Riboflavin transporter deficiency

This study planned to test whether injecting botulinum toxin (Botox) into the salivary glands could reduce drooling in people with true bulbar palsy, a condition that causes swallowing problems after a brain stem injury. The trial was designed to compare the injections against st…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Researchers are testing a muscle biopsy method that uses mild electrical stimulation to sample the junction where nerves meet muscle. The goal is to see if this technique helps distinguish between inclusion body myositis and motor neuron disease, which can look alike. The study i…

This study aims to find early markers of Parkinson's disease, multiple system atrophy, and Lewy body dementia by analyzing samples from the nose, blood, and urine. Researchers will compare results from 180 people with these conditions and healthy volunteers. The goal is to improv…

This study follows 1000 people with upper motor neuron disease who are about to receive the Cionic Neural Sleeve. The sleeve uses electrical stimulation to help muscles contract at the right time during movement. Researchers will track changes in health-related quality of life us…