NEUROMUSCULAR DISEASES

This program provides access to an experimental drug, AOC 1044, for people with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping exon 44. The goal is to help control the disease by allowing the body to produce a shorter but still functional dyst…

This study tests an oral drug called SAT-3247 in about 51 boys aged 7 to 10 with Duchenne muscular dystrophy (DMD). The goal is to find the best dose and see if it is safe and helps muscle strength. Participants will take the drug or a placebo for 12 weeks, and all will continue …

This study tests a single dose of NTLA-2001, a gene-editing therapy, in 60 adults with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a genetic disease that damages nerves. The goal is to see if the treatment can stop or slow the disease by lowering a harmfu…

This study tests a new device called pneuRIP that measures breathing without needles or tubes. It will be used on 20 children—10 healthy and 10 with mild breathing problems from muscle diseases. The goal is to see if the new monitor works as well as an existing one.

This study is testing a device called Electrical Impedance Tomography (EIT) that creates images of the lungs without using radiation. It will be used in children with chronic lung diseases, neuromuscular disorders, and healthy volunteers to see if it can provide useful informatio…

This study is collecting health information and blood samples from 100 people with two types of hereditary spastic paraplegia (SPG4 and SPG5A). The goal is to create a shared database and biobank to help researchers better understand the disease and prepare for future clinical tr…

This study tests a brain implant that lets people with locked-in syndrome control a computer using their thoughts. Two participants will have electrodes placed on their brain to try typing or selecting words. The goal is to see if they can use the system at home on their own.

This study tracks physical activity in people with neuromuscular diseases (like muscular dystrophy) and healthy volunteers. Participants wear a small button-like device on their thigh for one week every six months over three years. The goal is to understand activity patterns, not…

This study follows 20 people with a rare nerve disease called CMT4J to learn how the condition progresses. Participants of any age will be checked once a year for two years. The goal is to better understand the disease, not to test a treatment.

This study aims to better understand how hard it is for children with certain muscle, lung, or heart conditions to breathe. Researchers will use a thin tube to measure pressure in the chest and stomach in 550 children under 18. The goal is to learn more about breathing problems s…

This study looks at whether a simple breathing test done at home can tell doctors how well a nighttime breathing machine is working for people with neuromuscular diseases. About 25 adults who just started using a breathing machine at night will take part. The goal is to see if th…