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Tolerability and Efficacy of L-Serine in Patients With GRIN-related Encephalopathy

NCT04646447 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 20

Last updated 2020-11-30

No results posted yet for this study

Summary

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.

Conditions

  • GRIN Related Disorders

Interventions

DIETARY_SUPPLEMENT

L-serine

L-Serine Arm L-serine is considered as GRAS (generally recognized as safe) by the FDA and has been approved as a normal food additive under CFR172.320. All patients will receive the same L-serine dose treatment over 12 months. Arm: Experimental: L-Serine 250 mg / kg / day during the first two weeks. From week 3 to 52, 500 mg / kg / day. L-serine orally administered, divided into three doses a day. The L-Serine will be manufactured, packaged, labeled and/or distributed by NUTRICIA or delegated contractors. It will be presented in a powdered form of 100 gr of the amino acid L-serine. For oral use. Sufficient L-serine will be dispensed at home considering the dose according the weight of the patient.

Sponsors & Collaborators

  • Hospital Sant Joan de Deu

    collaborator OTHER

  • Fundació Sant Joan de Déu

    lead OTHER

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-07-30
Primary Completion
2021-08-31
Completion
2022-05-31

Countries

  • Spain

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04646447 on ClinicalTrials.gov