Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Quality of Life Research
Published in: Quality of Life Research 10/2021

Open Access 01-10-2021 | Diarrhea

FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument

Authors: Alan L. Shields, Roger E. Lamoureux, Fiona Taylor, Jay A. Barth, Andrew E. Mulberg, Vivian Kessler, Nina Skuban

Published in: Quality of Life Research | Issue 10/2021

Login to get access

Abstract

Purpose

Fabry disease is a rare multisystemic disorder caused by functional deficiency of the lysosomal enzyme alpha-galactosidase A. Gastrointestinal (GI) signs and symptoms are among the earliest clinical manifestations in patients with Fabry disease but are often nonspecific, misdiagnosed, and untreated. No instruments have been developed specifically to assess GI signs and symptoms in Fabry disease. The FABry disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI) was developed to address this unmet need and is intended for use in clinical trials (24-h FABPRO-GI) and real-world settings (7-day FABPRO-GI).

Methods

Findings from a literature review, expert advisory meetings, and patient concept elicitation interviews (CEIs) were summarized into conceptual models. These conceptual models were used to develop preliminary versions of the 24-h and 7-day FABPRO-GI. Cognitive debriefing interviews (CDIs) were conducted with additional patients to assess content validity, including understandability, relevance, and comprehensiveness of the preliminary versions of the 24-h and 7-day FABPRO-GI.

Results

Literature review (n = 17 articles), expert advisory meetings (n = 5), and patient CEIs (n = 17) identified mostly overlapping Fabry disease-related GI signs and symptoms, including abdominal cramps, bloating, and diarrhea, and informed development of the preliminary 24-h and 7-day FABPRO-GI. CDIs (n = 15) provided evidence of content validity and informed revisions of the 24-h and 7-day FABPRO-GI.

Conclusion

With evidence of content validity, the 24-h and 7-day FABPRO-GI are the first Fabry disease-specific patient-reported outcomes to assess GI signs and symptoms in patients with Fabry disease with potential for use in clinical trials and real-world settings, respectively.
Appendix
Available only for authorised users
Literature
1.
Germain, D. P. (2010). Fabry disease. Orphanet Journal of Rare Diseases, 5, 30CrossRef
2.
Desnick, R. J., Ioannou, Y., & Eng, C. M. (2016). a-Galactosidase A deficiency: Fabry disease. In: D. Valle, A. L. Beaudet, B. Vogelstein, K. W. Kinzler, E. S. Antonarakis, A. Ballabio, et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease: McGraw-Hill Companies, Inc.
3.
Sanchez-Nino, M. D., Carpio, D., Sanz, A. B., Ruiz-Ortega, M., Mezzano, S., & Ortiz, A. (2015). Lyso-Gb3 activates Notch1 in human podocytes. Human Molecular Genetics, 24(20), 5720–5732CrossRef
4.
Anders, H. J., Banas, B., & Schlondorff, D. (2004). Signaling danger: toll-like receptors and their potential roles in kidney disease. Journal of the American Society of Nephrology, 15(4), 854–867CrossRef
5.
Rozenfeld, P., & Feriozzi, S. (2017). Contribution of inflammatory pathways to Fabry disease pathogenesis. Molecular Genetics and Metabolism, 122(3), 19–27CrossRef
6.
Schiffmann, R. (2015). Fabry disease. Handbook of Clinical Neurology, 132, 231–248CrossRef
7.
Hoffmann, B., Schwarz, M., Mehta, A., Keshav, S., & Investigators, F. O. S. E. (2007). Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clinical Gastroenterology and Hepatology, 5(12), 1447–1453CrossRef
8.
Gold, K. F., Pastores, G. M., Botteman, M. F., Yeh, J. M., Sweeney, S., Aliski, W., et al. (2002). Quality of life of patients with Fabry disease. Quality of Life Research, 11(4), 317–327CrossRef
9.
Mehta, A., Ricci, R., Widmer, U., Dehout, F., Garcia de Lorenzo, A., Kampmann, C., et al. (2004). Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. European Journal of Clinical Investigation, 34(3), 236–242CrossRef
10.
MacDermot, K. D., Holmes, A., & Miners, A. H. (2001). Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. Journal of Medical Genetics, 38(11), 750–760CrossRef
11.
Hilz, M. J., Arbustini, E., Dagna, L., Gasbarrini, A., Goizet, C., Lacombe, D., et al. (2018). Non-specific gastrointestinal features: Could it be Fabry disease? Digestive and Liver Disease, 50(5), 429–437CrossRef
12.
Genzyme Corporation (2007). Fabry RADAR 2007 The Fabry Registry Aggregate Data Annual Report: 1–26.
13.
Zar-Kessler, C., Karaa, A., Sims, K. B., Clarke, V., & Kuo, B. (2016). Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis. Therapeutic Advances in Gastroenterology, 9(4), 626–634CrossRef
14.
Pensabene, L., Sestito, S., Nicoletti, A., Graziano, F., Strisciuglio, P., & Concolino, D. (2016). Gastrointestinal symptoms of patients with Fabry disease. Gastroenterology Research and Practice, 2016, 9712831CrossRef
15.
Marchesoni, C. L., Roa, N., Pardal, A. M., Neumann, P., Cáceres, G., Martínez, P., et al. (2010). Misdiagnosis in Fabry disease. Journal of Pediatrics, 156(5), 828–831CrossRef
16.
Replagal. Summary of Product Characteristics. Shire Pharmaceuticals Limited; 2021.
17.
Fabrazyme. Prescribing information. Genzyme Corporation; 2018.
18.
Galafold. Prescribing information. Amicus Therapeutics Inc; 2020.
19.
Schiffmann, R., Hughes, D. A., Linthorst, G. E., Ortiz, A., Svarstad, E., Warnock, D. G., et al. (2017). Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney International, 91(2), 284–293CrossRef
20.
Dehout, F., Roland, D., Treille de Granseigne, S., Guillaume, B., & Van Maldergem, L. (2004). Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease. Journal of Inherited Metabolic Disease, 27(4), 499–505CrossRef
21.
Germain, D. P., Hughes, D. A., Nicholls, K., Bichet, D. G., Giugliani, R., Wilcox, W. R., et al. (2016). Treatment of Fabry’s disease with the pharmacologic chaperone migalastat. New England Journal of Medicine, 375(6), 545–555CrossRef
22.
Wilcox, W. R., Feldt-Rasmussen, U., Martins, A. M., Ortiz, A., Lemay, R. M., Jovanovic, A., et al. (2018). Improvement of Fabry disease-related gastrointestinal symptoms in a significant proportion of female patients treated with agalsidase beta: data from the Fabry registry. JIMD Rep, 38, 45–51CrossRef
23.
Schiffmann, R., Bichet, D. G., Jovanovic, A., Hughes, D. A., Giugliani, R., Feldt-Rasmussen, U., et al. (2018). Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet Journal of Rare Diseases, 13(1), 68CrossRef
24.
Wraith, J. E., Tylki-Szymanska, A., Guffon, N., Lien, Y. H., Tsimaratos, M., Vellodi, A., et al. (2008). Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. Journal of Pediatrics, 152(4), 563–570CrossRef
25.
Øvretveit, J., Zubkoff, L., Nelson, E. C., Frampton, S., Knudsen, J. L., & Zimlichman, E. (2017). Using patient-reported outcome measurement to improve patient care. International Journal for Quality in Health Care, 29(6), 874–879CrossRef
26.
Armstrong, A. W., Banderas, B., Foley, C., Stokes, J., Sundaram, M., & Shields, A. L. (2017). Development and psychometric evaluation of the self-assessment of psoriasis symptoms (SAPS) - clinical trial and the SAPS - real world patient-reported outcomes. The Journal of Dermatological Treatment, 28(6), 505–514CrossRef
27.
Patrick, D. L., Burke, L. B., Gwaltney, C. J., Leidy, N. K., Martin, M. L., Molsen, E., et al. (2011). Content validity–establishing and reporting the evidence in newly developed patient-reported outcomes (PRO) instruments for medical product evaluation: ISPOR PRO Good Research Practices Task Force report: part 2–assessing respondent understanding. Value in Health, 14(8), 978–988CrossRef
28.
US Department of Health and Human Services FDA Center for Drug Evalution and Research, US Department of Health and Human Services FDA Center for Biologics Evaluation and Research, and US Department of Health and Human Services FDA Center for Devices and Radiological Health. Guidance for industry: patient-reported outcome measures: use in medical product development to support labeling claims: draft guidance (2006). Health Qual Life Outcomes, 4, 79
29.
Wilson, I. B., & Cleary, P. D. (1995). Linking clinical variables with health-related quality of life. A conceptual model of patient outcomes. JAMA, 273(1), 59–65CrossRef
30.
Svedlund, J., Sjodin, I., & Dotevall, G. (1988). GSRS–a clinical rating scale for gastrointestinal symptoms in patients with irritable bowel syndrome and peptic ulcer disease. Digestive Diseases and Sciences, 33(2), 129–134CrossRef
31.
Drossman, D. A. (2006). The functional gastrointestinal disorders and the rome III process. Gastroenterology, 130, 1377–1390CrossRef
32.
33.
Noël, E., Dussol, B., Lacombe, D., Bedreddine, N., Fouilhoux, A., Ronco, P., et al. (2019). Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet Journal of Rare Diseases, 14(1), 284CrossRef
34.
Kimonis, V., Frey, A., Politei, J., & Üçeyler, N. (2020). A patient-reported outcome validation study of concept elicitation and cognitive debriefing to understand neuropathic pain in Fabry disease. Molecular Genetics and Metabolism, 129(2), S89–S90CrossRef
35.
Turner-Bowker, D. M., Lamoureux, R. E., Stokes, J., Litcher-Kelly, L., Galipeau, N., Yaworsky, A., et al. (2018). Informing a priori sample size estimation in qualitative concept elicitation interview studies for clinical outcome assessment instrument development. Value in Health, 21(7), 839–842CrossRef
Metadata
Title
FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument
Authors
Alan L. Shields
Roger E. Lamoureux
Fiona Taylor
Jay A. Barth
Andrew E. Mulberg
Vivian Kessler
Nina Skuban
Publication date
01-10-2021
Publisher
Springer International Publishing
Published in
Quality of Life Research / Issue 10/2021
Print ISSN: 0962-9343
Electronic ISSN: 1573-2649
DOI
https://doi.org/10.1007/s11136-021-02847-9

Other articles of this Issue 10/2021

Quality of Life Research 10/2021 Go to the issue

OriginalPaper

Quality of life and occupational performance of children with cancer in the era of the COVID-19 pandemic in terms of rehabilitation

OriginalPaper

Support for the higher-order factor structure of the WHODAS 2.0 self-report version in a Dutch outpatient psychiatric setting

Correction

Correction to: Health-related quality of life in adults with tetralogy of Fallot repair: a systematic review and meta-analysis

OriginalPaper

Assessing hospitalized patients’ quality of life from external indices: the perspectives of lay people and health professionals

OriginalPaper

Could the EQ-5D-3L predict all-cause mortality in older Chinese? Evidence from a 5-year longitudinal study in eastern China

OriginalPaper

Measuring capability wellbeing in adults at different stages of life for use in economic evaluation of health and care interventions: a qualitative investigation in people requiring kidney care