Ignite Creation Date:
2025-12-24 @ 4:25 PM
Ignite Modification Date:
2026-01-24 @ 3:54 AM
Study NCT ID:
NCT03683966
Status:
UNKNOWN
Last Update Posted:
2022-07-11
First Post:
2018-09-03
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D035583', 'term': 'Rare Diseases'}, {'id': 'D000795', 'term': 'Fabry Disease'}, {'id': 'D055118', 'term': 'Medication Adherence'}], 'ancestors': [{'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D010349', 'term': 'Patient Compliance'}, {'id': 'D010342', 'term': 'Patient Acceptance of Health Care'}, {'id': 'D000074822', 'term': 'Treatment Adherence and Compliance'}, {'id': 'D015438', 'term': 'Health Behavior'}, {'id': 'D001519', 'term': 'Behavior'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 30}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-10-27', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-07', 'completionDateStruct': {'date': '2023-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2022-07-06', 'studyFirstSubmitDate': '2018-09-03', 'studyFirstSubmitQcDate': '2018-09-24', 'lastUpdatePostDateStruct': {'date': '2022-07-11', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-09-25', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Pain according to SF-36 and Wuerzburg pain questionnaire', 'timeFrame': 'From date of inclusion up to104 weeks (2 years)', 'description': "Change of pain under migalastat therapy according to SF-36 and Wuerzburg pain questionnaire.\n\nThe 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.)."}], 'primaryOutcomes': [{'measure': 'Adherence to oral therapy with migalastat according to Medication Assessment Questionnaire', 'timeFrame': 'From date of inclusion up to104 weeks (2 years)', 'description': "Pharmacological adherence according to adapted and translated 'Medication Assessment Questionnaire'."}], 'secondaryOutcomes': [{'measure': 'Quality of Life according to SF-36 and Wuerzburg pain questionnaire', 'timeFrame': 'From date of inclusion up to104 weeks (2 years)', 'description': '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).\n\nThe 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.'}]}, 'conditionsModule': {'keywords': ['Fabry', 'Chaperone therapy', 'Migalastat', 'Pharmacological adherence'], 'conditions': ['Rare Diseases', 'Fabry Disease', 'Adherence, Medication', 'Quality of Life']}, 'referencesModule': {'references': [{'pmid': '29452394', 'type': 'BACKGROUND', '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.'}, {'pmid': '29018006', 'type': 'BACKGROUND', '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.'}, {'pmid': '27509102', 'type': 'BACKGROUND', '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."}, {'pmid': '27834756', 'type': 'BACKGROUND', '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.'}, {'pmid': '27657681', 'type': 'BACKGROUND', '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.'}, {'pmid': '32198894', 'type': 'BACKGROUND', '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."}, {'pmid': '30506669', 'type': 'BACKGROUND', '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.'}]}, 'descriptionModule': {'briefSummary': 'This study evaluates adherence to the oral chaperone therapy migalastat in patients with Fabry disease.', 'detailedDescription': '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.\n\nThis 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.\n\nAll 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The study population includes every patient with Fabry disease and therapy who is seen in the FAZiT Wuerzburg. Limitation is a therapy with migalastat.', 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Fabry disease (genetically confirmed)\n* Signed informed consent\n* 18 years and older\n\nExclusion Criteria:\n\n* No informed consent\n* Withdrawal of informed consent'}, 'identificationModule': {'nctId': 'NCT03683966', 'acronym': 'MALTA-FABRY', 'briefTitle': 'MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study', 'organization': {'class': 'OTHER', 'fullName': 'Wuerzburg University Hospital'}, 'officialTitle': 'A Structured Survey Among Fabry Patients With a Focus on Adherence to Therapy, Quality of Life and Pain Control', 'orgStudyIdInfo': {'id': 'AT-IIP-2018'}}, 'contactsLocationsModule': {'locations': [{'zip': '97080', 'city': 'Würzburg', 'state': 'Bavaria', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Irina Schumacher', 'role': 'CONTACT', 'email': 'schumacher_i@ukw.de', 'phone': '004993120139714'}], 'facility': 'Wuerzburg University Hospital', 'geoPoint': {'lat': 49.79391, 'lon': 9.95121}}], 'centralContacts': [{'name': 'Peter Nordbeck, MD, PhD', 'role': 'CONTACT', 'email': 'nordbeck_p@ukw.de', 'phone': '004993120139181'}, {'name': 'Jonas Muentze, MD', 'role': 'CONTACT', 'email': 'muentze_j@ukw.de', 'phone': '004993120139958'}], 'overallOfficials': [{'name': 'Peter Nordbeck, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Wuerzburg University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Wuerzburg University Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'Charite University, Berlin, Germany', 'class': 'OTHER'}, {'name': 'University Hospital Muenster', 'class': 'OTHER'}, {'name': 'Health Care Center Dr. Markus Cybulla, Muellheim', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Head Consultant Cardiology and Chief of Electrophysiology', 'investigatorFullName': 'PD Dr. Peter Nordbeck', 'investigatorAffiliation': 'Wuerzburg University Hospital'}}}}