The Global FKRP Patient Registry
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT04001595|
Recruitment Status : Recruiting
First Posted : June 28, 2019
Last Update Posted : October 6, 2020
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type 2I (LGMD2I) also known as LGMDR9, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMD2I is the most common FKRP-related condition, and is especially prevalent in Northern Europe.
The 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.
|Condition or disease||Intervention/treatment|
|LGMD2I LGMDR9 Limb Girdle Muscular Dystrophy Congenital Muscular Dystrophy Muscle-Eye-Brain Disease Walker-Warburg Syndrome FKRP Gene Mutation||Other: Patient Registry|
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.
The 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.
The FKRP registry is funded by LGMD2i Research Fund and CureLGMD2I.
The primary objectives of the Global FKRP Registry are to:
- Accelerate and facilitate clinical trials by locating potential research subjects quickly and efficiently
- Facilitate in the planning of clinical trials
- Assist the neuromuscular community with the development of recommendations and standards of care
- Characterise and describe the FKRP population as a whole, enhancing the understanding of the prevalence throughout the world.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||800 participants|
|Target Follow-Up Duration:||6 Years|
|Official Title:||The Global FKRP Patient Registry|
|Actual Study Start Date :||November 2013|
|Estimated Primary Completion Date :||December 2021|
|Estimated Study Completion Date :||December 2021|
|Participants with FKRP genetic mutation||
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
- Patient questionnaire [ Time Frame: 12 months ]Patient reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.
- McGill Pain Questionnaire [ Time Frame: 12 months ]Patient reported current pain.
- The Individualized Neuromuscular Quality of Life questionnaire (INQoL) [ Time Frame: 12 months ]Patient reported quality of life.
- Clinician questionnaire [ Time Frame: 12 months ]Clinician reported cardiac and respiratory measures including ventilation status, and genetic confirmation of FKRP mutation.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04001595
|Contact: Registry Project Manager and Curator||0191 firstname.lastname@example.org|
|The John Walton Muscular Dystrophy Research Centre||Recruiting|
|Newcastle upon-Tyne, United Kingdom, NE1 3BZ|
|Contact: Registry Project Manager and Curator 0191 2418640 email@example.com|
|Principal Investigator: Volker Straub, MD, PhD|
|Principal Investigator:||Volker Straub, MD, PhD||The John Walton Muscular Dystrophy Research Centre|