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3-D structure of the MECR protein

Image taken from Alphafold Protein Structure Database:

Gene Therapy

We are supporting a project at the University of Florida to explore the feasibility of creating a gene therapy for MEPAN.


This is a complex and expensive process, but it may hold the most promise since it aims to correct the underlying MECR gene dysfunction associated with MEPAN by delivering working copies of MECR to tissues of the body such as the brain and retina, which are most affected in patients.


There are already FDA-approved AAV gene therapies for rare diseases such as Spinal Muscular Atrophy (SMA) and Leber's Hereditary Optic Neuropathy (LHON), and hundreds of other AAV therapies in clinical trials. 


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