Ignite Creation Date:
2024-05-06 @ 8:25 PM
Last Modification Date:
2024-10-26 @ 3:27 PM
Study NCT ID:
NCT06374719
Status:
RECRUITING
Last Update Posted:
2024-04-19
First Post:
2024-04-12
Brief Title:
WiTNNess - TNNT1 Myopathy Natural History Study
Sponsor:
Clinic for Special Children
Organization:
Clinic for Special Children
Study Overview
Official Title:
WiTNNess An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
Status:
RECRUITING
Status Verified Date:
2024-04
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:
WiTNNess
Brief Summary:
WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene The primary aim of the study is to specify meaningful outcome measures for future clinical trials WiTNNess is open to children and adults worldwide Participants can choose to include their information once cross-sectional cohort or every few months prospective cohort
Detailed Description:
WiTNNess is an observational study that includes prospective and cross-sectional arms both of which include people diagnosed with autosomal recessive TNNT1-associated muscle disease commonly described as a form of infantile-onset NEM5A or childhood-onset NEM5B nemaline rod myopathy The studys primary objective is to establish the nature and time course of disease outcomes under current treatment so that these can later be compared to outcomes achieved with novel disease-modifying therapies ie interventional trials
Participants from all over the world are welcome to enroll in either arm of the WiTNNess study Following appropriate consent those in the prospective arm are followed long-term Recurring assessments are performed at the participants home the Clinic for Special Children or a partnering clinical site depending on the individuals particular circumstances Basic assessments include vital signs a physical exam documentation of motor milestones growth measurements and blood chemistry values Participants may also undergo non-invasive ultrasound of the heart echocardiogram and one or more chest radiographs
Participants in the cross-sectional arm are contacted once after consent Members of the WiTNNess study team partner with healthcare providers and family members to capture pertinent medical history physical exam findings growth metrics and motor milestones at the time of contact
Participants from all over the world are welcome to enroll in either arm of the WiTNNess study Following appropriate consent those in the prospective arm are followed long-term Recurring assessments are performed at the participants home the Clinic for Special Children or a partnering clinical site depending on the individuals particular circumstances Basic assessments include vital signs a physical exam documentation of motor milestones growth measurements and blood chemistry values Participants may also undergo non-invasive ultrasound of the heart echocardiogram and one or more chest radiographs
Participants in the cross-sectional arm are contacted once after consent Members of the WiTNNess study team partner with healthcare providers and family members to capture pertinent medical history physical exam findings growth metrics and motor milestones at the time of contact
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