The Global FKRP Patient Registry

Sponsor

Newcastle University (Other)

Overall Status

Unknown status

CT.gov ID

NCT04001595

Collaborator

(none)

800

Enrollment

Location

Anticipated Duration (Months)

8.2

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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	Phase
LGMD2I LGMDR9 Limb Girdle Muscular Dystrophy Congenital Muscular Dystrophy Muscle-Eye-Brain Disease Walker-Warburg Syndrome FKRP Gene Mutation	Other: Patient Registry

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.

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

800 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

The Global FKRP Patient Registry

Actual Study Start Date :

Nov 1, 2013

Anticipated Primary Completion Date :

Dec 1, 2021

Anticipated Study Completion Date :

Dec 1, 2021

Arms and Interventions

Arm	Intervention/Treatment
Participants with FKRP genetic mutation	Other: Patient Registry Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Arm

Intervention/Treatment

Participants with FKRP genetic mutation

Other: Patient Registry

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Outcome Measures

Primary Outcome Measures

Patient questionnaire [12 months]
Patient reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.
McGill Pain Questionnaire [12 months]
Patient reported current pain.
The Individualized Neuromuscular Quality of Life questionnaire (INQoL) [12 months]
Patient reported quality of life.
Clinician questionnaire [12 months]
Clinician reported cardiac and respiratory measures including ventilation status, and genetic confirmation of FKRP mutation.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results.