Ataxia Telangiectasia Overview

Ataxia Telangiectasia (A-T) is an autosomal recessively inherited neurodegenerative disorder that also has dramatic effects on the immune and endocrine systems. The disorder results from mutations in the A-T mutated gene (ATM) leading to a loss in the production of the ATM protein. ATM plays an integral role in more than 100 different biochemical processes including cellular DNA repair, cell cycle control, cellular response to external triggers — such as oxidative damage, ionizing radiation, and alkylating agents. A-T, is a rare orphan disease that occurs in 1 in 40,000 to 100,000 people worldwide .

Cells lacking ATM are left defenseless and unable to repair cellular damaged DNA, to exhibit normal cell cycle control, to effectively respond to oxidative damage, ionizing radiation, and, alkylating agents, and to maintain a healthy immune response among others. A-T patients have increased oxidative stress and significantly reduced total antioxidant levels. In an early study directed to oxidative stress in A-T patients, Reichenbach et al. 1999 observed a decrease in the levels of total antioxidant capacity (TEAC; ↓77% of normal capacity) and major plasma lipophilic antioxidants: vitamin A (retinol) and vitamin E (α-tocopherol) in A-T patients.

MBM-01 as a Treatment for Ataxia Telangiectasia

The active compound in MBM-01 has been shown to supplant the overall role of ATM by reducing oxidative stress, reducing DNA double strand breaks, and decreasing programmed cell death (in healthy cells). Accordingly, MBM-01 represents a potential breakthrough therapy for patients afflicted with A-T by activating the genes NRF2 and BDNF in the brain. NRF2 and BDNF are essential genes that are downregulated in A-T. Upregulation of the genes BDNF and NRF2 have the potential to prevent the DNA damage, oxidative stress, and neurodegeneration observed in A-T patients.

MBI-10-01: Phase II/III Clinical Trial for the Treatment of Ataxia Telangiectasia

Matrix Biomed, Inc. is activating clinical trial MBI-10-01 and anticipates opening enrollment in the middle of 2021.

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