Мы признаем, что все люди с синдромом Fragile X имеют равную ценность и право на те же возможности, что и все остальные. Наша цель - помочь людям, живущим с синдромом Хрупкой Х (FXS), сопутствующими мутациями Хрупкой Х (FXPAC), и их семьям в любой точке мира жить счастливой жизнью.
Fragile X International - это сеть, в которой власть над действиями находится в руках людей с FX. FX - это не болезнь, а состояние: мы будем способствовать социальной интеграции людей с FX на всех уровнях общества. Мы будем выступать за то, чтобы люди, живущие с FXS и FXPAC, не были вынуждены соответствовать обществу, а принимали их такими, какие они есть. Для достижения этой цели мы призываем все наши семейные организации включить в свой совет хотя бы одного человека с FXS.
Миссия
Fragile X International - это сеть организаций, объединяющих семьи, которые будут работать вместе, чтобы продвигать, поддерживать и укреплять идентичность FX как дополнительную ценность для общества. Наша цель - расширить знания о сильных сторонах людей с FXS; выделить области, в которых им может потребоваться поддержка; повысить осведомленность и стимулировать исследования в области FXPAC; поделиться знаниями в надежде, что однажды FX будет признан за пользу, которую он приносит обществу.
Независимость
Fragile X International has a policy not to join consortium or co-sponsor clinical drug trials. This is in order to maintain the independence of the patient voice. FraXI represents family organisations and those living with FXS. Our vision and mission is to create a world where all those living with FXS are recognised for the value they bring to society. We support research and work with clinicians, but need to stay appropriately distanced from being directly linked to particular drug trials.
Milestones – A timeline of FraXI
2012
INTERNATIONAL FRAGILE X DAY
The European Fragile X Network initiated International Fragile X Awareness Day on the 10th day of the 10th month: X.X.
2018
NON-MEDICAL INTERVENTIONS
The European Fragile X Network helped modify how the treatment of Fragile X Syndrome is described in Orphanet to emphasise non-medical interventions “Speech, physical and sensory integration therapy as well as individualized educational plans and behavioral interventions”. (https://orpha.net/consor/cgi-bin/OC_Exp.php? Ing=EN&Expert=908)
2020
FXPAC
The country associations worked together to introduce the term Fragile X Premutation Associated Conditions (FXPAC). published здесь.
2022
GENE NAME CHANGE
FraXI representatives led in changing the name of the FMR1 gene and of the FMRP protein.
2022
FRAXI IS LAUNCHED
FraXI formed the first ever internationally-registered Fragile X charity open to all FX organizations (either as full or associate members). We have a Vision! We are sharing our Vision, Mission and Values on our Website: www.fraxi.org. FraXI is working with partners across Europe to develop European guidelines for Fragile X Syndrome.
FraXI led in the renaming of the FMR1 gene – see our article здесь and further info on our website здесь.
2023
NEW FRAXI MEMBERS
Fragile X Association Australia and Fragile X New Zealand are new FraXI Full Members. The National Fragile X Foundation (U.S.) is a new FraXI Associate Member.
2024
ADVOCACY AND AWARENESS
- FraXI Congress 2024 in Barcelona, Spain, 7-10 November
- Growing our membership
- Raising awareness on International bodies and leading up to X.X. 2024
- Providing resources and webinars on best practices for our members
2025
We continue to build capacity and welcome new members.
In May 2025 our President spoke at the World Health Assembly side event on the WHA Resolution for Rare Diseases, which was adopted and will lead to a Global Action Plan for rare conditions.
FraXI took part in the International Fragile X Workshop held in Padova, Italy; in the International Fragile X Premutation Conference, Bari, Italy; and in the Neurodevelopmental Disorders Conference, Noordvijk, The Netherlands. At these conferences, we represent the voice of those living with FXS and FXPAC to professionals.
In 2025, our Abstracts of our first FraXI International Congress were published; and we embarked on writing clinical practice FX Guidelines with an international group of clinicians and scientists, to be adopted by ERN ITHACA upon completion.
We continue work on developing a Fragile X Federated Data Platform, to link data sets from around the world in order to further research.
We also have worked with the University of Surrey in launching a survey to hear the research priorities of those living with Fragile X Syndrome and their families.
