TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
The goal of this clinical study is to find out whether L-serine dietary supplementation helps improve overall clinical functioning in children and young adults (2-30 years) with GRIN-related neurodevelopmental disorders (GRIN-NDD) caused by loss-of-function (LoF) variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D. It will al
| Condition(s) | GRIN-related Disorders, GRIN1, GRIN2A, GRIN2B, GRIN2D, Epilepsy, Neurodevelopmental Disorder (Diagnosis) |
|---|---|
| Status | Recruiting |
| Phase | Phase 3 |
| Study type | Interventional |
| Summary | The goal of this clinical study is to find out whether L-serine dietary supplementation helps improve overall clinical functioning in children and young adults (2-30 years) with GRIN-related neurodevelopmental disorders (GRIN-NDD) caused by loss-of-function (LoF) variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D. It will also assess the safety and tolerability of L-serine. The main questions it aims to answer are: Does L-serine improve overall clinical status, measured mainly by the Clinical Global Impression-Severity (CGI-S) score? Does L-serine improve behaviour, cognition, adaptive functioning, motor skills, sleep, and (in those with epilepsy) seizure frequency and EEG findings? What side effects or medical problems occur during L-serine compared with placebo? Do neurophysiological measures |
| Who can participate | Inclusion Criteria: * Clinical diagnosis of a GRIN-related neurodevelopmental disorder (GRIN-NDD) * Presence of a pathogenic or likely pathogenic loss-of-function (LoF) variant in GRIN1, GRIN2A, GRIN2B, or GRIN2D * Parent(s), caregiver(s), or legally authorised representative(s) have been informed of the nature of the study and have provided written informed consent. * Participants who are able to do so have provided written informed consent or assent, according to local regulations and cognitive capacity. * Parent(s)/caregiver(s) are willing and able to comply with study procedures and visits, in the opinion of the investigator. * Participants who have previously received L-serine supplementation are willing to discontinue L-serine for at least one week prior to the baseline observation p |
| Ages | 2 Years to 30 Years |
| Sex | All |
| Lead sponsor | Meyer Children's Hospital IRCCS |
| Locations | Lyon, France; Florence, Italy; Warsaw, Poland |
| Start date | 2025-08-29 |
| NCT ID | NCT07377032 |
| Official listing | https://clinicaltrials.gov/study/NCT07377032 |