Adherence, Medication, Fabry Disease, Quality of Life, Rare Diseases
Conditions
Keywords
Fabry, Chaperone therapy, Migalastat, Pharmacological adherence
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.
Interventions
None listed
Sponsors
Charite University, Berlin, Germany
University Hospital Muenster
Health Care Center Dr. Markus Cybulla, Muellheim
Wuerzburg University Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Inclusion criteria
* Fabry disease (genetically confirmed) * Signed informed consent * 18 years and older
Exclusion criteria
* No informed consent * Withdrawal of informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Adherence to oral therapy with migalastat according to Medication Assessment Questionnaire | From date of inclusion up to104 weeks (2 years) | Pharmacological adherence according to adapted and translated 'Medication Assessment Questionnaire'. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Quality of Life according to SF-36 and Wuerzburg pain questionnaire | From date of inclusion up to104 weeks (2 years) | 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. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Pain according to SF-36 and Wuerzburg pain questionnaire | From date of inclusion up to104 weeks (2 years) | 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.). |
Countries
Germany
Contacts
Primary ContactPeter Nordbeck, MD, PhD
Backup ContactJonas Muentze, MD
Outcome results
None listed