Gene therapy study sought for brothers with rare muscular dystrophy

Neuromuscular specialist André Macedo has detailed the mechanics of gene therapy to treat limb-girdle muscular dystrophy type 2C, a rare condition affecting brothers Pedro and Tiago Fleming from Acre, Brazil. The disease is caused by the absence of the sarcoglycan protein, which is essential for muscle stability, leading to significant weakness in the limbs.

While current treatments focus on motor rehabilitation and physiotherapy to maintain muscle mass, medical experts are looking toward gene therapy. This experimental procedure involves manipulating the missing protein in a laboratory, converting it into DNA, and using a viral vector to deliver it to the patient. This process aims to enable the body to produce the necessary protein, thereby stabilizing muscle fibers.

The Fleming family is currently conducting a fundraising campaign to raise R$ 5.2 million to fund the brothers' participation in a gene therapy clinical study located in the United States.