Effectiveness of L-serine for treating children with GRIN2B deficiency.

Phase 1

• Conditions: GRIN2B deficiency; MedDRA version: 20.0Level: HLGTClassification code 10027424Term: Metabolic and nutritional disorders congenitalSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2022-000241-32-NL
• Lead Sponsor: Amsterdam UMC

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2022-07-28
• Last Update Posted: 8 April 2024

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 6

Inclusion Criteria

1)The patient or the parent(s)/legal guardian(s) must provide written informed consent before start of the study;
2)Male and female patients with confirmed GRIN2B LoF mutation;
3) =18 years;
4)Able to travel to the study site.

Are the trial subjects under 18? yes
Number of subjects for this age range: 6
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 1
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1)Has taken L-serine supplement within 30 days prior to enrolment;
2)The patient has received another investigational product within 30 days prior to enrolment;
3)Known hypersensitivity reactions, intolerance or adverse reactions to L-serine or the inactive ingredients;
4)The patient is unwilling or, in the investigator’s opinion, unable to adhere to the requirements of the study;
5)The patient is unable to swallow powder and has no other enteral access (e.g. gastrostomy);
6)Any condition or abnormality which may, in the opinion of the investigator, compromise the safety of patients.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified