CDKL5 Alliance Fr

[CDKL5 Alliance Fr @CdklFr]

Journée mondiale cdkl5. Vidéo des familles françaises.
#CDKL5 #CDD #epilepsie https://t.co/hu2GaGwdGc

[CDKL5 Alliance Fr @CdklFr]

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

[CDKL5 Alliance Fr @CdklFr]

⚡️ 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

[Ana Mingorance @CNSdrughunter]

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

[Marinus @MarinusPharma]

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.

[Marinus @MarinusPharma]

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

[Heidi Grabenstatter @PatientIntv]

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

[RarasNoInvisibles @NoInvisibles]

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

[CDKL5 Alliance Fr @CdklFr]

C'est ma journée

https://t.co/k13KhMj7Xd

#CDKL5 #CDKL5awarenssday #CDKL5AllianceFrancophone #WorldCDKL5Day

[Ana Mingorance @CNSdrughunter]

Press release: https://t.co/xrL6wNMlGH

[Ángel Aledo-Serrano @AledoNeuro]

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

[CDKL5 Alliance Fr @CdklFr]

Rejoignez le mouvement et libérez votre générosité.
https://t.co/TJ287Ncin0

#cdkl5 #GivingTuesday2019 #RareDisease

[CDKL5 Alliance Fr @CdklFr]

@CNSdrughunter @CDKL5Alliance @CDKL5USA @CDKL5Cad @ArtForHLC @PatientIntv @CDKL5UK @AAledo @Cdkl5ireland @FinkLab Version française https://t.co/N0VIzpMlwJ

[Ana Mingorance @CNSdrughunter]

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

[Ana Mingorance @CNSdrughunter]

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!

[Ana Mingorance @CNSdrughunter]

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.

[Ana Mingorance @CNSdrughunter]

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.

[Ángel Aledo-Serrano @AledoNeuro]

#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

[CDKL5 Alliance Fr @CdklFr]

Suivez notre super papa ! https://t.co/8xnbGNDhsc

#diagonaledesfous
#cdkl5
#RareDisease

[Ana Mingorance @CNSdrughunter]

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