We had a fantastic time as a community sharing experiences and hope for a cure last Friday 23rd of October 2026.

The day before we met at a nice typical French restaurant. We could savour good wine, cheese and delicious dishes altogether. We were so glad to have people from the US, Spain, Germany and France!

The next day we joined the Genethon at 12h

and had lunch with researchers. They welcomed us very warmly and we discussed a lot on how the disease impacts our life and how much we appreciate the job they are doing

Then we started to visit Genethon premises with the great guidance of Isabelle Richard and Abbas Jaber. We learned that Genethon has decoded human genome in 1995 paving the way to many gene therapies. We understood how the gene therapy allows to replace add a new gene that produces the ANO5 protein thanks to a AAV virus vector that they have developed.

We visited the premises and saw the labs and the freezing compartement that store more than 100 cell samples for many genetic diseases.

We learned that human DNA put in a line could make the way up and down to the moon!

Then we had a presentation of the most powerful scanning devices and microscopes they have to analyze muscle cells in very thin layers. We discovered the amazing images that they can get from muscle cells and check that the proteins are present.

They explained us how they have build muscle organoids from hiPSC cells (fiber cells and myoblasts). These muscle cells can be grown in as a ring so that they can perform tests (traction, compression, etc.) to see how the mini-muscle reacts. This has been done for LGMD R1 and Duchenne MD with very good results.

Then we went to a meeting room to meet 16 other participants with LGMD 2L online and discuss opportunities to launch a research program for ANO5.

We were very well surprised by the skills and the knowledge that Genethon has on LGMDs and discussed the opportunity to fund a new program to study the disease with the existing tool.

We were glad to know that a new ANO5 KO is already being developed that will allow us to have a better understanding of the disease in-vivo.

Although we are still in the pre-clinical phase, Genethon and other researchers have already cumulated a lot of experience that will allow to:

1. Find a biomarker / readout that allows to identify ANO5 deficiency in muscle cells.
2. Build a 3D ANO5 deficient muscle to test the physical behaviour.
3. Test biomarkers and physical behaviour on the ANO5 KO rat.
4. Construct a ANO5 transgene and promoter that can fit into a AAV virus targetting only skeletal muscle.
5. Select the most adapted AAV for ANO5 pathology (excluding sensitive organs, like heart and liver).
6. Discuss with FDA and EMA agencies to have an approval.

We asked them to provide a quote to develop this program in coordination with Dr Edoardo Malfatti’s team in order to get the best of the clinical experience and the genetic research to build a solution for a cure.

Natural history study for LGMD 2L

Isabelle highlighted the importance of a natural history study, like the one going in Virginia (US):

Study Details | NCT05989620 | Long-Term Development of Muscular Dystrophy Outcome Assessments | ClinicalTrials.gov

For those who are younger than 50 and that can attend 3 times in 2 years, it will be very important that you take part.

This will allow to assess the normal evolution of the disease.

Conclusion

We had a wonderful day visiting Genethon researchers and sharing their experience. If you are considering helping in this program in any possible way, please click on the Contact button and send us a mail!