dismissed as a primary or secondary outcome measure. Besides, there was a consensus regarding the importance of patient-related outcomes such as general quality of life, pain, and gastrointestinal symptoms. Also, unity about lysoGb3 and Gb3 tissue deposits as useful surrogate markers of the disease was obtained. The group recognised that cardiac T1 mapping still has potential but requires further development before its widespread introduction in clinical trials. Finally, patients with end-stage renal disease or renal transplant should be excluded unless a particular group for them is created inside the clinical trial. CONCLUSION: This consensus will help to shape the future of clinical trials in FD. We note that the FDA has, coincidentally, recently published draft guidelines on clinical trials in FD and welcome this contribution.
Barts Cardiac Centre University College London London UK
Belfast Heart Centre Royal Victoria Hospital Belfast UK
Cardiac Imaging Department Barts Heart Centre London UK
Clinical Trials Unit Haukeland University Hospital Bergen Norway
Department of Clinical Medicine University of Bergen and Haukeland University Hospital Bergen Norway
Department of Endocrinology and Metabolic Medicine Salford Royal NHS Foundation Trust Salford UK
Department of Internal Medicine Université Paris 7 Hôpital Bichat Claude Bernard Paris France
Department of Medical Biochemistry and Immunology University Hospital of Wales Cardiff Wales UK
Department of Nephrology Royal Melbourne Hospital Melbourne Victoria Australia
Department of Nephrology Royal Perth Hospital Perth Western Australia Australia
Department of Paediatrics University of Minnesota Minneapolis MN United States
Division of Nephrology Belcolle Hospital Viterbo Italy
Division of Nephrology University of Alabama at Birmingham Birmingham AL USA
Fundación Jiménez Díaz Área de Patología Cardiovascular Renal e Hipertensión Madrid Spain
Fundation for the Study of Neurometabolic Diseases FESEN Argentina
Inborn Errors of Metabolism Reference Centre North Lisbon Hospital Centre Lisbon Portugal
Institute of Human Genetics University Medical Centre University of Mainz Mainz Germany
Institute of Metabolic Disease Baylor Research Institute Dallas TX USA
Medical Endocrinology and Metabolism Rigshospitalet Copenhagen Denmark
Medical Genetics Service HCPA Department of Genetics UFRGS Porto Alegre Rio Grande do Sul Brazil
Medicine Dalhousie University Halifax Nova Scotia Canada
Neurological Unit St Bassiano Hospital Bassano del Grappa Italy
References provided by Crossref.org
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