Thibaud Damy1, Isabel Conceição2,3, Pablo García-Pavía4,5, Julian Gillmore6, Ravi Jandhyala7,8, Jan Sabbat9, Jonas Wixner10, Teresa Coelho11,12. 1. Department of Cardiology, Referral Center for Cardiac Amyloidosis, GRC Amyloid Research Institute, DHU A-TVB, APHP CHU Henri Mondor and Université Paris Est Créteil, Créteil, France. 2. Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal. 3. Department of Neurosciences and Mental Health, CHULN-Hospital de Santa Maria, CHULN, Hospital de Santa Maria, Lisboa, Portugal. 4. Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Madrid, Spain. 5. Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcon, Spain. 6. Division of Medicine, National Amyloidosis Centre, University College London, London, UK. 7. Medialis Ltd., Banbury, UK. 8. Centre for Pharmaceutical Medicine Research, Institute of Pharmaceutical Science, Faculty of Life Science & Medicine, King's College University, London, UK. 9. Akcea Therapeutics UK, Surrey, UK. 10. Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden. 11. Andrade's Center for Familial Amyloidosis, Porto, Portugal. 12. Department of Neurosciences, Hospital de Santo António, Porto, Portugal.
Abstract
BACKGROUND: Hereditary transthyretin (ATTRv) amyloidosis is a progressive multisystemic disease of adult-onset that arises from an inherited mutation in the transthyretin gene. Currently available disease severity and progression evaluation tools only cover one single organ or system, impacting data collection uniformity and its use in clinical settings. METHODS: The Jandhyala Method, including a systematic literature review and SMART interviews, was used to observe expert opinion from eight leaders in the treatment of ATTRv across Europe. The aim was to propose a multidisciplinary core dataset (CD) and disease severity scoring (DSS) tools. RESULTS: The multidisciplinary team of experts identified 140 indicators that form part of the standard diagnostic and monitoring practice (SDMP) and should be collected as the ATTRv CD. Thirty-one (22%) of these indicators informed disease severity and comprised the ATTRv DSS, whilst 25 (18%) were deemed to monitor disease progression. CONCLUSIONS: The resulting CD and DSS have different purposes. The ATTRv CD supports the collection of high-quality data for clinical research, whereas the ATTRv DSS can be rapidly conducted in a clinical setting and aid patient management.
BACKGROUND: Hereditary transthyretin (ATTRv) amyloidosis is a progressive multisystemic disease of adult-onset that arises from an inherited mutation in the transthyretin gene. Currently available disease severity and progression evaluation tools only cover one single organ or system, impacting data collection uniformity and its use in clinical settings. METHODS: The Jandhyala Method, including a systematic literature review and SMART interviews, was used to observe expert opinion from eight leaders in the treatment of ATTRv across Europe. The aim was to propose a multidisciplinary core dataset (CD) and disease severity scoring (DSS) tools. RESULTS: The multidisciplinary team of experts identified 140 indicators that form part of the standard diagnostic and monitoring practice (SDMP) and should be collected as the ATTRv CD. Thirty-one (22%) of these indicators informed disease severity and comprised the ATTRv DSS, whilst 25 (18%) were deemed to monitor disease progression. CONCLUSIONS: The resulting CD and DSS have different purposes. The ATTRv CD supports the collection of high-quality data for clinical research, whereas the ATTRv DSS can be rapidly conducted in a clinical setting and aid patient management.