Spanish hospital conducts clinical trial of Tolerability and Efficacy of L-Serine in Patients With GRIN-related Encephalopathy
Photo by Edmund Lou
Fundació Sant Joan de Déu is enrolling patients into the clinical trial investigating Tolerability and Efficacy of L-Serine in Patients With GRIN-related Encephalopathy.
RIN-related disorders encompass a new group of Inborn Errors of Metabolism according to the recent nosology published by Ferreira et al (Genet Med, 2019).
These rare conditions represent a subtype of paediatric encephalopathies leading to intellectual disability, hypotonia, communication deficits and motor impairment.
Mutations leading to glutamatergic hypotransmission can be potentially treated with L-Serine leading to significant clinical benefits in patients according to a study published by our group (Soto et al, 2019).
In this study, the investigators will include about 20 spanish patients older than 2 years of age, harbouring GRIN variants functionally anotated as loss-of-function pathogenic variants. The investigators will evaluate dose tolerability, efficacy of the treatment according to neurocognitive and motor scales, as well as the effects of L-serine in microbiome composition.
The trial is designed to enroll male and female 2 years to 18 years and is being conducted in the Hospital Sant Joan de Deu, Barcelona, Esplugues De Llobregat, Spain.
The study start date is July 30, 2020.
There are inclusion criteria:
- Diagnosis of encephalopathy associated with genetic GRIN variant pathogenic or likely pathogenic, causing a loss-of-function.
- Parent(s)/legal representative give written informed consent for participation in the trial; patient assent (if possessing adequate understanding, in the investigator's).
- Patient & caregiver are willing and able (in the investigator's opinion) to comply with all trial requirements (including the completion of all caregiver assessments by the same caregiver throughout the trial).
This page provides a more detailed overview of this clinical trial: https://ichgcp.net/clinical-trials-registry/NCT04646447
