MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study

Quality of Life Clinical Trial

— MALTA-FABRY  

Official title:

A Structured Survey Among Fabry Patients With a Focus on Adherence to Therapy, Quality of Life and Pain Control

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03683966
• Other study ID #: AT-IIP-2018
• Status: Recruiting
• Start date: October 27, 2017
• Est. completion date: December 31, 2023

Study information

• Verified date: July 2022
• Source: Wuerzburg University Hospital
• Contact: Peter Nordbeck, MD, PhD
• Phone: 004993120139181
• Email: nordbeck_p[@]ukw.de
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: December 31, 2023
• Est. primary completion date: December 31, 2023
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• No informed consent
• Withdrawal of informed consent

Related Conditions & MeSH terms

• Adherence, Medication
• Fabry Disease
• Quality of Life
• Rare Diseases

Locations

Country	Name	City	State
Germany	Wuerzburg University Hospital	Würzburg	Bayern

Sponsors (4)

Lead Sponsor	Collaborator
Wuerzburg University Hospital	Charite University, Berlin, Germany, Health Care Center Dr. Markus Cybulla, Muellheim, University Hospital Muenster

Country where clinical trial is conducted

Germany, 

References & Publications (7)

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. — View 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. — View 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. Erratum in: J Med Genet. 2018 Apr 16;:. — View Citation

Lenders M, Nordbeck P, Kurschat C, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler 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-Kühl 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. — View Citation

Müntze 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. — View Citation

Müntze 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. — View Citation

Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P. a-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001691. doi: 10.1161/CIRCGENETICS.116.001691. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Pain according to SF-36 and Wuerzburg pain questionnaire	Change of pain under migalastat therapy according to SF-36 and Wuerzburg pain questionnaire.; The Wuerzburg pain questionnaire was created by Üçeyler et al. In this questionnaire, the patient's pain phenotype is characterized with questions about the presence of 1) permanent pain, 2) pain attacks, 3) pain crisis, and 4) evoked pain (by touching a cold or warm object or by pressure) in childhood and/or adulthood with the response options Yes, No, or Don't know. Other criteria can be found in the publication (Üçeyler N, Ganendiran S, Kramer D, Sommer C. Characterization of pain in fabry disease. Clin J Pain. 2014 Oct;30(10):915-20.).	From date of inclusion up to104 weeks (2 years)
Primary	Adherence to oral therapy with migalastat according to Medication Assessment Questionnaire	Pharmacological adherence according to adapted and translated 'Medication Assessment Questionnaire'.	From date of inclusion up to104 weeks (2 years)
Secondary	Quality of Life according to SF-36 and Wuerzburg pain questionnaire	Change of quality of life under migalastat therapy according to SF-36 and Wuerzburg pain questionnaire. Short Form (36), abbreviated SF-36, is a disease-specific measurement tool for increasing the health-related quality of life. The SF-36 is composed of eight scale-valued domains that correspond to the weighted sums of answers in each section. The range of values of each scale is 0-100 under the assumption that each question has the same weight. A score of 0 is the worst outcome (maximum disability) and a score of 100 is the best outcome (no disability).; The eight domains of the SF-36 are vitality, physical functioning, bodily pain, general health perceptions, physical role functioning, emotional role functioning, social role functioning and mental health.	From date of inclusion up to104 weeks (2 years)