Neurosciences

SCA42ND iPSCs

Brain organoïds

DNA samples from patients with Early-onset cerebellar atrophy

>40 patient cohort

> 15 patients

>15 patient cohort

Patient cohort

Brain organoïds (AD)

Brain organoïds (PD)

DNA from patients with Friedreich ataxia

Fibroblasts from patients with Freidreich ataxia

Gene therapy

Repurposing

Treatment and prediction of therapeutic responses in patients suffering from Friedreich ataxia

> 200 patients (pediatric and adult)

> 200 patients (pediatric and adult)

NCT04921930 – Evaluation of the Effect of Artesunate in Friedreich Ataxia (FA)

NCT05874388 – Characterisation of the Cognitive Profile of Patients Suffering From Friedreich’s Ataxia

Patient cohort

Patient cohort

> 200 patient cohort

Patient cohort

>50 atient cohort

NCT04259281 – A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome

NCT05127226 – HALOS: A Safety Tolerability Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome

NCT05630066 – Study to Investigate the Pharmacokinetics and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.

Transcranial magnetic stimulation protocol

>300 patient cohort

NCT04607616 – Interactive Guidance Therapy With Video Feed-back of Parent and Child With Autism Spectrum Disorder

NCT04442061 – Autism Spectrum Disorders: Double Blind Randomized Placebo-control Active Pilot Study of Transcranial Magnetic Stimulation Applied to the Superior Temporal Sulcus

NCT05271955 – e-GOLIAH in Autistic Spectrum Disorders

Patient cohort

Cerebellum specific Srd5a3 KO mice

>50 patient cohort

>30 patient cohort

NCT05163314 – A Study of Soticlestat as an Add-on Therapy in Children and Adults With Dravet Syndrome or Lennox-Gastaut Syndrome

NCT05772429 – Long-term Follow-up of a Multicentre Non-interventional Prospective Cohort of Participants Prescribed Epidyolex in France in a Real-life Setting (OPERA)

NCT04938427 – A Study of Soticlestat as an Add-on Therapy in Children Teenagers and Adults With Lennox-Gastaut Syndrome

>15 patient cohort

Patient cohort

>15 patient cohort

>35 patient cohort

Patient cohort

>10 patients cohort

>15 patient cohort

Patient cohort

> 120 patient cohort

NCT04940624 – A Study of Soticlestat as an Add-on Therapy in Children and Young Adults With Dravet Syndrome

NCT05163314 – A Study of Soticlestat as an Add-on Therapy in Children and Adults With Dravet Syndrome or Lennox-Gastaut Syndrome

NCT05772429 – Long-term Follow-up of a Multicentre Non-interventional Prospective Cohort of Participants Prescribed Epidyolex in France in a Real-life Setting (OPERA)

> 50 patient cohort

Endoscopic fetal surgery

Patient cohort

Patient cohort

Cell lines from patients with AGS

EBV-B

HEK cell line

HELA cell line

Singe-cell transcriptomics – CITE-seq protocol – Network inference analysis

THP1 cell line

>100 patients (mainly pediatric)

Fibroblasts from patients

IFNa IFNb dosage in patients’ cells supernatants – IFN signature – pSTAT3 and STING intracellular staining – pTBK1 elisa test – Apoptosis evaluation – T-reg suppression analysis -Phenotyping of T-reg CD4-/CD8- – Single-cell transcriptomics – CITE-seq protocol – Network inference analysis

iPSC from patients

PBMCs from patients

STING-KI mice (V154M CRISPR/Cas9)

20 patients (mainly pediatric)

Fibroblasts from patients with NBIA

Fibroblasts from patients with NBIA

Repurposing

> 10 patient cohort