Spinal muscular atrophy

This study is testing the drug risdiplam in newborn babies with spinal muscular atrophy (SMA), a serious muscle-weakening disease. The goal is to see how the drug moves through the body and if it is safe for infants under 20 days old. Ten babies will take part, and researchers wi…

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 (Zolgensma) in 27 children aged 2 to 18 with spinal muscular atrophy (SMA) who had previously stopped taking other SMA medications (Spinraza or Evrysdi). The goal was to see if the treatment is safe and can help maintain or …

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 a drug called nusinersen (Spinraza) in 25 infants who have a genetic diagnosis of spinal muscular atrophy (SMA) but no symptoms yet. The drug is given through a spinal injection to help delay or prevent the need for breathing support or early death. The goal was…

This study tested the drug nusinersen (Spinraza) in 46 children under 3 years old with spinal muscular atrophy (SMA) who had previously received gene therapy but still had health challenges. The goal was to see if adding nusinersen could improve their muscle and movement abilitie…

This study tested the safety and drug levels of risdiplam, a daily oral medication, in 174 adults and children with spinal muscular atrophy (SMA). Participants had previously received other SMA treatments. The main goals were to check for side effects and measure how the drug mov…

This completed study looked at how well a camera test called FEES (flexible endoscopic evaluation of swallowing) can detect and track swallowing problems in people with spinal muscular atrophy (SMA). Researchers studied 79 SMA patients of different types and ages, using several s…

Researchers tested an artificial intelligence program that analyzes retinal images to diagnose several nerve and brain conditions, such as optic neuropathy and brain tumors. The study used data from 693 patients with confirmed diagnoses. The goal is to create a fast triage tool f…

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 study tested whether virtual reality (using Xbox Kinect) or biofeedback training could improve motor function and balance in 24 children with neuromuscular diseases like Duchenne muscular dystrophy and spinal muscular atrophy. Participants were split into three groups: VR tr…

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 completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study explores whether digital tools on a tablet can measure changes in speech and handwriting in people with motor neuron diseases like ALS. Participants complete a single session of speaking and tracing tasks. Researchers compare results between patients and healthy contro…

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 completed study looked at how muscle oxygen levels change during exercise in people with various neuromuscular diseases compared to healthy volunteers. Seventeen participants did a knee-extension exercise while a device measured muscle oxygen. The goal was to understand diff…

This study tested whether home automation and remote monitoring can help elderly people (65+) with multiple chronic conditions live safely at home. Over 500 participants had their homes equipped with sensors that tracked health signs and sent alerts to doctors. The main goal was …

This study analyzed medical records of 213 children with spinal muscular atrophy (SMA) in the Czech and Slovak Republics. Researchers looked at what treatments were used and how the children's motor skills, breathing, and feeding changed over time. The goal was to understand real…

This study aimed to translate and validate an Italian version of a tool that helps speech therapists assess swallowing difficulties (dysphagia) in people with neurodegenerative diseases like Parkinson's or ALS. Researchers tested the tool on 101 adults with such conditions to ens…

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 at 18 adults with spinal muscular atrophy (SMA) who had taken the oral medication risdiplam for at least one year. Researchers measured how well nerves and muscles communicate by using electrical stimulation tests. The goal was to see if risdiplam improves these…

This study analyzed health records of nearly 5,000 people with spinal muscular atrophy (SMA) to see how well three approved treatments work in everyday medical practice. Researchers looked at complications, medical equipment use, and hospital visits before and after starting each…

This completed study looked at how different types of brain damage—from strokes, tumors, infections, or degenerative diseases—affect thinking and memory. Researchers used brain scans (MRI) and cognitive tests in 346 patients and healthy volunteers to map which brain areas are res…

This study analyzed insurance claims from over 4,000 people with spinal muscular atrophy to see how three approved treatments (Zolgensma, Spinraza, and Evrysdi) are actually used in daily practice and what they cost over time. Researchers looked at dosing patterns, yearly drug co…

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 completed study looked at why people with spinal muscular atrophy (SMA) often feel very tired and have trouble exercising. Researchers tested 34 ambulatory SMA patients who were already on standard treatments (risdiplam or nusinersen) for at least six months. Participants di…

This completed study looked at whether it is practical and acceptable to screen all newborns for spinal muscular atrophy (SMA), a rare genetic disease that causes muscle weakness and can be fatal if not treated early. Over 33,000 babies were screened using a simple blood spot tes…

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 …