Summary of the family conference in Houston, 2022

La conferenza biennale delle famiglie si e' tenuta a Houston (Texas, USA) dal 23 al 24 settembbre 2022. E' stata organizzata dal Prof. Zoghbi dell'Istitituto di Ricerca Neurologico di Houston, Texas. The programme was very intensive and focused on the scientific progress of the syndrome.

David Covini, vice-president of the association "Les petits Mec P2", president of the Austrian association "Lasst uns MDS heilen" and member of the scientific committee of these two associations, took part in the event. Ha incontrato le altre famiglie, i membri delle associazioni americane e i ricercatori.

David also met Prof.ssa Zoghbi and her team. At this meeting, we discussed the progress of current projects in order to identify the aspects that require the support and contribution of the association.

Prof. ssa Huda Zoghbi, Dr. Davut Pehlivan and Dr. Bernhard Suter summarise for us the key points that emerged during the conference:

• Ionis Pharmaceuticals plans to launch a study to monitor the natural evolution of the MDS disease in 2023. Questo studio si dovrebbe svolgere negli Stati Uniti e dovrebbe inclusere circa 40 individui affetti da MDS. Questo studio comportera' visite trimestrali nel primo anno seguite da visite semestrali dal secondo anno. Ionis intende iniziare a interagire con l'FDA nel 2023. Non si tratterebbe comunque di una vera e propria richiesta di approvazione IND (Investitional New Drug application). Future changes will be made by Ionis Pharmaceuticals.

• Dr Davut Pehlivan and Sameer Bajikar have taken stock of genomic studies. These studies show the existence of various types of duplication (e.g. semplice, complessa and triplicazione). The measurement of MeCP2 protein levels determines ASO (Antisense Oligonucleotide) doses. It is possible to access this study from anywhere in the world.

• Dr.ssa Mirjana Maletic-Savatic spoke about biomarker studies. Gli studi volti a identificare biomarker sono in corso. Some of them seem to be able to differentiate between MDS, Rett and healthy individuals. Our aim is to reduce the list of biomarker candidates so as to identify one or two very reliable biomarkers who can provide information on the severity of the disease and the response to ASOs.

• Dr.ssa. Sarika Peters and Jeff Neul spoke about the progress made in measuring the results of a clinical study. Si fara' lo sforzo di sviluppare una scala clinica multicentrica per poterla poi utilizzare nel successivo studio clinico.

• Il Dr Zhenya Ivakine ha presentato un nuovo modello di topo che esprime sia MECP2 che IRAK1 con l'obiettivo di disporre di un miglior modello animale per lo studio dell'MDS. Ha anche fornito un aggiornamento sull'editing del genoma basato su CRISPR/Cas9 nella Sindrome da Duplicazione di MECP2. Although the results are promising, further laboratory studies will be necessary before moving on to human studies.

• Dr Ashley Anderson presented the results of a screening aimed at finding new MeCP2 regulators. The introduction of these regulators could lead to new treatments to cure this disease. Tuttavia questi studi sono nel loro stadio iniziale e necessiteranno di ulteriore lavoro.

• Clinical experts have also spoken of common problems (e.g. gastrointestinal problems, epilepsy, frequent infections) in patients with duplication. Given that epilepsy is the main problem causing patients to regress and that there are no clear guidelines for treating crises, they intend to launch a wide-ranging survey.