Dear Everyone, 

On September 15, 2023, the European Medicines Agency (EMA) issued a negative opinion regarding the renewal of the conditional marketing authorization of Translarna™️ (ataluren) as treatment for Duchenne muscular dystrophy patients with nonsense mutations. 

Following this opinion, the company has applied for a review, which means that it will be possible to continue using Ataluren until the EMA issues a second opinion, expected at the end of January. 

Our concern now is that we may no longer benefit from a drug that, for years, has been the only specific treatment option for Duchenne patients with a nonsense mutation.

Duchenne muscular dystrophy is a rare genetic condition affecting approximately 1 out of every 5,000 males. It leads to a progressive deterioration of all muscles of the body. The first symptoms of the disease appear when our children are very young, and worsen along the years progressing from the loss of function of lower limbs, to loss of function of upper limbs and ultimately involving heart and respiratory muscles. 

Duchenne is caused by a mutation in the gene that encodes a protein called dystrophin. Without dystrophin, muscles are not able to function or repair themselves properly. 

Drawing from our extensive experience as parents and family members of children and young men with DMD, we witness every day the complexity and gravity of this disease, as well-known by physicians who strive with expertise and dedication to alleviate the suffering that comes with such a dramatic event. 

We have ample evidence that ataluren is relatively safe, with no serious side effects or adverse events identified. According to our families, after years of effective use, ataluren is a safe and an easy medication to use with children. The slowing of disease progression is commonly observed and often exceeds expectations.

The families and caregivers of the boys who participated in the trial have enough evidence that ataluren works: 

• Many families noticed the decline slowing down
• It is showing effects across the entire range of patients
• It is showing effects even in the most severely affected ones.

Our families' reports on ataluren align with published data from the STRIDE registry, which offers a unique opportunity to directly observe the long-term benefits of ataluren in terms of delaying the loss of ambulation. With approximately 300 boys treated for an average of 5.5 years, there is a 3.5-year delay in the loss of ambulation for ataluren-treated patients compared with the CINRG natural history population. Yet, we feel that the EMA’s Committee for Medicinal Products for Human Use (CHMP), in its statement, may have understated this crucial source of Real-World Evidence (RWE) by raising methodological doubts.

We acknowledge the complexity of the CHMP work and the necessity for decisions based on regulations-compliant methodologies. However, we believe that, in reviewing the scientific evidence regarding DMD, it is essential to adopt a broad perspective, assessing all available evidence without preconceptions.

What we anticipate, and what our families and our children are eagerly awaiting, is that the CHMP committee continues to assure those already affected by DMD due to a nonsense mutation, the possibility to Hope. 

Ataluren is not the cure, we are well aware of that, but it allows us to gain time. And time, for patients with DMD, is crucial since the disease, in the absence of specific treatments, progresses rapidly.

Our boys do not have time to waste.

Our families have their own point of view and they are not expecting miracles,  it would be good indeed (and this is our dream), but we would be happy with a stabilization, that would be our way to buy some time. 

Slowing down DMD and preserving upper body function is as critical to older boys as preserving ambulation is to younger ones. Boys who have lost ambulation want to preserve their freedom to perform daily functions, such as using a laptop, driving a wheelchair, feeding themselves, or transferring to a toilet.

It is crucial to remember that Duchenne is a degenerative and progressive disease. As parents, we know that the delay in the loss of ambulation also means delaying self-eating and ventilation, meaningful factors for daily life activities.

As parents of children with Duchenne, we understand that every day counts, and we are gratified to see such progress in drug development. We also acknowledge that drugs are approved based on data and not emotions. We appreciate the fact that regulatory agencies may be risk-adverse. But "doing nothing and having a potentially effective drug canceled" is also a risk, not often taken into consideration.

If we cancel Ataluren, we need to assume the risks of doing nothing. 

Before definitively canceling even the small results that have been obtained with ataluren, we believe it is important to give our contribution. With hundreds of children and young men now in treatment, all over the world, some of them for 10 years now, we believe it is important to bring our voice to ask that the evaluation takes into account the consideration of the opinions of these children and their families.

Today, we ask each of you to take part in this petition towards the EMA.  

We are determined to do everything in our power to avoid the risk of doing nothing. 

We want to buy some time for our children. 

At least 800 patients in Europe will be impacted by EMA’s decision

Help us raise our voice