Drug resistant epilepsy patients with proved Vitamin D deficiency (Serum vitamin D level <30ng/ml) Cholecalciferol. 5 doses of cholecalciferol (100 000 IU) in 3 months than 1 dose of cholecalciferol (100 000 IU) per month during 6 months

Drug resistant epilepsy patients with proved Vitamin D deficiency (Serum vitamin D level<30ng/ml) Placebo than cholecalciferol. 5 doses of placebo in 3 months than 5 doses of cholecalciferol (100 000 IU) in 3 months than 1 dose of cholecalciferol (100 000 IU) per month during 3 months.

Drug Resistant Epilepsy

Cholecalciferol

Placebo Oral

Vitamine D in Drug Resistant Epilepsy

Effect of the Treatment of Vitamin D Deficiency in Drug-resistant Epilepsy

Total score at baseline and after Vitamin D treatment (range 0-200; higher values=worse outcome)

Total score at baseline and after Vitamin D treatment (range 0-42; higher values=worse outcome)

Global score at baseline and after Vitamin D treatment (the higher score, the better outcome)

Vitamin D levels and percentage reduction in the seizure frequency compared to the reference period

Vitamin D level and type of AED (enzyme inducer versus non enzyme inducer drugs)

Vitamin D level and dose of AED (low dose versus high dose of enzyme inducer drugs)

Responder rate after Vitamin D treatment. Percentage of patients having a reduction of at least 50% of the seizure frequency

Percentage of patients without any seizure (seizure freedom)

Responder rate in focal and generalized epilepsy

Percentage of reduction of secondary generalized seizures and epileptic falls in respect to the reference period

Centre Hospitalier St Anne

APHP

FFRE

LFCE

Patients with a Cystinosis disease or high-grade suspicion for Cystinosis disease

For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 7,5 ml of blood will be taken via using a dry blood spot filter card. To proof the correct Cystinosis diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Cystinosis disease will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Renal Fanconi Syndrome

Photophobia

Hypophosphatemia

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

The goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.

Centogene AG Rostock

Empagliflozin (Jardiance™) 25mg once daily (orally)

Empagliflozin (Jardiance™) 25mg once daily (orally) + energy restriction diet

Placebo once daily (orally) + energy restriction diet

Diabetes Mellitus, Type 2

25mg once daily to be taken orally for the duration of the study (24 weeks)

Empagliflozin

Daily energy restriction diet to be followed for the duration of the study (24 weeks)

Diet

Placebo once daily for the duration of the study (24 weeks)

Placebo

Leicester Diabetes Centre

SGLT-2 Inhibitor Empagliflozin Effects on Appetite and Weight Regulation.

SGLT-2 Inhibitor Empagliflozin Effects on Appetite and Weight Regulation: A Randomised Double-blind Placebo-controlled Trial (The SEESAW Study)

The effect of Empagliflozin on appetite hormone 'Total PYY' concentration between baseline and 24 weeks. Measured by sequential blood sampling at study visits 1-5.

Change in appetite hormone 'Ghrelin' concentration from baseline to 24 weeks. Measured by blood sampling at study visits 1-5.

Change in appetite hormone 'GLP-1' concentration from baseline to 24 weeks. Measured by blood sampling at study visits 1-5.

Change in appetite perceptions from baseline to 24 weeks. Measured by questionnaires visits 1 -5.

Change in weight (kg) from baseline to study end and between groups. This will be measured at visits 1 - 5.

Change in body composition from baseline to study end and between groups. This will be measured by Dual Energy X-Ray Absorptiometry (DEXA) scanning at visits 1 and 5.

Change in resting energy expenditure from baseline to study end and between groups. This will be measured by indirect calorimetry at visits 1-5.

Change in physical activity from baseline to study end and between groups. This will be measured using physical activity monitors at visits 0, 3, 4 and 5.

Change in physical activity from baseline to study end and between groups. This will be measured using the international physical activity questionnaire at visits 1 - 5.

Change in urine glucose excretion to study end and between groups. This will be measured using urine sampling at visits 1-5.

Change in in baseline blood appetite hormones to 24 weeks between groups. This will be measured using blood sampling at visits 1-5.

Change in in baseline HbA1c to 24 weeks between groups. This will be measured using blood sampling at visits 1-5.

Change in in baseline inflammatory markers to 24 weeks between groups. This will be measured using blood sampling at visits 1-5.

Change in in baseline renal functioning to 24 weeks between groups. This will be measured using blood sampling at visits 1-5.

Change in in baseline liver functioning to 24 weeks between groups. This will be measured using blood sampling at visits 1-5.

University of Leicester

Loughborough University

University Hospitals, Leicester

Healthy subjects without symptoms of dysautonomia.

Fainting due to sudden drop in blood pressure.

Sudden decrease in blood pressure while standing.

Dysautonomia

Wake Forest University Baptist Medical Center

MRI to Assess the Effects of Dysautonomia and Chronic Nausea on Brain Transmitters

Study Title: Brain Transmitters/Metabolites, Magnetic Resonance Spectroscopy, and Brain Connectivity: Diagnostic Strategies to Study the Effects of Non-Pharmacologic Therapies for Dysautonomia and Chronic Nausea

The first objective of the proposed project is to study central transmitter/metabolite profiles using in vivo 1H Magnetic Resonance Spectroscopy (MRS) in children with dysautonomia diagnosed by tilt table testing compared to healthy children without symptoms of dysautonomia. The second objective will be to determine whether dysautonomia associated with nausea and cardiovascular instability shares common alterations in brain networks. We will be using cognitive and sensory processing tasks based on our prior experience with both traditional fMRI and network analyses.

polydipsia/fatigue

Vitamine D in Drug Resistant Epilepsy

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

SGLT-2 Inhibitor Empagliflozin Effects on Appetite and Weight Regulation.

MRI to Assess the Effects of Dysautonomia and Chronic Nausea on Brain Transmitters

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