Spinal muscular atrophy, type II

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…

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 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 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 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 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 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 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…