Ignite Creation Date:
2024-05-06 @ 5:51 PM
Last Modification Date:
2024-10-26 @ 2:36 PM
Study NCT ID:
NCT05453461
Status:
RECRUITING
Last Update Posted:
2024-02-09
First Post:
2022-07-01
Brief Title:
ADVANCED FSHD-COM New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients a Pilot Study
Sponsor:
Centre Hospitalier Universitaire de Nice
Organization:
Centre Hospitalier Universitaire de Nice
Study Overview
Official Title:
ADVANCED FSHD-COM New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients a Pilot Study
Status:
RECRUITING
Status Verified Date:
2024-02
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:
ADVANCED
Brief Summary:
Facioscapulohumeral muscular dystrophy FSHD is one of the most common adult muscular dystrophy with an estimated prevalence range of 2-7 per 100000 The disease is characterized by slowly progressive asymmetric muscle weakness that starts with the face and scapular muscles It causes significant lifetime morbidity with up to 20 of patients eventually requiring full-time wheelchair use However there is a large degree of clinical variability in both disease progression and severity This makes predicting an individuals disease course difficult and has made clinical trial design challenging
The disease is caused by the aberrant expression of a normally silenced gene DUX4 which causes disease by a toxic gain-of-function The establishment of a unifying model for the cause of FSHD made it possible to develop disease-specific targeted treatments Pharmaceutical companies are actively investigating therapeutic approaches in order to knockdown or silence DUX4 including the use of antisense RNA oligonucleotides which is already investigated for spinal muscular atrophy Duchenne muscular dystrophy and myotonic dystrophy The drug development pipeline for FSHD over the next 5 years looks promising but meetings with industry advocacy groups and FSHD scientific experts have identified several gaps that need to be addressed to accelerate efficient drug development As drugs move from preclinical testing into human trials it is essential to validate clinical trial tools and methodologies to facilitate drug development There is a strong need for clinical outcome measures COMs including biomarkers strength outcomes functional measures and patient reported outcomes to follow disease progression and to evaluate treatment efficacy
A large international multicenter study is currently ongoing in order to validate COMs in ambulant FSHD patients ReSolve NCT03458832 Additionally Nice University Hospital is conducting an ancillary study CTRL FSHD France NCT04038138 to evaluate muscle MRI an additional emerging biomarker to follow disease progression in the same patient population To limit patient heterogeneity only ambulant FSHD patients are included in these 2 ongoing studies It is therefore important to generate data in severely affected non-ambulant FSHD patients in order to validate COMs that are adapted to this specific subgroup of patients for future therapeutic trials
The disease is caused by the aberrant expression of a normally silenced gene DUX4 which causes disease by a toxic gain-of-function The establishment of a unifying model for the cause of FSHD made it possible to develop disease-specific targeted treatments Pharmaceutical companies are actively investigating therapeutic approaches in order to knockdown or silence DUX4 including the use of antisense RNA oligonucleotides which is already investigated for spinal muscular atrophy Duchenne muscular dystrophy and myotonic dystrophy The drug development pipeline for FSHD over the next 5 years looks promising but meetings with industry advocacy groups and FSHD scientific experts have identified several gaps that need to be addressed to accelerate efficient drug development As drugs move from preclinical testing into human trials it is essential to validate clinical trial tools and methodologies to facilitate drug development There is a strong need for clinical outcome measures COMs including biomarkers strength outcomes functional measures and patient reported outcomes to follow disease progression and to evaluate treatment efficacy
A large international multicenter study is currently ongoing in order to validate COMs in ambulant FSHD patients ReSolve NCT03458832 Additionally Nice University Hospital is conducting an ancillary study CTRL FSHD France NCT04038138 to evaluate muscle MRI an additional emerging biomarker to follow disease progression in the same patient population To limit patient heterogeneity only ambulant FSHD patients are included in these 2 ongoing studies It is therefore important to generate data in severely affected non-ambulant FSHD patients in order to validate COMs that are adapted to this specific subgroup of patients for future therapeutic trials
Detailed Description:
None
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