Dto 27 to 29 June atHoliday Inn Parco dei Medici in Rome the international congress will be held “CDKL5 All Involution“, With about 300 participants between families, children with CDKL5 deficit disorder, researchers from all over the world, clinical and representatives of the pharmaceutical industry. A precious moment of meeting between the world of science and families, for Build new alliances and strengthen dialogue twho lives this reality daily and who works to understand and fight it. At the congress there will be 41 children and young people aged between a few months and 29 years with CDKL5 deficit disordercoming from different parts of the world: from the United States to Australia, from the Philippines to Japan.
Worldwide, about 1,500 diagnosed cases are estimated. In Italy, according to the Portal of rare diseasesthere are at least 150 diagnosed patients. However, the number of non -diagnosed cases is more higher, however, due to the poor knowledge of the disease.
Rare genetic diseases: what is CDKL5 deficit disorder
CDKL5 deficit disorder is a rare genetic disease that It affects both children and girls (although the latter are more numerous) and cause serious problems of motor and neurological development, including epilepsy.
Most of these children cannot walk, speak or feed independently. To date, it is not given diagnosis during pregnancy, unless a specific and not routine analysis is made. It is not considered an inheritance pathology, but it is recommended to do atargeted investigation in case of subsequent pregnancies. The identification of the syndrome is often difficult and the early diagnosis can be complicated.
Congress in Rome
Great space to research will be dedicated to the congress. Different presentations on current research, conducted by international scientists, will be held both in a session dedicated to families and in another aimed at pharmaceutical companies. Will be presented Seven scientific projects from young Italian researchers and will be the subject of evaluation by the scientific committee present. In confirmation of the importance of the appointment, there will also be the Loulou Foundationone of the most active international organizations in the promotion and financing of research to find a cdkl5 deficit disorder.
Rare genetic diseases: replacement protein therapy
The efforts of the researchers are focusing on replacement protein therapy, which for example the Professor Maria Luisa Tutino of the Federico II University of Naples is dealing. The researcher has a daughter with CDKL5 deficit disorder. His studies were concentrated on rare diseases even before the birth of Elettra Yvonne (now 15 years old). Now he is carrying out studies on Replacement protein therapy, through the production of human protein in bacteria isolated from sea water in Antarctica.
Among other research there are genical therapy – of which in Italy the Professor Elisabetta Ciani, associated with the Department of Biomedical and Neuromotorial Sciences of the University of Bologna – is occupied among others Direct drug therapy to microtubules, which is the heart of the Samael projectlaunched by the private company based in Dublin Ulysses Neuroscience LDT and Cure5, who studies a new family of molecules, called Angel Compounds, derived from neurosteroids and designed by Professor Massimiliano Bianchi, CEO and founder of Ulysses Neuroscience Ltd.
Direct drug therapy to microtubules
The heart of the new “Samael” projectlaunched by Ulysses neuroscience LDT and Cure5, It is a new family of molecules, called Angel Compounds, derived from neurosteroids and designed by Professor Massimiliano BianchiCEO and founder of Ulysses Neuroscience Ltd (https://ullysss-heuro.ie/). These molecular compounds act directly on the micro -tubes, fundamental components of the neuronal cytoskeleton, whose functionality is seriously compromised in those with the CDKL5 deficit. “Restoring the dynamism of microtubules, we aim to reactivate brain development and synaptic connectivity in CDKL5-compairy neurons»Explains Bianchi.
What does the intestinal microbiota have to do with it?
Until now the therapies have focused mainly on the brain, but an unexpected turning point could come from a study coordinated by Sant’Anna High School of Pisa and published in the magazine Cell reports. For the first time it has been demonstrated as an imbalance in the intestinal microbiota (the set of bacteria that populate our intestine) has a causal role in some neurological symptoms of the deficiency of CDKL5 deficiency. “Modging the intestinal microbiota, for example with targeted probiotics, specific diets or even microbiota transplantation, we could be able to improve the quality of life of patients and enhance the effectiveness of other therapies”, explains the researcher Paola Togninicoordinator of the study.
Molecular therapy
It is a system for selectively reactivate the inactive X chromosome of patientsi.e. the extinguished CDKL5 gene, without having to introduce any exogenous gene. It is a study that is carrying out an American doctor, the professor of neurology Kyle Fink (https://health.ucdavis.edu/neurology/faculty/fink.html). This extremely complex approach but could rekindle the healthy protein. The FDA, Food and Drug Administration American, has given authorization to Dr. Fink to bring this therapy to a clinical level. The researcher Fink will be at the conference to present his work.
The CDKL5 association – together with the treatment
The “Cdkl5 all Involution” international congress was organized byCDKL5 Association – Together towards the treatment. The association was founded in 2014 by a group of parents who, in the misfortune of the disease of their children, had the strength to join and understand the importance of the fundraising to support research. The president of the association is Barbara Verdirame and the board is made up of 5 other parents. The numerous funds collected in recent years have allowed us to donate over 900 thousand euros to several entities to support research. From 14 December 2014, the day of the foundation of the Association, Land numerous funds undertaken have made it possible to donate over 900 thousand euros to several entities to support research. Together with other national family associations and foundations scattered around the world, the CDKL5 Alliance. The main purpose of the alliance is that of monitor the growth of the international community CDD (CDKL5 Deficiency Disorder) building a firm bond between all existing and future organizations.
The National Register CDKL5
The Association, in collaboration with the Professor Sunday Immaculate Battle of the Gemelli Polyclinic of Rome, a specialist in child neuropsychiatry, he was commissioned to create the National CDKL5 registera fundamental tool for the collection of information relating to CDKL5 patients in the Italian territory. The register is also active in Verona, thanks to the Professor Francesca Darraspecialist in child neuropsychiatry at the Department of Biomedical and Neuromotor Sciences – UOC Director of Child Neuropsychiatry at the Integrated University Hospital of Verona (GB Rossi Polyclinic).
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