Ignite Creation Date:
2024-10-25 @ 7:59 PM
Last Modification Date:
2024-10-26 @ 3:39 PM
Study NCT ID:
NCT06582537
Status:
COMPLETED
Last Update Posted:
None
First Post:
2022-01-11
Brief Title:
LAMA2 Genetic Correction
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Ex Vivo Genetic Correction of LAMA2 Mutations in Myogenic Stem Cells of Patients with Merosin-deficient Congenital Muscle Dystrophy Type 1a MDC1a
Status:
COMPLETED
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Merosin-deficient congenital muscle dystrophy type 1a MDC1a or LAMA2 muscular dystrophy LAMA2-MD is a severe autosomal recessive form of muscular dystrophy that is caused by homozygous or compound heterozygous mutations in the laminin alpha 2 LAMA-2 gene Many different LAMA-2 mutations have been reported In most cases MDC1a is diagnosed within the first year of life and is characterized by hypotonia delayed motor development and white matter abnormalities Currently no efficient treatment is available for this patient group Generally MDC1a patients with mutations causing a premature stop codon are most severely affected early onset LAMA2-MD and patients with missense mutations are generally affected more mild affected and more late-onset late onset LAMA2-MD However large variation in disease severity and clinical course is observed even between individuals with the same mutation eg the LAMA2 c55625GC mutation which is frequently observed in Dutch MDC1a patients This study aims to isolate and culture fibroblasts and myogenic stem cells called mesoangioblasts from the skin and muscle biopsies of adult LAMA2 mutation carriers to explore if genetic correction of LAMA2 mutations using CRISPR-Cas9 can be achieved and subsequently assess the effect in vitro as a first step towards therapy development
Detailed Description:
None
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