Yale School of Medicine: Genome Editing Is Crucial to the Future Treatment of Duchenne Muscular Dystrophy

Despite further research into the mechanisms of Duchenne muscular dystrophy (DMD), there is currently no appropriate treatment. DMD, like many other rare genetic disorders, leads to a decline in quality of life and early death. However, advances in gene editing technologies could soon alter that.

Boy With Duchenne Muscular Dystrophy

Boy With Duchenne Muscular Dystrophy

A recent publication from the Yale School of Medicine discloses the strategy that researchers are pursuing to create an appropriate treatment for Duchenne muscular dystrophy. One of the researchers is Monkol Lek, Ph.D., an Assistant Professor in the Department of Genetics at Yale School of Medicine, who has a strong passion for rare muscle disease research as a patient with Limb-Girdle Muscular dystrophy.

Monkol Lek and his teammates hope to conduct one of the first CRISPR clinical trials. They have finished the crucial pre-Investigational New Drug (pre-IND) Application meeting with FDA regulators, and they expect to perform further safety and effectiveness trials this year.

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What is Duchenne Muscular Dystrophy (DMD)?

Duchenne muscular dystrophy (DMD) is a rare neuromuscular X-linked disorder that belongs to a group of disorders called dystrophinopathies,  progressive hereditary degenerative diseases of skeletal muscles caused by an absence or deficiency of dystrophin, a protein. The global incidence of this disease is estimated to be 1 in every 5,000 boys. (Gao & McNally, 2015)

Duchenne muscular dystrophy mostly affects male children due to the dystrophin gene’s location on the X chromosome. (Giliberto et al. 2014) The shortage of functional dystrophin successively impairs the structure and performance of myofibers which are essential for the physiological growth of muscle tissue. (Gao & McNally, 2015)

Duchenne muscular dystrophy is characterized by skeletal muscle degeneration that begins at the age of 3 years and progresses to ambulation deficiency by the age of 13, caused by heart complications and respiratory problems, including chronic respiratory failure. (Birnkran et al. 2018)

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Additionally, a proportion of DMD patients also experience behavioral and cognitive impairment with intellectual disability, attention hyperactivity disorder (ADHD), and autism spectrum disorders (Hendriksen and Vles, 2008)

How is Duchenne Muscular Dystrophy (DMD) diagnosed?

A doctor normally starts diagnosing muscular dystrophy by taking a patient’s and family’s medical records and doing a physical examination. Pseudohypertrophy, lumbar spine divergence, gait abnormalities, and various degrees of reduced muscle reflexes can be discovered by doctors. (Ciafaloni et al. 2009)

The diagnosis of the pathology must be as early as possible, fast and precise, in order to guarantee an early start of the interventions on the patient. Given the clinical suspicion of DMD, serum creatine kinase levels should be determined, which in patients with DMD exceed 10-100 times normal values. If there is already a family history, a determination of CK levels should be carried out at the slightest suspicion. Other diagnostic tests include genetic tests and muscle biopsies. (Nascimiento et al. 2019)



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