Rheopheresis as Adjuvant Treatment of Calciphylaxis
Metabolic DisorderEnd Stage Renal Disease1 moreWe propose to set up a prospective randomized controlled trial to control the security and assess the efficacy of adjuvant treatment by rheopheresis in necrotizing-ulcered calciphylaxis in the hemodialysis population.
Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity...
Sickle Cell DiseaseThalassemia3 moreThis is a Phase II study for the use of T-cell replete reduced intensity conditioning (RIC) haploidentical donor allogeneic hematopoietic cell transplantation (HaploHCT) for individuals with high-risk non-malignant diseases who lack a suitable HLA-matched sibling donor.
Acute Study of Anthocyanin-rich Bilberry and Polyphenol-rich Apple Extracts on Postprandial Glycaemic...
Glucose IntoleranceGlucose Metabolism DisordersStrategies to control chronic postprandial hyperglycaemia by optimizing the functionality of foods would strengthen efforts to reduce the risk of developing T2D in the general population. Polyphenolic constituents, may help to delay starch and disaccharide digestion and glucose absorption following a carbohydrate-containing meal or beverage. In vitro studies suggest that some berry anthocyanins and apple polyphenols are effective inhibitors of digestive enzymes, α-amylases and α-glucosidases. Furthermore, polyphenols found in berries and apples inhibit the action of intestinal glucose transporters. Human data is limited; however, randomized controlled trials (RCTs) have shown that berries and apple products reduced postprandial glucose concentrations following consumption of either starch, glucose or sucrose loads. The aim of this study is to test the hypothesis that consumption of a fruit bar containing anthocyanin-rich bilberry and polyphenol-rich apple extracts together with a starch and sucrose meal would reduce the postprandial glycemic response. This study is a randomized cross over study and will aim to recruit 24 overweight (BMI > 25.0), men or post-menopausal women, aged ≥40 and ≤ 70 years who will attend four study sessions. The first study session will be an oral glucose tolerance test (OGTT) and the remaining three will be identical in all respects except for the composition of the fruit bar. Consecutive blood samples will be collected in all 4 study sessions which will be used to measure glucose, insulin, C-peptide, incretins and lipids.
Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying...
DyslipidemiasHigh Cholesterol9 moreThis study will be a placebo-controlled, double-blind, randomized, phase 3 study to Evaluate the Efficacy, Safety, and Tolerability of Obicetrapib in Participants with a History of Heterozygous Familial Hypercholesterolemia (HeFH).
A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in...
Glycogen Storage Disease Type IAThe primary objectives of this study are to evaluate the efficacy of DTX401 to reduce or eliminate dependence on exogenous glucose replacement therapy to maintain euglycemia and to maintain or improve the quality of glucose control.
Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
GLUT1DS1Epilepsy6 moreForty-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.
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant...
Primary Immune Deficiency DisordersHemophagocytic Lymphohistiocytosis3 moreThe purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass...
Neonatal ScreeningLysosomal Storage DiseasesThe study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target. The primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).
Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic...
Inherited Metabolic Disorder of Nervous SystemSchizophreniaScreening for sulfur amino acid metabolism pathologies using a sulfitest in adult patients with psychotic disorder.
Oxidative Stress, Carbohydrate Metabolism Disorders and G6PD Deficiency
G6PD DeficiencyCarbohydrate Metabolism Disorder1 moreThe purpose of this study is to investigate the effects of alpha-lipoic acid supplementation on redox status, physiological and biochemical parameters in diabetic individuals with G6PD deficiency, after acute exercise.