CDKL5 Alliance Fr
@CdklFr
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Aujourd'hui c'est la journée mondiale des maladies rares. Une balade à son rythme, ou autre pour soutenir notre association: https://t.co/erVPd3SeDu
#cdkl5
#yeswename
#rarediseaseday
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⚡️ Lundi 8 février 2021, journée internationale de l’épilepsie. 📊 L’épilepsie est une maladie neurologique chronique. La plupart des enfants touchés par le trouble CDKL5 souffrent de crises d’épilepsie qui commencent dans les 8 premiers mois de vie. #CDKL5 #EpilepsyDay
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Wonderful news!! EMA approves fenfluramine for the treatment of Dravet syndrome in patients 2 years of age and older. The official marketing authorisation is issued by the European Commission by the end of the year. https://t.co/ccxMfyuaBu
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We are humbled to be awarded The LouLou Foundation's Company Making a Difference Award – Clinical in recognition of the first successful recruitment of a pivotal and international clinical trial and recent positive data from our #MarigoldStudy.
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A milestone day for Marinus and the #CDD community, we are thrilled to announce results from our Phase 3 #MarigoldStudy for children and young adults with CDKL5 Deficiency Disorder. Full $MRNS top-line results: https://t.co/GPZTWv9iTv
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Join us for the 5th International #CDKL5 Family Education & Awareness Conference. - Benefit begins at 8:00 PM ET Tonight - Fri.- Sat.: broadcasting to YouTube Live and FB! Details at https://t.co/BPxukamVkI -Find livecast agenda here : https://t.co/R2xk8TWPdv
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El investigador del @IBECBarcelona, @ciberned, Arnau Hervera contribuye a una nueva vía para identificar tratamientos para una enfermedad rara conocida como Síndrome por deficiencia #CDKL5 #CDD Avances en Tto. #EERR #366diasdeEERR En @CatVanguardista👇 https://t.co/FO9zTKRdHe
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C'est ma journée https://t.co/k13KhMj7Xd
#CDKL5 #CDKL5awarenssday #CDKL5AllianceFrancophone #WorldCDKL5Day
facebook.com
17 Juin Journée mondiale CDKL5 7 minutes pour... 🗣 Partager, échanger, communiquer, informer 🧑🏻🔬 Connaître, chercher, essayer, guérir 💚 Réunir, rassembler, rassurer, croire 💫 Guerriers,...
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Press release:
Super good news for #CDKL5 deficiency disorder, we got a new ICD-10 diagnostic code that will start in October. If your #RareDisease does not have an ICD-10 code and you want to apply for one see how we did it: https://t.co/ErQBKHiery
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Encefalopatía epiléptica relacionada con #CDKL5. Infradiagnosticada, y actualmente con ensayos clínicos específicos. Queda mucho por divulgar para disminuir la brecha diagnóstica. Compartimos la presentación pdf que tuvo lugar en la Reunión de Familiares: https://t.co/UiA7o42Han
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Rejoignez le mouvement et libérez votre générosité. https://t.co/TJ287Ncin0
#cdkl5 #GivingTuesday2019 #RareDisease
facebook.com
Le 3 décembre c’est la journée internationale du DON. Je voudrais commencer par dire Merci aux personnes qui, tout au long de l’année, donnent de leur temps pour faire vivre l’association. Merci à...
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Here are the news about therapy development for #CDKL5 that we learnt at the #CDKL5Forum - not an ultra-rare disease - 4 trials and much more in development - gene therapy, gene editing and X reactivation - the voice of the patient and more... https://t.co/BINyCrQ4tD
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Correction!: session 3 at the #CDKL5forum was not over and we just saw the 4th CDD mouse study showing preclinical efficacy with a new drug. The drug (a PDE10A inhib) is being developed by Takeda and already got an orphan drug designation by FDA. A lot is coming up for #CDKL5!
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Session 1 at #CDKL5forum, learning about #CDKL5 protein function: It controls the neuronal “skeleton” and therefore the plasticity of synapses. This can be measured in blood tests! We also learned about a promising drug that fixes that skeleton and is therapeutic in CDD mice.
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We are starting the first day of the #CDKL5forum, when the #CDKL5 community comes together to review the state of the field. Representation from patient groups from 13 countries plus the @CDKL5Alliance!! And over 30 companies in the room.
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#Sleep disturbances are one of the main features of #CDKL5 deficiency disorder (CDD). Dr Cao hightlights some important correlations between preclinical and clinical data. Another field to be aware of for non-epilepsy clinical trial outcomes. #CDKL5forum
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Attention #CDKL5 community! the Loulou Foundation now has a FaceBook account. If you also use FB make sure you follow it to not miss any news👇🏼 https://t.co/JWteV2iYb2
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Según este estudio, el 25% (un cuarto!) de los niños con epilepsia que empiezan con < 3 años tienen epilepsias genéticas consideradas “raras” (SCN1A, PCDH19, CDKL5...). Conclusión: Ya no sabemos si son tan “raras” o que no se diagnostican. @CNSdrughunter gracias por compartirlo
‼️ Large genetic sequencing of all children with #epilepsy before 3 years of age: - It affects 2% of all kids - In 1 out of 4 cases they found a genetic cause: #SCN1A #KCNQ2 #GLUT1 #CDKL5 #PCDH19 and more -These "rare" syndromes are NOT so rare! Article: https://t.co/SIs49zhKa0
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