View clinical trials related to GLUT1DS1.
Filter by:Glucose transporter deficiency syndrome type 1 (GLUT1DS) is a rare, genetically determined, neurometabolic disorder . It is estimated that about 90% of affected patients present various pathological gait patterns. Ataxic, spastic, ataxo-spastic, or dystonic walking are the main manifestations described to date. The kinematic gait analysis with inertial sensors represents a method that is easily applicable in clinical practice, with possible application in numerous neurological syndromes of the pediatric and adult age. Through the kinematic gait analysis, it will be possible to obtain an accurate characterization of the gait of patients with GLUT1DS. This will allow, in the first place, a better knowledge of locomotor parameters in this rare cohort of patients. Given that kinematic analysis through a wearable sensor is a method that can be easily integrated into daily clinical practice, the data obtained could become prognostic biomarkers and significant outcome measures of the disease (also in relation to possible improvements deriving from treatment with a ketogenic diet or in the context of future pharmacological trials).
Ketogenic dietary therapies (KDTs) are well-established, safe, non-pharmacologic treatments used for children and adults with drug-resistant epilepsy and other neurological disorders. Ketone bodies levels undergo a significant inter-individual and intra-individual variability and can be affected by several factors. This evidence suggests the need for personalized monitoring for diet optimization, especially at the beginning of the treatment but during whole follow-up. Possible variations in glycemia and ketone bodies' blood level according to different phases of menstrual cycle have not been systematically assessed yet, but this time window deserves special attention because of hormonal and metabolic related changes. We present the methodological protocol for a longitudinal, multicentric study aimed at searching for subtle changes in ketone bodies blood level during menstrual cycle in epileptic female patients undergoing a stable ketogenic diet. The study will be divided into two phases. The first one will be purely observational, aiming at the assessment of ketonemia during menstrual cycle. Whether this finding will be confirmed, a second phase of ketogenic diet therapy adjustment will be scheduled.
This study will provide a comprehensive assessment of long-term treatment with the ketogenic diet, a medical diet with high fat and low carbohydrate intake, focusing on safety and cardiovascular implications. We will assess patients with epilepsy or one of two rare metabolic diseases; glucose transporter type 1 deficiency syndrome (GLUT1 DS) or pyruvate dehydrogenase complex deficiency (PDHD).
This proposal is an investigator-initiated, single-site proof of concept trial. Five patients will undergo isovolemic hemodilution-red cell exchange (IHD- RBCx) with up to 10 units of red cell antigens (Rh group, Kell, Duffy, Kidd blood group antigens) matched normal donor red cells to replace a target of 70% of the patient's red cells with donor red cells. The procedure will be performed as an outpatient according to protocols established for sickle cell anemia patients. One of the investigators is an expert on RBCx and will oversee the transfusion. Subjects will be assessed before and after transfusion, and at two months post transfusion. Outcome measures include neurological exam, electroencephalography (EEG), neuropsychological testing, and biochemical assays.
This study investigates the effect of lactate infusion on epileptic discharges on EEG and seizure frequency in glucose transporter 1 deficiency syndrome (GLUT1DS) patients.
To explore triheptanoin (C7 oil) compatibility with the ketogenic diet by evaluating EEG, and seizure rate, glycemia and ketosis in proven G1D patients receiving a ketogenic diet.
Forty-five subjects receiving no dietary therapy with a proven G1D diagnosis will be enrolled. To evaluate the effect of C7 supplementation of a regular diet on a EEG activity in addition to IQ, language, working memory, processing speed, emotional and behavioral functioning, ataxia, and other neuropsychological and neurological performance indices in children and adults genetically diagnosed with G1D receiving a regular diet at enrollment.
To determine the maximum tolerated dose (MTD), as a percentage of calories consumed, of triheptanoin (C7 oil; C7) in a pediatric and adult patient population genetically diagnosed with glucose transporter type 1 deficiency disorder (G1D).