Ignite Creation Date:
2024-05-06 @ 11:34 AM
Last Modification Date:
2024-10-26 @ 12:47 PM
Study NCT ID:
NCT03550300
Status:
UNKNOWN
Last Update Posted:
2018-10-04
First Post:
2018-05-14
Brief Title:
Muscle MRI in Charcot Mary Tooth Disease a Prospective Cohort Study
Sponsor:
University College London
Organization:
University College London
Study Overview
Official Title:
Muscle MRI in Charcot Mary Tooth Disease a Prospective Cohort Study
Status:
UNKNOWN
Status Verified Date:
2018-05
Last Known Status:
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:
None
Brief Summary:
This cohort study participants with CMT and control participants has two parts Part 1 CMT1A cohort Part2 CMT1B CMT2A and CMTX1 cohort and is proposed to take place over 3 years across three sites Participants with CMT aged 5-60 for potential enrolment in the trial will be identified through the existing inherited neuropathy clinics at each site and control participants will be identified among the unaffected relatives and carers of the participants with CMT If they show interest in participating they will be given the relevant Patient Information Sheets Written Consent forms andor Assent forms Half of the participants will be recruited at the UK sites NHNN and GOSH and the other half at the US collaborating site Each participant will be invited to two separate research visits 12 months apart for which travel expenses return journey will be reimbursed Each research visit is expected to last approximately 3 hours and during it relevant detailed clinical data will be collected CMTPedS for participants with CMT aged 5-20 CMTESv2-R for participants with CMT over the age of 10 CMT-HI for participants with CMT over the age of 16 and the participant will also undergo an MRI scan up to 45 minutes of the lower limbs feet and calves or calves and thighs Two separate neuromuscular MRI protocols with specific sequences will be used for the scans of foot and calf muscles and scans of calf and thigh muscles Blood samples for plasma NEFL levels will be optional at both research visits for the participants at the UK trial sites plasma NEFL levels will be processed according to our previously published protocol
Detailed Description:
In this proposed study we will use magnetic resonance imaging MRI of skeletal muscle to better delineate the natural history of intramuscular fat accumulation in Charcot Marie Tooth disease CMT and investigate the use of muscle MRI and plasma neurofilament light chain NEFL levels as outcome measures in children and adults with specific subtypes of CMT CMT1A CMT1B CMT2A and CMTX1
We will ascertain the value of MRI-determined fat accumulation in foot calf and thigh muscles as an independent outcome measure by analysing its correlation with validated clinical measures CMT Paediatric Score CMTPedS andor CMT Examination Score version 2 - Rasch CMTESv2-R and sensitivity to change over time compared to matched controls We will also ascertain the utility of plasma NEFL levels as an independent outcome measure and a potential predictive biomarker of muscle fat accumulation over 12 months
Following this trial easily implemented outcome measures will be immediately available for clinical trials seeking to evaluate novel therapies in CMT and data from this trial will also be available to establish sample size for future clinical trials
This study participants with CMT and control participants has two parts Part 1 CMT1A cohort Part2 CMT1B CMT2A and CMTX1 cohort and is proposed to take place over 3 years across three sites Participants with CMT aged 5-60 for potential enrolment in the trial will be identified through the existing inherited neuropathy clinics at each site and control participants will be identified among the unaffected relatives and carers of the participants with CMT
Approximately half of the participants will be recruited at the UK sites NHNN and GOSH and the other half at the US collaborating centre University of IOWA Each research visit is expected to last approximately 3 hours and during it relevant detailed clinical data will be collected CMTPedS for participants with CMT aged 5-20 CMTESv2-R for participants with CMT over the age of 10 CMT-HI for participants with CMT over the age of 16 and the participant will also undergo an MRI scan up to 45 minutes of the lower limbs feet and calves or calves and thighs Two separate neuromuscular MRI protocols with specific sequences will be used for the scans of foot and calf muscles and scans of calf and thigh muscles Blood samples for plasma NEFL levels will be optional at both research visits for the participants at the UK trial sites plasma NEFL levels will be processed according to our previously published protocol
The primary objective is to define the responsiveness of MRI-determined fat accumulation in foot and calf muscles in childrenyoung adults aged 5-20 with CMT1A or calf and thigh muscles in adults aged 16-60 with CMT1B CMT2A and CMTX1 over 12 months
The secondary objectives are a to assess the validity of MRI-determined muscle fat accumulation as a biomarker by correlating it with validated clinical scores CMTPedS andor CMTESv2-R b investigate the responsiveness of plasma NEFL in patients with CMT compared to matched controls over 12 months and c to investigate the utility of multi-level T2-weighted STIR short T1 inversion recovery and plasma NEFL levels as potential predictive biomarkers of muscle fat accumulation over the subsequent 12 months
We will ascertain the value of MRI-determined fat accumulation in foot calf and thigh muscles as an independent outcome measure by analysing its correlation with validated clinical measures CMT Paediatric Score CMTPedS andor CMT Examination Score version 2 - Rasch CMTESv2-R and sensitivity to change over time compared to matched controls We will also ascertain the utility of plasma NEFL levels as an independent outcome measure and a potential predictive biomarker of muscle fat accumulation over 12 months
Following this trial easily implemented outcome measures will be immediately available for clinical trials seeking to evaluate novel therapies in CMT and data from this trial will also be available to establish sample size for future clinical trials
This study participants with CMT and control participants has two parts Part 1 CMT1A cohort Part2 CMT1B CMT2A and CMTX1 cohort and is proposed to take place over 3 years across three sites Participants with CMT aged 5-60 for potential enrolment in the trial will be identified through the existing inherited neuropathy clinics at each site and control participants will be identified among the unaffected relatives and carers of the participants with CMT
Approximately half of the participants will be recruited at the UK sites NHNN and GOSH and the other half at the US collaborating centre University of IOWA Each research visit is expected to last approximately 3 hours and during it relevant detailed clinical data will be collected CMTPedS for participants with CMT aged 5-20 CMTESv2-R for participants with CMT over the age of 10 CMT-HI for participants with CMT over the age of 16 and the participant will also undergo an MRI scan up to 45 minutes of the lower limbs feet and calves or calves and thighs Two separate neuromuscular MRI protocols with specific sequences will be used for the scans of foot and calf muscles and scans of calf and thigh muscles Blood samples for plasma NEFL levels will be optional at both research visits for the participants at the UK trial sites plasma NEFL levels will be processed according to our previously published protocol
The primary objective is to define the responsiveness of MRI-determined fat accumulation in foot and calf muscles in childrenyoung adults aged 5-20 with CMT1A or calf and thigh muscles in adults aged 16-60 with CMT1B CMT2A and CMTX1 over 12 months
The secondary objectives are a to assess the validity of MRI-determined muscle fat accumulation as a biomarker by correlating it with validated clinical scores CMTPedS andor CMTESv2-R b investigate the responsiveness of plasma NEFL in patients with CMT compared to matched controls over 12 months and c to investigate the utility of multi-level T2-weighted STIR short T1 inversion recovery and plasma NEFL levels as potential predictive biomarkers of muscle fat accumulation over the subsequent 12 months
Study Oversight
Has Oversight DMC:
None
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?:
None