Disorder of glycogen metabolism

This study tests the long-term safety and effectiveness of an experimental oral drug called S-606001 in adults with late-onset Pompe disease, a genetic condition that causes progressive muscle weakness. Participants who completed a prior S-606001 study can join, and they will rec…

This trial tests an investigational medicine called ATR 1072 in adults with PRKAG2 syndrome, a genetic condition that causes abnormal heart muscle thickening and rhythm problems. The drug is designed to reduce the activity of the faulty PRKAG2 gene. Researchers are evaluating its…

This study looks at whether diazoxide, a drug that reduces insulin release, can help children with type 1 glycogenosis maintain steadier blood sugar levels. Type 1 glycogenosis is a rare inherited condition where the body cannot properly release glucose from stored glycogen, lead…

This study looks at whether eating a breakfast with two types of carbohydrates (glucose and fructose) can increase glycogen stored in the liver. Twelve healthy male athletes will be tested after different breakfasts using MRI scans and blood samples. The goal is to learn the best…

This study tests whether a drink made from broccoli sprouts can improve how well endurance athletes perform and recover after cycling. Thirty healthy adults who exercise regularly will drink either the broccoli sprout drink or a placebo at different times before a cycling test. R…