Glut1 Deficiency Syndrome
Conditions
Brief summary
The purpose of this project is to study the efficacy of triheptanoin oil in patients with GLUT1 deficiency syndrome.
Detailed description
The primary objective of the study is: \- to evaluate the capacity of triheptanoïn to improve the condition of patients with GLUT1-DS The secondary objectives of the study are: * to confirm the short-term safety of triheptanoïn therapy in patients with GLUT1-DS * to evaluate the short-term effects of triheptanoïn treatment on motor function, autonomy, quality of life and clinical signs of patients with GLUT1-DS * to evaluate the effect of triheptanoïn on brain energy metabolism using non-invasive 31P-MRS spectroscopy after activation of the occipital cortex in order to measure the levels of high-energy phosphates (such as ATP and phosphocreatine)
Interventions
DRUGGLUT1 DS
Sponsors
Ultragenyx Pharmaceutical Inc
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Mutation in SLC2A1 gene * Age \> 3 years * Patient with history/frequency of seizures or movement disorders documented at least 3 months prior to the beginning of the study * Covered by french social security * Patients who freely agree to participate in this study and understand the nature, risks and benefits of this study and give their written informed consent. (In addition to the requirement for the consent of parents or the legal representative, adolescents can provide additional informed consent to participate in clinical trials)
Exclusion criteria
* Evidence of psychiatric disorder * Attendant neurological disorder * Comorbid medical condition that would render them unsuitable for the study, e.g. HIV, diabetes * Pregnant or parturient or lactating women * Unwillingness to be informed in case of abnormal MRI * Failure to give written informed consent * Unable to understand the protocol * Unable to participate to the whole study * Absence of signed informed consent * Persons deprived of their liberty by judicial or administrative decision * Person subject to an exclusion period for another research * Subjects with
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of paroxystic events | 6 months | The number of paroxystic events, in particular abnormal movements, will be collected during trihepatnoin treatment. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 6 minutes walk test | 6 months | — |
| 9 hole Peg board | 6 months | — |
| Clinical Global Impression Scales | 6 months | — |
| Schwab-England scale | 6 months | — |
| Safety | 6 months | Should the whole blood levels of propionylcarnitine increase above 8 μmol/l, the dose of triheptanoin will be reduced until the decrease of whole blood propionylcarnitine is below 8 μmol/l. Should an organic acid abnormality such as an excessive urinary excretion of propionate metabolites such as 3-hydroxypropionic, 2-methylcitric, propionylglycine, tiglylglycine and/or methylmalonic acid occur, the dose of triheptanoin will be reduced until normalization of the organic acid and acylcarnitine profile. If still abnormal, patient will be excluded from the study. For GI distress, the research dietitian will instruct the patient regarding taking the dose over a longer period of time (30 minutes). If GI distress persists, triheptanoin dose will be reduced by 50% and re-increased progressively as the problems resolve with the patients working closely with research dietitian until tolerance of the full dose is achieved. |
| Fatigue Severity Scale | 6 months | — |
| Fatigue Visual Scale | 6 months | — |
| Brain 31phosphorus magnetic resonance spectroscopy | 6 months | Ratio of Inorganic Phosphate (Pi) over Phosphocreatine during visual stimulation |
| Vineland Scale | 6 months | — |
Countries
France
Outcome results
None listed