Translarna preserved walking for over 5 years in DMD boys, Data Show

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Treatment with Translarna (ataluren) delayed loss of walking ability for more than five years in boys with Duchenne muscular dystrophy (DMD) who carry nonsense mutations in their DMD gene, according to a study based on real-world data.

The experimental treatment also slowed the decline in lung function by nearly two years.

These most recent results from the STRIDE registry – an ongoing, observational, international study – were presented at the 2021 World Muscle Society (WMS) Virtual Congress, which will be held September 20-24.

“The five-year analysis of the STRIDE registry clearly demonstrates the profound impact of Translarna on changing the course of disease progression. We are all proud to see the life-changing effect of Translana on boys with Duchenne, ”said Stuart Peltz, PhD, CEO of PTC Therapeutics, the developer of the therapy, in a press release. “The robustness of the results showing both a five-year delay in walking loss as well as its ability to prolong lung function confirms what we have seen in our clinical trials.”

The results “add to the body of evidence of the benefits of Translarna for patients and their families,” he added.

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The STRIDE study (NCT02369731), conducted in partnership with the TREAT-NMD neuromuscular network, follows patients treated with Translarna, plus standard care (including corticosteroids), for at least five years.

The main objective of the study is to assess the current and actual use of Translarna in people with a nonsense mutation in their DMD uncomfortable. This gene provides instructions for making dystrophin, one of the groups of proteins that work together to strengthen muscle fibers and protect them from damage.

An absurd mutation in the DMD gene prematurely stops dystrophin production, leading to a shorter inactive protein, causing muscles to weaken over time. Translarna allows cells to ignore this mutation and generate functional dystrophin.

Data from 241 boys – recruited from 13 countries over five years – were compared to DMD patients receiving standard treatment in the CINRG study (NCT00468832), designed to observe the natural course of the disease over the long term.

Analysis of five years of registry data found that boys treated with Translarna plus standard care lost their walking skills at the median age of 17.9 years, compared with 12.5 years for those who received only the standard treatment, that is to say an improvement of more than five years.

By the age of 12, 80% of boys who received Translarna were still walking, compared to 52% at CINRG.

A decrease in lung function of less than 60% in boys treated with Translarna occurred at the median age of 17.6 years compared with 15.8 years for those who did not receive treatment, a difference of 1.8 years. Lung function below 60% is considered the benchmark for starting respiratory physiotherapy, PTC said.

“Watching your child lose their abilities, until they can no longer walk or even breathe without help is heartbreaking,” said Filippo Buccella, patient advocate and founder of MD Parent Project Italy. “We are starting to see more and more evidence that Translarna has the potential to give children many more years of freedom, and it will bring real hope to us parents. “

Translarna was well tolerated, with adverse event data consistent with the known safety profile, representing over 1000 patient-years of exposure – a measure that takes into account the patients treated and the duration of the study.

Translarna is approved in Europe for DMD patients 2 years of age and older who have nonsense mutations and can walk. The extension of its use to people unable to walk has recently been recommended. In the United States, however, the United States Food and Drug Administration rejected PTC’s offer for approval of Translarna, citing insufficient evidence to support its effectiveness.

The company is currently testing the long-term impact of Translarna on walking ability in a phase 3, placebo-controlled clinical trial (NCT03179631) in 250 boys, 5 years and older, who can walk.

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