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Last Posted: May 31, 2023
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Muscular dystrophy gene therapy nears approval, but safety concerns linger Use of viruses poses significant risks and, for now, prevents retreatment if benefits fade
J Kaiser, Science, May 23, 2023

Because of a mutation in the gene for dystrophin, DMD patients lack functioning copies of the huge protein that serves as a shock absorber inside muscle fiber cells. Without it, muscle cells become damaged and gradually die. Patients usually end up using a wheelchair by age 12 and succumb to heart or respiratory problems by age 30. (Most are boys; the dystrophin gene is on the X chromosome, so girls have two copies and rarely develop DMD.) Existing therapies are only modestly effective.

What is Muscular Dystrophy?
CDC, 2023

Muscular dystrophies are a group of muscle diseases caused by mutations in a person’s genes. Over time, muscle weakness decreases mobility, making everyday tasks difficult. There are many kinds of muscular dystrophy, each affecting specific muscle groups, with signs and symptoms appearing at different ages, and varying in severity. Muscular dystrophy can run in families, or a person can be the first in their family to have a muscular dystrophy.

Wearables and AI better predict the progression of muscular dystrophy
Nature Medicine, January 20, 2023

Clinical trials in neurological diseases often involve subjective, qualitative endpoints, such ‘by eye’ observations of movement. We developed an artificial intelligence–based method to analyze natural daily behavior data from people with Duchenne muscular dystrophy, using machine-learning algorithms to accurately predict their personal disease trajectories better than conventional clinical assessments.

Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy.
Ricotti Valeria et al. Nature medicine 2023 1

Artificial intelligence has the potential to revolutionize healthcare, yet clinical trials in neurological diseases continue to rely on subjective, semiquantitative and motivation-dependent endpoints for drug development. To overcome this limitation, we collected a digital readout of whole-body movement behavior of patients with Duchenne muscular dystrophy (DMD) (n?=?21) and age-matched controls (n?=?17).

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