Ignite Creation Date:
2025-12-24 @ 1:38 PM
Ignite Modification Date:
2025-12-27 @ 9:16 PM
Study NCT ID:
NCT04001595
Status:
RECRUITING
Last Update Posted:
2024-01-30
First Post:
2019-06-25
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Global FKRP Registry
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C564612', 'term': 'Muscular Dystrophy, Limb-Girdle, Type 2I'}, {'id': 'D049288', 'term': 'Muscular Dystrophies, Limb-Girdle'}, {'id': 'D058494', 'term': 'Walker-Warburg Syndrome'}], 'ancestors': [{'id': 'D009136', 'term': 'Muscular Dystrophies'}, {'id': 'D020966', 'term': 'Muscular Disorders, Atrophic'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D054222', 'term': 'Cobblestone Lissencephaly'}, {'id': 'D054082', 'term': 'Lissencephaly'}, {'id': 'D054081', 'term': 'Malformations of Cortical Development, Group II'}, {'id': 'D054220', 'term': 'Malformations of Cortical Development'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}, 'targetDuration': '10 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2013-11', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-01', 'completionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-01-26', 'studyFirstSubmitDate': '2019-06-25', 'studyFirstSubmitQcDate': '2019-06-27', 'lastUpdatePostDateStruct': {'date': '2024-01-30', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-06-28', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Patient questionnaire', 'timeFrame': '12 months', 'description': 'Patient-reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.'}, {'measure': 'McGill Pain Questionnaire', 'timeFrame': '12 months', 'description': 'Patient-reported current pain.'}, {'measure': 'Individualized Neuromuscular Quality of Life questionnaire (INQoL)', 'timeFrame': '12 months', 'description': 'Patient-reported quality of life.'}, {'measure': 'Clinician questionnaire', 'timeFrame': '12 months', 'description': 'Doctor-reported clinical data, including respiratory and cardiac test results and genetic confirmation of FKRP mutation.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['LGMD2I', 'LGMDR9', 'Limb Girdle Muscular Dystrophy', 'Congenital Muscular Dystrophy', 'Muscle-Eye-Brain Disease', 'Walker-Warburg Syndrome', 'FKRP gene mutation'], 'conditions': ['LGMD2I', 'LGMDR9', 'Limb Girdle Muscular Dystrophy', 'Congenital Muscular Dystrophy', 'Muscle-Eye-Brain Disease', 'Walker-Warburg Syndrome', 'FKRP Gene Mutation']}, 'referencesModule': {'references': [{'pmid': '32342672', 'type': 'BACKGROUND', 'citation': 'Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmuller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28.'}, {'pmid': '34884219', 'type': 'BACKGROUND', 'citation': 'Richardson M, Mayhew A, Muni-Lofra R, Murphy LB, Straub V. Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases. J Clin Med. 2021 Nov 25;10(23):5517. doi: 10.3390/jcm10235517.'}], 'seeAlsoLinks': [{'url': 'https://www.fkrp-registry.org/', 'label': 'Global FKRP Registry website'}]}, 'descriptionModule': {'briefSummary': 'Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMDR9 is the most common FKRP-related condition, and is especially prevalent in Northern Europe.\n\nThe aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease globally. By maintaining a global registry this will help identify potential participants eligible for clinical trials in the future.', 'detailedDescription': "The Global FKRP Registry (https://www.fkrp-registry.org/) is an international registry for patients with an FKRP-related condition; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.\n\nThe data will be collected via an online form and will be stored on a secure server based in the United Kingdom and looked after by the registry staff at Newcastle University. Data collected from patients will include demographic information, diagnosis, current condition, age of onset, medication, contractures, family history and results of genetic testing, if available. Other optional questionnaires will focus on patients' pain and quality of life. Further information collected from patients' doctors will include, heart and lung function, muscle strength, muscle and brain MRI findings and genetics.\n\nThe FKRP registry is funded by LGMD2i Research Fund and CureLGMD2i.\n\nThe primary objectives of the Global FKRP Registry are to:\n\n* Accelerate and facilitate clinical trials by locating potential research subjects quickly and efficiently\n* Facilitate in the planning of clinical trials\n* Assist the neuromuscular community with the development of recommendations and standards of care\n* Characterise and describe the FKRP population as a whole, enhancing the understanding of the prevalence throughout the world."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Participants who have undergone genetic testing for an FKRP-related condition or have a confirmed diagnosis of an FKRP-related condition can self-register to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results.\n\nExclusion Criteria:\n\n* There is no exclusion criteria for registration with this patient registry.'}, 'identificationModule': {'nctId': 'NCT04001595', 'briefTitle': 'Global FKRP Registry', 'organization': {'class': 'OTHER', 'fullName': 'Newcastle University'}, 'officialTitle': 'Global Fukutin-Related Protein Registry', 'orgStudyIdInfo': {'id': '23NE0222'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Participants with FKRP gene mutation', 'interventionNames': ['Other: Patient Registry']}], 'interventions': [{'name': 'Patient Registry', 'type': 'OTHER', 'description': 'Participants who have volunteered to participate will complete various questionnaires relating to their condition.', 'armGroupLabels': ['Participants with FKRP gene mutation']}]}, 'contactsLocationsModule': {'locations': [{'zip': 'NE1 3BZ', 'city': 'Newcastle upon Tyne', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Patient Registry manager and curator', 'role': 'CONTACT', 'email': 'fkrpregistry@newcastle.ac.uk', 'phone': '0191 2418640'}, {'name': 'Patient Registry Team', 'role': 'CONTACT', 'email': 'registries@newcastle.ac.uk'}, {'name': 'Volker Straub, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'John Walton Muscular Dystrophy Research Centre, Newcastle University', 'geoPoint': {'lat': 54.97328, 'lon': -1.61396}}], 'centralContacts': [{'name': 'Patient Registry Manager and Curator', 'role': 'CONTACT', 'email': 'fkrpregistry@newcastle.ac.uk', 'phone': '0191 2418640'}, {'name': 'Patient Registry Team', 'role': 'CONTACT', 'email': 'registries@newcastle.ac.uk'}], 'overallOfficials': [{'name': 'Volker Straub, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'John Walton Muscular Dystrophy Research Centre'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Newcastle University', 'class': 'OTHER'}, 'collaborators': [{'name': 'LGMD2i Research Fund', 'class': 'UNKNOWN'}, {'name': 'CureLGMD2i', 'class': 'UNKNOWN'}, {'name': 'Ludwig-Maximilians - University of Munich', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}