GRIN2B deficiency
Conditions
Interventions
Each patient receives multiple blocks consisting of 4 time daily L-serine (500
mg/kg/day) alternated with placebo and washout periods.
Sponsors
Academisch Medisch Centrum
Eligibility
Age
No minimum to 64 Years
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) >=37 weeks,
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 |
|---|---|
| PRPP (Perceive-Recall-Plan-Perform) assessment | — |
Secondary
| Measure | Time frame |
|---|---|
| • Goal Attainment Scaling (GAS) • If epilepsy: seizure control (seizure log book) • EEG • Sleep (sleep log book) • Irritability (Brief Irritability Test) • Bowel movement assessment (Bristol stool scale) • Language (MacArthur) • Quality of Life (PedsQL) | — |
Countries
Netherlands
Outcome results
None listed