Ignite Creation Date:
2024-05-06 @ 9:04 AM
Last Modification Date:
2024-10-26 @ 12:09 PM
Study NCT ID:
NCT02897921
Status:
UNKNOWN
Last Update Posted:
2018-05-21
First Post:
2016-09-07
Brief Title:
Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy CICS
Sponsor:
Rigshospitalet Denmark
Organization:
Rigshospitalet Denmark
Study Overview
Official Title:
Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy
Status:
UNKNOWN
Status Verified Date:
2018-05
Last Known Status:
ACTIVE_NOT_RECRUITING
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:
CICS
Brief Summary:
Many myopathies are inherited in a recessive manner but in some of these recessively inherited disorders clinical manifestations may potentially manifest in carriers of just a single mutation
The aim of the study is to describe the clinical characteristics of single mutation carriers of recessive myopathy through measuring serum creatine kinase muscle strength muscle degeneration by MRI and heart affection The investigators will do this by blood sampling Biodex 4 Isokinetic Dynamometer MRI analysis ECG Holter monitoring and echocardiography
The aim is further to describe whether these characteristics are found primarily with specific mutations
The aim of the study is to describe the clinical characteristics of single mutation carriers of recessive myopathy through measuring serum creatine kinase muscle strength muscle degeneration by MRI and heart affection The investigators will do this by blood sampling Biodex 4 Isokinetic Dynamometer MRI analysis ECG Holter monitoring and echocardiography
The aim is further to describe whether these characteristics are found primarily with specific mutations
Detailed Description:
Background
Many myopathies are inherited in a recessive manner but in some of these recessively inherited disorders clinical manifestations may potentially manifest in carriers of just a single mutation This has recently been demonstrated by researchers for the recessively inherited limb girdle muscle dystrophy LGMD type 2A where carriers of single mutations can also be symptomatic In X-linked recessively inherited dystrophinopathies caused by mutations in the DMD gene on chromosome Xp21 female mutation carriers may also manifest with disease although this is often milder than affected men In the recently discovered LGMD2L manifesting carriers are also suspected Thus according to statistics too many persons evaluated for myopathy carry a single LGMD2L mutation
Some previous studies have looked into the significance of being a single mutation carrier in recessive muscle disease In dystrophinopathy it was reported that 5 of female DMD carriers reported myalgia and cramps 17 experienced mild-to-moderate muscle weakness and 8 experienced dilated cardiomyopathy with a mean onset age of approximately 30 years Another study found that echocardiographic examination was abnormal in up to 38 of DMD female carriers - some with dilated cardiomyopathy and some with left ventricle dilatation
Overall however significance of carrying a single mutation of recessive myopathy is widely unexplored No study has yet investigated the characteristics of single mutation carriers of recessive myopathy in an observational cross-sectional study
Aim
In this study clinical characteristics of single mutation carriers of recessive myopathies will be investigated The investigation will include sceletal muscle degeneration and strength as well as cardiac status
Recruitment and Methods
Estimated total of subjects recruited is 200 with known recessive gene mutations and 40 healthy controls In former studies 40 healthy volunteers have already been investigated thereby giving a total of 80 healthy controls Recessive gene carrier recruits will be obtained via the Department of Clinical Genetics and Copenhagen Neuromuscular Center Rigshospitalet thus only including carriers aware of their carrier status
2 days of testing per participant Day one Measuring S-creatine kinase level blood sampling muscle strength Biodex 4 Isokinetic Dynamometer ECG and Holter monitor device application
Day two Holter monitor device removal Dixon MRI analysis with gadolinium contrast medium and echocardiography
Healthy controls will take part in MRI-scanning and isokinetic dynamometer testing
Trials are expected to be carried out between October 2016 and May 2020
Many myopathies are inherited in a recessive manner but in some of these recessively inherited disorders clinical manifestations may potentially manifest in carriers of just a single mutation This has recently been demonstrated by researchers for the recessively inherited limb girdle muscle dystrophy LGMD type 2A where carriers of single mutations can also be symptomatic In X-linked recessively inherited dystrophinopathies caused by mutations in the DMD gene on chromosome Xp21 female mutation carriers may also manifest with disease although this is often milder than affected men In the recently discovered LGMD2L manifesting carriers are also suspected Thus according to statistics too many persons evaluated for myopathy carry a single LGMD2L mutation
Some previous studies have looked into the significance of being a single mutation carrier in recessive muscle disease In dystrophinopathy it was reported that 5 of female DMD carriers reported myalgia and cramps 17 experienced mild-to-moderate muscle weakness and 8 experienced dilated cardiomyopathy with a mean onset age of approximately 30 years Another study found that echocardiographic examination was abnormal in up to 38 of DMD female carriers - some with dilated cardiomyopathy and some with left ventricle dilatation
Overall however significance of carrying a single mutation of recessive myopathy is widely unexplored No study has yet investigated the characteristics of single mutation carriers of recessive myopathy in an observational cross-sectional study
Aim
In this study clinical characteristics of single mutation carriers of recessive myopathies will be investigated The investigation will include sceletal muscle degeneration and strength as well as cardiac status
Recruitment and Methods
Estimated total of subjects recruited is 200 with known recessive gene mutations and 40 healthy controls In former studies 40 healthy volunteers have already been investigated thereby giving a total of 80 healthy controls Recessive gene carrier recruits will be obtained via the Department of Clinical Genetics and Copenhagen Neuromuscular Center Rigshospitalet thus only including carriers aware of their carrier status
2 days of testing per participant Day one Measuring S-creatine kinase level blood sampling muscle strength Biodex 4 Isokinetic Dynamometer ECG and Holter monitor device application
Day two Holter monitor device removal Dixon MRI analysis with gadolinium contrast medium and echocardiography
Healthy controls will take part in MRI-scanning and isokinetic dynamometer testing
Trials are expected to be carried out between October 2016 and May 2020
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None