The development of a clinical guide for Kleefstra syndrome has been kicked off
In a few days we have my daughter’s next pediatric check-up, an annual examination for all children in Germany, to check their growth and development. Julia (almost three years old) is – apart from her significant slower development – a healthy girl. As we don’t often visit the pediatrician, I like to use this appointment to share possible problems associated with her condition and discuss the need for additional tests or check-ups. I gather information that parents have shared, from congresses, scientific publications, or any questions that concern me. Julia is the only patient with Kleefstra syndrome attended by our pediatrician and often she learns about KS from me. Does this sound familiar to you?
Kleefstra syndrome is one of the 7,000 rare diseases that exist. It is a new syndrome, with low incidence, heterogeneous clinical manifestations and little scientific evidence. A perfect cocktail to disconcert the professionals who follow patients with this syndrome. A key instrument to provide clinicians with knowledge and to optimize healthcare are clinical guides. These guides are a set of recommendations based on a systematic review of the scientific evidence.
European Reference Network (ERN) ITHACA: Yes to a clinical guide for the Kleefstra Syndrome
And now, we have good news! Within the framework of the European Reference Network (ERN) ITHACA chaired by Prof. Alain Verloes, it has been decided that Kleefstra syndrome will be one of the syndromes for the development of an international clinical guide. It’s great, isn’t it? Prof. Tjitske Kleefstra will be chairing and coordinating this initiative together with Klea Vyshka from ERN ITHACA. Geoff Rhyne from iDefine will support the coordination of the working groups.
This is a global effort, and therefore the collaboration of medical specialists from all over the world has been requested. Parents and patient representatives have also been asked to share their views. The content of the guide will cover an overview of KS, information about the care of children and adults, issues related to the digestive system, sleep, sensory information, development, speech and communication, behavior and medication and regression. It will also highlight aspects of genotype and phenotype.
Professionals will have a guide a their disposal to provide the best care
Yesterday the first meeting of the KS consortium was held. Asklemad, the Kleefstra Syndrome Association of Madrid, with its president Cristina Gutiérrez, also attended the meeting to support the development of this desired clinical guide. We are very proud and excited to be able to work on this project with many other collaborators and to ensure that the needs of those affected by this syndrome are reflected. We are going to work hard to produce a comprehensive and high quality guide. This is a big step forward. I am happy to know that in the very near future, at my child’s check-ups, professionals will have a guide a their disposal to provide the best care for my daughter and many other KS children.
The Clinical Guide from ERN ITHACA is expected to be launched by mid-2023 at the latest.