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:
Newcastle University
Organization:
Study Overview
Official Title:
Global Fukutin-Related Protein Registry
Status:
RECRUITING
Status Verified Date:
2024-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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.
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.
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.
Detailed Description:
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.
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 Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: