Hereditary spastic paraplegia

This phase 3 trial tests a one-time gene therapy called MELPIDA for children with SPG50, a rare genetic disease that causes progressive paralysis and developmental delays. The study will give the treatment via a spinal injection to 24 children aged 4 months to 6 years and compare…

This study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…

This study tests a noninvasive spinal cord stimulation (tSCS) to improve walking and reduce muscle stiffness in 15 adults with hereditary spastic paraplegia (HSP), a rare nerve condition. Participants receive stimulation through skin electrodes on the lower back twice a week for …

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This study tests a 12-week supervised rehabilitation program for people with two rare genetic conditions that cause walking and balance problems (spastic ataxias). The program includes twice-weekly therapy sessions and once-weekly pool exercises. Researchers want to see if it red…

This study looks at how muscles grow and change in children with cerebral palsy (CP) by examining tiny samples from leg muscles. Researchers will compare these microscopic findings with muscle images and movement tests. The goal is to better understand why muscles in CP develop d…

This study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…

This study is creating a detailed registry of 500 people with hereditary spastic paraplegia (HSP), a rare disorder that causes progressive leg stiffness and weakness. Researchers will collect medical history, genetic data, and patient feedback over time to better understand how t…

This study aims to uncover the genetic causes of hereditary spastic paraplegia (HSP), a group of rare neurological diseases that cause progressive muscle stiffness and weakness. Researchers at Boston Children's Hospital will analyze DNA from 200 people with HSP to find genetic va…

This study is collecting health data and blood samples from 100 people with specific types of hereditary spastic paraplegia (SPG4 and SPG5A). The goal is to create a shared database and biobank to better understand how the disease progresses. This information will help prepare fo…

This study collects health information and biological samples from up to 700 people under 30 with early-onset hereditary spastic paraplegia (HSP). Researchers aim to better understand how the disease progresses over time and create a registry for future studies. Participants prov…

This study examines the role of the plantaris, a small calf muscle, in children having surgery for tight ankles (equinus). Researchers will randomly change the order of tendon cuts during surgery to measure how much each contributes to ankle movement. The goal is to understand if…

This study gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…

This study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…

This study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…