Our goal is to support researchers, institutions and patients

I’ve had one fixed goal for more than 25 years: find a cure for Duchenne muscular dystrophy. At the time of the last Only Watch we were filing for a clinical trial authorization from the sanitary authorities for a molecule we’ve developed. Now we have that authorization, and we are starting the safety phase. But beware, it’s a sprint type of effort with the duration of a marathon: the trial is starting now but it’s the result of years of work and there are many more steps and developments to come, we must stay focused.

Without Only Watch we would not be where we are today, at a clinical stage, we would still be people with ideas. Thanks to the means it gives us, not only have we shown it’s feasible – we went from ground 0 to clinical stage – but it allows us to have the ambition to develop our technology for other diseases. A big thank you to the Only Watch community.

I split my time between consultations at the hospital and research in the laboratory. On the clinical side, I see patients suffering from neuromuscular disorders, amongst whom many with Duchenne muscular dystrophy. Currently I’m also responsible for patients who take part in the clinical trial testing the SQY51 molecule – a clinical trial of which the promoter, SQY Therapeutics, is run by parents of Duchenne patients, and funded by charity funds, from Only Watch.

On the research side, I work with collaborators, some of whom are Master’s or PhD students, on projects aiming to gain a better understanding of the underlying mechanism of DMD, as well as to develop novel therapeutic avenues. This part of my work has also been supported by the charity for years. Being able to pursue both (clinical work and research) has always allowed me to go further in both fields.

This job allows me to develop as a human being and as a neuropediatrician. I thank the Only Project for its support and wish to continue working on this path of hope to improve the life quality of our patients and what we wish for them all, with all our efforts and all our hearts, their healing.

My key areas of research are the prevention and treatment of heart failure and sudden death, which are the most frequent manifestations of cardiomyopathies in this condition, along with the study of their underlying molecular mechanisms.

I had the opportunity to set up the largest database worldwide dedicated to cardiac disease in Duchenne muscular dystrophy. This project, financed with Only Watch funds, contributed to improving the standard of patient care. I am also involved in various translational research programs involving specialists in both clinical and fundamental research, which are essential to develop innovative treatments to cure this complex genetic disease

As a project leader, I coordinate projects led by Prof. Karim Wahbi aimed at improving the cardiac care of DMD patients. These projects are based on the careful collection of quality clinical and genetic data from as many patients as possible in dedicated databases, the analysis of which allows to improve patient care and to set up trials evaluating new therapies.

As a Professor, I’m extremely keen on supporting the emergence of a next generation of researchers – women and men – and to help them to create bonds with each other, communities, so as to share knowledge, experience and create synergies. Funding granted by the association has allowed me to offer such perspectives to students.
As a researcher myself and a thesis director, it has also allowed me to continue to explore subjects that I would have had to give up otherwise.

Working under Pr. Marcelle’s guidance on the following thesis project « Muscle fusion as a delivery mechanism to repair ailing muscles from heritable muscle diseases ».

Pr. Jaconi‘s ongoing work on « Immortal immunoprivileged myogenic stem cells for gene therapy of muscular dystrophy » spans over two years (2022-2023) and is financed by our charity’s « Paul Pettavino fellowship » granted through the Fondation Suisse pour la Recherche sur les Maladies Musculaires (FSRMM). The goal of her research is to overcome known obstacles to the prospect of effective stem cell therapy for Duchenne muscular dystrophy patients.

The Only Project’s (AMM) funding was critical for supporting our research leading to one of the widely used production platforms for recombinant adeno-associated virus. The NIH has outlicensed our technology and materials to several companies including uniQure and BioMarin and both have FDA or EMA approve gene therapies based on our platform. (…) It’s unlikely that this would have occurred without the AMM’s support. I’ll always be grateful for the support, confidence, and trust.