Proximal spinal muscular atrophy

This phase 3 trial tested a one-time gene therapy called Zolgensma in 22 infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The treatment delivers a working copy of the missing SMN gene via an IV infusion. The main goals were …

This study tested a one-time gene replacement therapy in infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The main goal was to see if treated babies could sit without support for at least 10 seconds by 18 months of age. The …

This study tested a one-time gene replacement therapy in 33 infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The treatment aims to replace the missing SMN1 gene to improve muscle function. Key results showed that many babies…

This study tested a single dose of Zolgensma gene therapy in 30 infants diagnosed with spinal muscular atrophy (SMA) before symptoms appeared. The goal was to see if the treatment helps them reach motor milestones like sitting or standing alone. The therapy delivers a working cop…

This Phase 3 trial tested apitegromab, a drug that blocks a muscle-limiting protein, in 188 nonambulatory children and young adults with later-onset spinal muscular atrophy (SMA types 2 and 3). All participants were already taking standard SMA therapies (nusinersen or risdiplam).…

This study tested a one-time gene therapy called OAV101 in 126 children aged 2 to 18 with type 2 spinal muscular atrophy (SMA) who had never received other SMA treatments. The therapy was given as a spinal injection and compared to a sham procedure. The goal was to see if it coul…

This study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…

This study tests a special fabric shoulder brace designed to mimic muscle support for people with neuromuscular disorders like muscular dystrophy, SMA, and ALS. About 30 participants will wear the brace and perform arm tasks to see if it improves movement, strength, and daily fun…

This study tests a 12-week online program for mothers of infants (12-36 months old) with SMA Type 1. The program aims to teach mothers how to support their baby's development and improve their own knowledge. Thirteen mothers will take part, with 10 receiving the program and 3 rec…

This study tested an experimental drug called NMD670 in 52 adults with type 3 spinal muscular atrophy who can still walk. The goal was to see if the drug helps them walk farther in 6 minutes and improves muscle strength compared to a placebo. The trial is now complete, and result…

This study tested a portable knee training device in 13 children aged 6-12 with spinal muscular atrophy (SMA). The goal was to see if regular exercise with the device could improve leg muscle strength and function. Researchers measured muscle size, strength, and nerve activity ov…

This small pilot study tested whether a temporary spinal cord stimulator (like a pacemaker for the spine) could help people with spinal muscular atrophy types 3 and 4 move their legs better. Three adults who could stand independently received the implant for up to 29 days. The go…

This study looks at whether a French version of the SMAFRS questionnaire gives reliable results when used twice in adults with spinal muscular atrophy (SMA). About 60 participants will fill out the questionnaire during a routine visit and again 15 days later. No treatment is give…

This study looked at 67 adults with spinal muscular atrophy (SMA) types 2 and 3 to see if special electrical tests (MUNE and CMAP) can track nerve loss over time. The goal was to find better ways to measure how the disease changes, not to test a treatment. Participants had geneti…

This study looked back at 80 children with spinal muscular atrophy (SMA) types II and III to see how using braces (orthoses) helped them sit, stand, and walk. Researchers recorded when and how often children achieved these milestones and what types of braces they used. The goal w…

This study looked at the quality of supportive and palliative care for infants under one year old with spinal muscular atrophy (SMA) type 1, a severe genetic muscle disease. Researchers followed 39 infants and asked families to keep a diary about care. One year after the child's …