Effectiveness of L-serine dietary supplementation in children with a GRIN2B loss-of-function mutation: n-of-1 series

Phase 3

Recruiting

Conditions: GRIN2B deficiency
10027424

Registration Number: NL-OMON51542

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

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) >=37 weeks, <=18 years
4) Able to travel to the study site.

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

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>PRPP (Perceive-Recall-Plan-Perform) assessment</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>• Goal Attainment Scaling (GAS)<br /><br>• If epilepsy: seizure control (seizure log book)<br /><br>• EEG<br /><br>• Sleep (sleep log book)<br /><br>• Irritability (Brief Irritability Test)<br /><br>• Bowel movement assessment (Bristol stool scale)<br /><br>• Language (MacArthur)<br /><br>• Quality of Life (PedsQL)</p><br>