GRIN2B deficiency MedDRA version: 20.0 Level: HLGT Classification code 10027424 Term: Metabolic and nutritional disorders congenital System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Trade Name: L-serine
Product Name: L-Serine
Product Code: S0718
Pharmaceutical Form: Capsule
INN or Proposed INN: SER
CAS Number: 56-45-1
Current Sponsor code: L-SERINE
Other descriptive name: SERINE
Sponsors
Amsterdam UMC
Eligibility
Sex/Gender
All
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Assess the potential efficay of L-serine dietary supplementation in patients children with a GRIN2B LoS mutation.;Secondary Objective: Not applicable;Primary end point(s): Effect of L-serine on developmental skills using the PRPP (Perceive-Recall-Plan- Perform) assessment in patients with GRIN2B LoF mutation.;Timepoint(s) of evaluation of this end point: End of (interventional) periods | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): • Effect of L-serine on functional / developmental outcomes using the Goal Attainment Scaling (GAS) in patients with GRIN2B LoF mutation; • If epilepsy: Effect of L-serine on seizure control using a seizure log book in patients with GRIN2B LoF mutation; • Effect of L-serine on sleep outcome using a sleep log book in patients with GRIN2B LoF mutation; • Effect of L-serine on irritability using the Brief Irritability Test (BIT) in patients with GRIN2B LoF mutation; • Effect of L-serine on language using the MacArthur in patients with GRIN2B LoF mutation; • Effect of L-serine on bowel movement using the Bristol Stool Scale in patients with GRIN2B LoF mutation; • Effect of L-serine on quality of live using the PedsQL in patients with GRIN2B LoF mutation. ;Timepoint(s) of evaluation of this end point: End of (interventional) periods | — |
Countries
Netherlands
Contacts
Public ContactEmma Children's Hospital
Amsterdam UMC, location AMC
Outcome results
None listed