Micro-laminin Gene Therapy for MDC1A

NIH RePORTER · NIH · R21 · $203,280 · view on reporter.nih.gov ↗

Abstract

SUMMARY/ABSTRACT Congenital Muscular Dystrophy 1A (MDC1A) is one of the most severe forms of muscular dystrophy, affecting children at birth and causing dramatic muscle weakness. There are currently no therapies for MDC1A that can ultimately impact disease outcomes. MDC1A arises from recessive loss of function mutations in the LAMA2 gene, which encodes laminin a2, the predominant a chain of laminin in the extracellular matrix (ECM) of skeletal muscle. The LAMA2 gene is too large to be packaged into Adeno Associated Virus (AAV) vectors, making gene replacement for MDC1A impossible with the current gold standard used for clinical gene therapy. We have engineered a micro-laminin gene therapy that can be used with AAV. The current studies will optimize the therapeutic strength of this micro-laminin gene therapy approach by engineering in an additional component to build new muscle strength. These therapies will then be tested in a model for MDC1A. In doing so, this work will develop a single AAV-mediated gene therapy treatment for patients with MDC1A that has the potential to stop and reverse the disease process.

Key facts

NIH application ID
10198254
Project number
1R21AR079071-01
Recipient
RESEARCH INST NATIONWIDE CHILDREN'S HOSP
Principal Investigator
PAUL Taylor MARTIN
Activity code
R21
Funding institute
NIH
Fiscal year
2021
Award amount
$203,280
Award type
1
Project period
2021-04-15 → 2023-03-31