NEUROMUSCULAR DISEASES

This study tests an oral drug called SAT-3247 in 51 boys aged 7 to 10 with Duchenne muscular dystrophy (DMD). The goal is to see if it can improve muscle strength and function over 12 weeks. Participants will take the drug or a placebo on weekdays, and all will continue their usu…

This program provides access to an investigational drug, AOC 1044, for people with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping exon 44. It is for eligible patients aged 6 and older living in the US. The goal is to offer treatment while gath…

This study tests a single dose of a gene therapy called NTLA-2001 in 60 people with a rare inherited nerve disease (ATTRv-PN). The goal is to see if it can safely reduce harmful protein buildup and slow nerve damage compared to a placebo. Participants must have a confirmed diagno…

This study looks at how hard children with muscle or lung problems have to work to breathe. Researchers will use a small tube to measure breathing effort in 550 kids at Necker Hospital. The goal is to better understand these conditions and improve care.

This study tests a new imaging device called Electrical Impedance Tomography (EIT) that uses electrodes to create lung pictures without radiation. Researchers will compare EIT images to standard tests in children with chronic lung disease, neuromuscular disease, and healthy contr…

This study looks at whether a simple breathing test done at home can help doctors adjust nighttime breathing machines for people with neuromuscular diseases. About 25 adults who just started using a ventilator at night will take part. The goal is to see if the home test gives cle…

This study follows 20 people with a rare nerve disease called CMT4J for up to 2 years. Researchers will check participants once a year to see how the disease progresses. The goal is to learn more about the condition and find better ways to measure it in future studies.

This study is for people with certain types of hereditary spastic paraplegia (SPG4 or SPG5A). Researchers will collect medical information, blood samples, and genetic data to build a shared database. The goal is to better understand how the disease progresses and prepare for futu…

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 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…