Congenital myopathy

This study tests an oral drug called glycerol tributyrate in 24 adults with MELAS or LHON-Plus, two rare mitochondrial diseases that cause severe symptoms like strokes and vision loss. The trial is open-label (everyone gets the drug) and uses each person as their own control over…

This study tests whether a person's own stem cells, processed and given by IV, can safely help with multiple system atrophy (MSA) — a rare, worsening brain disease that affects movement and automatic body functions like blood pressure. Fifty adults aged 35 to 65 will receive eith…

This study tests whether inhaled salbutamol, a drug used for asthma, can reduce breathing distress in newborns with transient tachypnea of the newborn (TTN). TTN is a common lung condition after birth where fluid stays in the lungs, causing fast breathing. The trial will enroll j…

This study looks at people aged 65 and older who have signs of brain blood vessel disease on a past scan but no history of stroke, dementia, or other major brain conditions. Researchers will collect information on daily function, thinking skills, speech, and any new vascular even…

This study follows up to 10 people of any age with nemaline myopathy, a rare muscle disease, for three years. Researchers will collect information during regular hospital visits to understand how the disease changes over time. The goal is to find better ways to measure disease pr…