GRIN-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 (Orphanet entries: 178469, 289266, 101685, for GRIN1, GRIN2A and GRIN2B, respectively). Mutations leading to glutamatergic hypotransmission can be potentially treated with L-Serine leading to significant clinical benefits in patients according to a pilot study published by our group (Soto et al, 2019). In our 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.
Age range
2 Years – 18 Years
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Number of participants with any adverse event
Timeframe: up to 12 months
Change in mental age with Vineland Adaptive Behavior Scales (VABS) (Vineland-3)
Timeframe: Baseline (approximately 3 months prior to intervention), 0 months (start treatment) and 3, 6 and 12 months post intervention
Change in bayley Scales of Infant and Toddler Development (BSID)
Timeframe: Baseline (approximately 3 months prior to intervention), 0 months (start treatment) and 3, 6 and 12 months post intervention
Efficiency of the treatment measured by change in the cognitive assessment (Wechsler Intelligence Scale.
Timeframe: Baseline (approximately 3 months prior to intervention), 0 months (start treatment) and 3, 6 and 12 months post intervention
Change in the Achenbach System of Empirically Based Assessment (ASEBA) System of Empirically Based Assessment (ASEBA)+
Timeframe: Baseline (approximately 3 months prior to intervention), 0 months (start treatment) and 3, 6 and 12 months post intervention
Change in Gross Motor Function Measure-88
Timeframe: -3 months, 0 months (start treatment), 3 months, 6 months, 12 months
Angels García Cazorla, MD, PHD
Change in Social Communication Questionnaire (SCQ)
Timeframe: Baseline (approximately 3 months prior to intervention), 0 months (start treatment) and 3, 6 and 12 months post intervention
Change in the Sleep Disturbance Scale for Children (SDSC)
Timeframe: Baseline (approximately 3 months prior to intervention), 0 months (start treatment) and 3, 6 and 12 months post intervention