In glucose transporter 1 deficiency syndrome (GLUT1DS) cerebral glucose uptake from the systemic blood circulation is limited, because of deficient transport of glucose across the blood-brain barrier by the transporter protein (GLUT1). Classically patients present with developmental problems, movement disorders and severe epilepsy. There is no curative treatment for GLUT1DS, and anti-epileptic drugs usually have little to no effect.
Conditions
Interventions
Trade Name: sodiumlactate
Pharmaceutical Form: Powder for solution for infusion
Sponsors
None listed
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: - Diagnosed with GLUT1DS and known in our center. - Baseline characteristics include a high frequency of clinical seizures and epileptic discharges on EEG. - History of trying ketogenic diet with good compliance but without beneficial effects. - Age > 6 years. - Informed consent. Are the trial subjects under 18? yes Number of subjects for this age range: 4 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: - Additional medical condition or illness that impairs the patient’s ability to participate in the study (for example actual treatment of a malignancy, active infection, poorly controlled diabetes mellitus, hypertension, organ failure, clinically significant haematological or biochemical abnormalities). - Elevated serum sodium (> 145 mmol/L). - Participation in another interventional study at start of the study or during the study. - Presence of known panic disorders or a history of panic attacks.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The purpose of this explorative study is to investigate whether treatment with lactate has a positive effect on the drug-resistant epilepsy and EEG of patients with GLUT1DS. The primary objective is to assess changes in EEG during and shortly after infusion of lacate.;Secondary Objective: To assess any changes in seizure frequency during and shortly after infusion of lactate. To assess any change in laboratory parameters during infusion and shortly after: lactate, pH, sodium, bicarbonate, chloride, potassium, glucose ;Primary end point(s): Change in frequency or form of epileptic discharges on EEG during of shortly after infusion of sodiumlactate. The change in EEG will be measured by a neurologist experienced in reading EEG’s ;Timepoint(s) of evaluation of this end point: EEG will be continuously registered during the experiment. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Seizure frequency: Subjects will be recorded on video camera and seizures will be monitored and counted by researchers and parents/caregivers. Laboratory measures: All measurements will be performed in blood samples, and all samples will be analysed in laboratories of the Radboudumc. - lactate concentration - pH - glucose - sodium - potassium - chloride - bicarbonate ;Timepoint(s) of evaluation of this end point: Seizure frequency: Subjects will be monitored continuously during the experiment. Laboratory measures: T-60, T10, T20, T40, T60, T100, T120, T140, T200 and T240 minutes. Blood samples will be stopped earlier if all values have returned to baseline before the end of the experiment. | — |
Countries
Netherlands
Outcome results
None listed