Ignite Creation Date:
2024-05-06 @ 2:56 PM
Last Modification Date:
2024-10-26 @ 1:40 PM
Study NCT ID:
NCT04478981
Status:
COMPLETED
Last Update Posted:
2023-11-18
First Post:
2020-07-09
Brief Title:
The Natural History of Patients With Mutations in SEPN1 SELENON or LAMA2
Sponsor:
Radboud University Medical Center
Organization:
Radboud University Medical Center
Study Overview
Official Title:
The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics
Status:
COMPLETED
Status Verified Date:
2022-04
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:
SEPN1 SELENON is a rare congenital myopathy due to mutations in the SELENON gene MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene Currently not much is known about the natural history of these two muscle diseases and no curative treatment options exist The investigators aim to study the natural history of SELENON- and LAMA2-related myopathycongenital muscular dystrophy patients and prepare for future trials by selection of the most appropriate outcome measures To this end a standard medical history neurological examination functional measures questionnaires cardiac examination respiratory function tests radiological examination and accelerometry will be performed over an one and-a-half year period
Detailed Description:
Rationale Patients with mutations in the SELENON gene suffer from slowly progressive congenital muscular dystrophy with early onset rigidity of the spine and potentially life-threatening respiratory insufficiency The protein encoded by SELENON selenoprotein-1 functions as an endogeneous antioxidant and executes a role in cellular redox metabolism The first results of an intervention study using KH176 currently under development for mitochondrial disease in an animal model Sepn1 knock out zebrafish showed improved muscular function Patients with mutations in LAMA2 gene causing merosin-deficient congenital muscular dystrophy MDC1A have a similar phenotype as those with mutations in SELENON gene Key characteristics include congenital hypotonia delayed motor development and contractures For them no treatment is available either Since not much is known about the clinical progression of these two congenital muscle diseases there is an urgent need for natural history-outcome measure studies to reach trial-readiness enabling smooth transition towards clinical trials
Objective The primary objective is to identify and follow ie describe the natural history of patients with congenital myopathymuscular dystrophy due to mutations in SELENON- or LAMA2 genes The secondary objectives are 1 to select appropriate outcome measures based on the natural history data 2 to determine the necessity for routine cardiological and respiratory screening
Study design This is an observational study A standard medical history neurological examination functional measures questionnaires cardiac examination respiratory function tests radiological examination qualitative and quantitative full body MRI muscle ultrasound DEXA scan X-ray of the spine and accelerometry will be performed For each participant the investigators will perform four six-monthly measurements over an one-and-a-half year period If more than 20 patients are willing to participate in this study the investigators will select per muscle disease 10 participants that are representative of the entire patient population based on age gender disease severity etc Patients that are not included in this study and patients that are not able to or do not wish to visit the Radboudumc will be retrospectively analyzed through medical records Additionally they will receive questionnaires which can be completed at home
Study population all patients with congenital myopathymuscular dystrophy due to mutations in the SELENON or LAMA2 genes
Risk and benefit assessment This study does not concern any product medicinal product food product or medical device There is a small risk for minor injury eg when a participant falls However since the investigators use all functional test using movements to which most participants are familiar ie walking transfers etc the participant will be able to estimate hisher own risk The investigators dont include tests in which they push participants to their physical limits The investigators conclude that this study has a negligible risk A benefit includes the possibility for participants to get a detailed analysis on their own health Additionally participants will contribute to the design of future clinical trials on possible treatment options
Objective The primary objective is to identify and follow ie describe the natural history of patients with congenital myopathymuscular dystrophy due to mutations in SELENON- or LAMA2 genes The secondary objectives are 1 to select appropriate outcome measures based on the natural history data 2 to determine the necessity for routine cardiological and respiratory screening
Study design This is an observational study A standard medical history neurological examination functional measures questionnaires cardiac examination respiratory function tests radiological examination qualitative and quantitative full body MRI muscle ultrasound DEXA scan X-ray of the spine and accelerometry will be performed For each participant the investigators will perform four six-monthly measurements over an one-and-a-half year period If more than 20 patients are willing to participate in this study the investigators will select per muscle disease 10 participants that are representative of the entire patient population based on age gender disease severity etc Patients that are not included in this study and patients that are not able to or do not wish to visit the Radboudumc will be retrospectively analyzed through medical records Additionally they will receive questionnaires which can be completed at home
Study population all patients with congenital myopathymuscular dystrophy due to mutations in the SELENON or LAMA2 genes
Risk and benefit assessment This study does not concern any product medicinal product food product or medical device There is a small risk for minor injury eg when a participant falls However since the investigators use all functional test using movements to which most participants are familiar ie walking transfers etc the participant will be able to estimate hisher own risk The investigators dont include tests in which they push participants to their physical limits The investigators conclude that this study has a negligible risk A benefit includes the possibility for participants to get a detailed analysis on their own health Additionally participants will contribute to the design of future clinical trials on possible treatment options
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