Summary of the family conference in Manchester

On 28 October, members of our team: Ana (board member), Caroline (board member, vice-president), Jasmin (Ambassador in Germany) and Dr. Gudrun Gröppel (MDS medical expert) attended the MDS family reunion in Manchester.

It was a great opportunity for affected families and scientists to come together to share their experiences and hear about ways to improve the quality of life of those affected, research updates and the prospect of the Ionis clinical trial in 2024.

Here is a summary of the main topics covered during the presentations:

- Dr Pehlivan presented the results of a genetic study which identified correlations between genetic mutations and symptoms of the syndrome in patients. This study represents an important step forward in our understanding of this syndrome. Those present were also given the opportunity to donate blood to Dr Pehlivan to help further genetic research. Dr Pehlivan left us tubes for the blood samples. If you would like to participate and contribute to his research, please contact us and we will provide you with the necessary tubes and instructions.

- Dr Christine Coquery of Ionis Pharmaceutical gave an update on the MDS project with the antisense oligonucleotide (ASO) called ION440. The Natural History Study (NHS), conducted exclusively in the USA, has begun recruiting patients. The clinical trial of ION440 is scheduled to take place in the United States, Canada, Spain, the United Kingdom, France and Australia, subject to approval by the relevant authorities. In the first phase, ION440 will be administered to assess the safety and tolerability of ASO in a small group of patients. Further details will be provided once the study protocol has received regulatory approval.

- Specialists from the Texas Children's Hospital in Houston gave valuable advice on managing various symptoms linked to the syndrome, such as recurrent infections, overall developmental delays and gastrointestinal problems.

- Dr Santosh (King's College, London) presented a case study highlighting the potential of AI as a useful tool for assessing the benefit-risk ratio of treatment in young non-verbal patients, particularly those with Rett syndrome.

- Professor Huda Zoghbi closed the conference by expressing her gratitude to all the families, researchers and donors who have contributed to this project and its progress towards drug discovery. Her message of hope resonates deeply within the MDS community: "I'm very optimistic about the future and I'm very grateful."

At the end of the day, representatives of the associations gathered for a dinner organised by Ionis. It was a special moment that brought everyone together and allowed us to continue our discussions over a meal.

Many thanks to MECP2 duplication UK for organising the event. The day's presentations have been recorded and will be shared shortly with subtitles in 13 different languages.

If you have any questions, please do not hesitate to contact us.