Clinical trial NCT03683966: MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Official title: A Structured Survey Among Fabry Patients With a Focus on Adherence to Therapy, Quality of Life and Pain Control
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Rare Diseases
Fabry Disease
Adherence, Medication
Quality of Life
Keywords: Fabry
Chaperone therapy
Migalastat
Pharmacological adherence
Lead sponsor: Wuerzburg University Hospital
Sponsor class: OTHER
Collaborators: name: Charite University, Berlin, Germany
name: University Hospital Muenster
name: Health Care Center Dr. Markus Cybulla, Muellheim
First posted: 2018-09-25
Enrollment: 30
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population includes every patient with Fabry disease and therapy who is seen in the FAZiT Wuerzburg. Limitation is a therapy with migalastat.

Brief summary: This study evaluates adherence to the oral chaperone therapy migalastat in patients with Fabry disease.

Detailed description: Fabry disease is a rare disease and part of the group of lysosomal storage disorders. Since 2016, chaperone therapy as a new therapeutic approach is available.

This study is a prospective cohort study and observes patients under therapy with migalastat. This study is suggested to help estimating the adherence of the oral therapy.

All patients in treatment with migalastat in the Fabry Center Wuerzburg (FAZiT) and selected patients of other cooperating Fabry Centers are included in this study if informed consent is provided.

Eligibility criteria: Inclusion Criteria:

* Fabry disease (genetically confirmed)
* Signed informed consent
* 18 years and older

Exclusion Criteria:

* No informed consent
* Withdrawal of informed consent

Primary outcomes:
measure: Adherence to oral therapy with migalastat according to Medication Assessment Questionnaire
timeFrame: From date of inclusion up to104 weeks (2 years)
Secondary outcomes:
measure: Quality of Life according to SF-36 and Wuerzburg pain questionnaire
timeFrame: From date of inclusion up to104 weeks (2 years)
Other outcomes:
measure: Pain according to SF-36 and Wuerzburg pain questionnaire
timeFrame: From date of inclusion up to104 weeks (2 years)
Locations:
city: Würzburg
country: Germany
facility: Wuerzburg University Hospital
state: Bayern
Study officials:
affiliation: Wuerzburg University Hospital
name: Peter Nordbeck, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Muntze J, Salinger T, Gensler D, Wanner C, Nordbeck P. Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. Eur Heart J. 2018 May 21;39(20):1861-1862. doi: 10.1093/eurheartj/ehy072. No abstract available.
citation: Oder D, Liu D, Hu K, Uceyler N, Salinger T, Muntze J, Lorenz K, Kandolf R, Grone HJ, Sommer C, Ertl G, Wanner C, Nordbeck P. alpha-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. Circ Cardiovasc Genet. 2017 Oct;10(5):e001691. doi: 10.1161/CIRCGENETICS.116.001691.
citation: Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.
citation: Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10.
citation: Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.
citation: Lenders M, Nordbeck P, Kurschat C, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Muntze J, Uceyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, Stumpfe K, Blaschke D, Brand SM, Mann WA, Kampmann C, Muschol N, Canaan-Kuhl S, Brand E. Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS). Clin Pharmacol Ther. 2020 Aug;108(2):326-337. doi: 10.1002/cpt.1832. Epub 2020 Apr 27.
citation: Muntze J, Gensler D, Maniuc O, Liu D, Cairns T, Oder D, Hu K, Lorenz K, Frantz S, Wanner C, Nordbeck P. Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year. Clin Pharmacol Ther. 2019 May;105(5):1224-1233. doi: 10.1002/cpt.1321. Epub 2019 Jan 13.