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Thyroid hormone analog therapy of patients with severe psychomotor retardation caused by mutations in the MCT8 thyroid hormone transporter: The Triac Trial.

1. Normalization of the abnormal serum TH parameters and thereby improving the clinical condition of the AHDS patients2. Observation of changes in cognitive and motor function.

A Phase 4 Randomised, Double-Blind, Placebo-Controlled, Parallel-Group, Multi-Centre Study of Colesevelam as Add-on Therapy in Patients with Familial Hypercholesterolaemia.

This study is being conducted in patients with familial hypercholesterolaemia (FH) to:1. Assess the efficacy of colesevelam added to a maximal tolerated and stable regimen of statin and ezetimibe in further decreasing the low-density lipoprotein (…

The physiology of glucagon-like peptide-1 receptor expression in patients with endogenous hyperinsulinism: correlation with histopathology

The main study aim is the in vivo and ex vivo investigation of the expression and distribution of the GLP-1R in the pancreas of children (< 16 years) with proven endogenous congenital hyperinsulinism who qualify for surgery based on response…

A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Reducing Supraphysiologic Glucocorticoid Use in Adult Subjects with Classic Congenital Adrenal Hyperplasia

This study has been transitioned to CTIS with ID 2023-503771-13-00 check the CTIS register for the current data. The purpose of this study is to see if tildacerfont can reduce the amount of GC (e.g., hydrocortisone) you need to take and reduce the…

A Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Adult Subjects with Classic Congenital Adrenal Hyperplasia

The primary purpose of this study is to assess the dose response of several doses of tildacerfont in controlling hormone levels and reducing testicular tumors over 12 weeks by comparing the tildacerfont hormonal control response to a placebo, a *…

The physiology of glucagon-like peptide-l receptor expression in patients with endogenous hyperinsulinism: correlation with histopathology

The main study aim is the in vivo and ex vivo investigation of the expression and distribution of the GLP-1R in the pancreas of children (< 16 years) with proven endogenous congenital hyperinsulinism who qualify forsurgery based on response…