Hereditary neuromuscular disease

This study tested a gene transfer treatment for giant axonal neuropathy (GAN), a rare genetic disease that damages nerves and affects movement, breathing, and other functions. Fourteen people aged 3 and older received a single injection of the treatment into the fluid around the …

This study tested an experimental drug called SPI-1005 (ebselen) in 254 adults with Meniere's disease, a condition causing hearing loss, ringing in the ears, and dizziness. Participants received either the drug or a placebo for a set period, followed by an open-label phase where …

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 study tests an experimental drug called AT-007 (Govorestat) in 56 adults with SORD deficiency, a rare genetic condition that causes nerve damage and muscle weakness. The drug aims to lower high levels of sorbitol, a sugar that builds up and harms nerves. Researchers will mea…

This early-stage trial tested a combination of two oral drugs, tipifarnib and alpelisib, in 45 adults with recurrent or metastatic head and neck squamous cell carcinoma that has specific genetic changes (HRAS overexpression or PIK3CA mutations). The goal was to find a safe dose a…

This study tested the drug patisiran in 10 adults with a rare condition called ATTR amyloidosis that causes nerve damage. Participants received an IV infusion every 21 days for 24 months. Researchers measured changes in nerve function, autonomic symptoms, and quality of life to s…

This study tested an oral drug called AZ-3102 in 13 people with GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) or Niemann-Pick type C disease. The main goal was to check safety and how the drug moves through the body over 12 weeks. It was a randomized, double-blind, placebo-c…

This study tested whether a nerve block called stellate ganglion block can improve swallowing in people with bulbar palsy after an ischemic stroke. 124 participants were randomly assigned to receive either standard rehabilitation alone or standard rehabilitation plus the nerve bl…

This study tested a new medicine called AOC 1020 in 90 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes muscle weakness. The goal was to check if the drug is safe and how the body processes it. Participants received either the drug or a p…

This study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…

This study followed 24 people with metachromatic leukodystrophy (MLD), a rare and serious brain disease, who were already receiving an experimental drug called HGT-1110. The main goal was to check for side effects and immune reactions over a long period. Researchers wanted to see…

This study tested the drug D-cycloserine in a single patient with a rare genetic form of hereditary spastic paraplegia. The goal was to see if the drug is safe and can slow the disease by lowering certain fats (sphingolipids) in the body. The patient also took pyridoxine to help …

This phase 3 trial tested the drug patisiran in 360 people with ATTR amyloidosis with cardiomyopathy, a condition where abnormal protein builds up in the heart, making it stiff and weak. Participants received either patisiran or a placebo intravenously. The study measured how far…

This trial tested a custom-made drug called nL-TARD-001 in one person with ALS caused by a specific genetic mutation in TARDBP. The drug is an antisense oligonucleotide designed to target the faulty gene. The study measured changes in muscle function, breathing, and thinking over…

This study tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

This study tested an experimental drug called METAZYM (a lab-made enzyme) in one child with late infantile metachromatic leukodystrophy (MLD) who had already received a stem cell transplant. The goal was to see if the enzyme could improve nerve function and reduce harmful buildup…

This study tested an oral drug called ifetroban in 46 males aged 7 and older with Duchenne muscular dystrophy (DMD). The goal was to see if the drug is safe and can help prevent or treat heart problems, which are a leading cause of death in DMD. Participants received either ifetr…

This study tested a gene therapy called OTL-200 in 10 children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. The treatment uses the child's own blood stem cells, modified to produce a missing enzyme, and aims to slow or stop disease progres…

This study looked at whether giving a steroid called prednisone twice a week at a lower dose, along with exercise training, could help boys with Duchenne muscular dystrophy (DMD) maintain muscle strength and function. The goal was to find a treatment that works as well as daily s…

This study tested a new drug called AOC 1001 in 39 adults with myotonic dystrophy type 1, a genetic muscle disorder. Participants received either the drug or a placebo by IV infusion. The goal was to check safety and how the drug moves through the body. Results will help decide i…

This study tested the safety of a drug called ataluren (also known as Translarna) in 270 people with Duchenne muscular dystrophy caused by a specific type of genetic mistake (nonsense mutation). Participants had already taken ataluren in earlier studies. The goal was to monitor s…

This study tested a drug called ataluren in 360 boys with Duchenne muscular dystrophy caused by a specific genetic mistake (nonsense mutation). The main goal was to see if ataluren could help them walk farther over 72 weeks compared to a placebo. All participants were also taking…

This study tested a gene therapy for children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. Five children aged 6 months to 5 years received injections of a harmless virus carrying a working copy of the ARSA gene directly into their brains. …

This early-stage study tested a new drug called ALN-TTRSC04 in 96 healthy people to see if it is safe and how the body processes it. The drug aims to lower a harmful protein that causes transthyretin amyloidosis, a serious disease affecting nerves and the heart. Participants rece…

This early-phase study tested a new gene editing treatment called HG302 in 4 boys with Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease. The therapy uses CRISPR technology to fix the genetic error and help muscles produce dystrophin, a protein essential for musc…

This early-stage trial tested a single dose of the drug PGN-EDODM1 in 24 adults with myotonic dystrophy type 1, a genetic muscle disorder. The main goal was to check safety and how the body handles the drug. The study is complete, but results are not yet available.

This early-stage trial tests NTLA-2001, a CRISPR-based gene editing therapy, in 72 adults with hereditary ATTR amyloidosis—a condition where abnormal protein builds up in nerves or the heart. The treatment aims to turn off the faulty gene to reduce protein levels. The study focus…

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 alpelisib combined with hormone therapy (fulvestrant or letrozole) in 383 people with advanced breast cancer that has a specific genetic change (PIK3CA mutation). The goal was to see how many patients were alive without their cancer getting worse a…

This study tested a new drug called vutrisiran in 164 people with a rare inherited disease that damages nerves and organs. Participants received either vutrisiran as a shot every 3 months or the standard treatment patisiran as an IV infusion every 3 weeks. The goal was to see if …

This phase 2 trial tested a combination of two oral drugs, RMC-4630 and sotorasib, in 47 adults with advanced KRASG12C-mutant non-small cell lung cancer that had progressed after standard treatments. The goal was to see if the combination could shrink tumors. The study is now com…

This completed early trial tested a single intravenous dose of EN001 stem cells in 3 adults with Charcot-Marie-Tooth disease type 1E, a severe hereditary nerve disorder with no approved treatment. The main goal was to check safety, including infusion reactions, while also looking…

This study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…

This study tested a gene therapy for children with metachromatic leukodystrophy (MLD), a rare, inherited brain disease that causes severe disability and early death. The treatment uses the child's own blood stem cells, which are modified in a lab to carry a working copy of the mi…

This study tested whether a personalized diet could improve nutrition and movement in children aged 4-8 with Duchenne muscular dystrophy (DMD). Nine children in Ankara, Turkey, received dietary counseling focused on energy, protein, calcium, and fluid needs. Researchers measured …

This study tested two drugs, casimersen and golodirsen, in 228 boys with Duchenne muscular dystrophy who have specific genetic mutations. The goal was to see if these drugs could slow muscle decline, measured by how fast they could climb four steps. Participants received either t…

This study tested a drug called vamorolone in 54 boys with Duchenne muscular dystrophy, aged 2 to under 4 years and 7 to under 18 years. The goal was to check safety and how the body processes the drug over 12 weeks. Researchers hope vamorolone may help control the disease with f…

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 early-phase trial tested the safety of a gene therapy called Engensis (VM202) in 12 adults with Charcot-Marie-Tooth disease type 1A (CMT1A), a genetic nerve disorder that causes muscle weakness. Participants received multiple injections into their leg muscles and were monito…

This study tested a drug called tideglusib against a placebo in 56 children aged 6 to 16 with congenital myotonic dystrophy, a rare genetic muscle disorder. The goal was to see if tideglusib could reduce symptoms like muscle weakness and breathing problems. The trial was complete…

This study tested a drug called troriluzole in 141 adults with spinocerebellar ataxia, a rare disease that affects balance and coordination. Participants took either the drug or a placebo daily for 8 weeks. The main goal was to see if troriluzole could improve symptoms like walki…

This study is a follow-up to an earlier trial, testing the long-term safety and effects of a drug called AOC 1001 in adults with myotonic dystrophy type 1 (DM1), a genetic muscle disease. 37 participants who completed the first study received multiple doses of AOC 1001 by IV infu…

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 phase 2 trial tested vamorolone, a drug similar to steroids, against a placebo in 46 males with Becker muscular dystrophy. The goal was to check safety and tolerability over 24 weeks, while also looking for early signs of benefit. The study is complete, but results are not y…

This phase 2 study tested the safety and effectiveness of tideglusib, an experimental drug, in 16 adolescents and adults with congenital or juvenile-onset myotonic dystrophy type 1. Participants received either 400 mg or 1000 mg of tideglusib daily. The study measured side effect…

This early-stage trial tested a single-dose gene therapy called scAAV9.U7.ACCA in 3 boys with Duchenne muscular dystrophy caused by a duplication of exon 2. The therapy was given through a vein and aimed to help muscle cells produce dystrophin, a protein missing in this disease. …

This phase 2 trial tested three drugs—Xenbilox, Tahor, and resveratrol—in 12 adults with SPG5, a rare genetic condition causing progressive leg weakness. The goal was to lower levels of a toxic cholesterol byproduct called 27-hydroxycholesterol. Each drug was taken for 2 months, …

This study tested a wearable device that tracks eye movements during dizzy spells to help doctors tell apart three common inner-ear conditions: Ménière's disease, vestibular migraine, and BPPV. Four adults wore the device for 30 days to capture data. The goal was to develop a com…

This study tested a new MRI technique to detect endolymphatic hydrops (fluid buildup) in the inner ear of people with Meniere's disease. The new method uses a special 3D FLAIR sequence without contrast dye, compared to the standard method that requires an injection. The goal was …

This study tested a new genetic screening approach to find cases of a rare inherited nerve disease called TTR-FAP in 130 patients with chronic neuropathy of unknown cause. The goal was to see how many of these patients actually have TTR-FAP, which is often missed due to varied sy…

This completed pilot study tested whether a computer algorithm could diagnose facioscapulohumeral muscular dystrophy (FSHMD) by analyzing video recordings of people's faces. Researchers recorded 17 participants, including patients with FSHMD, other muscle diseases, and healthy co…

This study tested whether a special PET/MR scan using a radioactive tracer called F-18 florbetapir can detect amyloid protein buildup in the nerves of people with amyloidosis. Eight adults with confirmed nerve amyloidosis or other nerve diseases took part. The goal was to see if …

This study compared different ways to detect early nerve damage in people with hereditary TTR amyloidosis, a condition that can cause progressive nerve problems. Researchers used blood tests, skin imaging, and standard nerve exams in 47 participants. The goal was to see which too…

This study tested whether ultrasound can accurately diagnose mild to moderate carpal tunnel syndrome (CTS) by measuring the median nerve. Researchers compared ultrasound results with standard nerve tests and checked how they related to pain, symptoms, and quality of life in 75 pe…

This study tested a new blood test (liquid biopsy) that looks for cancer DNA in the blood of 30 women with advanced ER+/HER2- breast cancer. The goal was to see if the test can accurately find cancer mutations without needing a traditional tissue biopsy. The results will help doc…

This study tested whether a special eye-tracking device (video-oculography) helps emergency room doctors more accurately diagnose the cause of vertigo or dizziness. About 130 adults with dizziness were randomly assigned to get either the eye-tracking test plus standard care, or s…

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…

This study tested whether ultrasound of the nerves can help diagnose CANVAS, a rare genetic disorder that causes balance problems, nerve damage, and dizziness. Researchers measured nerve size in 35 people with confirmed CANVAS and compared them to healthy individuals. The goal wa…

This pilot study tested whether a radioactive tracer called F-18 florbetapir (Amyvid) can detect amyloid protein buildup in the heart using a PET scan. Researchers enrolled 23 people with known cardiac amyloidosis and a control group without the condition. The goal was to see if …

This study tested whether a special forehead thermometer called SpotOn can accurately measure core body temperature in children during surgery. Researchers enrolled 70 children aged 1 day to 16 years having elective surgery. The goal was to see if this non-invasive sensor could r…

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

This study looked at 46 people with carpal tunnel syndrome to see how ultrasound measurements of the median nerve relate to their symptoms and nerve test results. Researchers measured nerve size and appearance at different points in the wrist and compared them to pain scores and …

This study tested whether nebivolol, a beta-blocker heart drug, could prevent heart failure in 51 boys aged 10-15 with Duchenne muscular dystrophy. Participants had normal heart function at the start and were randomly given either nebivolol or a placebo. The trial found that nebi…

This study tests whether a wheelchair-mounted robotic arm called Jaco helps people with tetraplegia perform daily tasks like grasping and reaching at home. Participants use the device for two months after training. Researchers measure changes in performance and satisfaction with …

This study tested a new type of leg brace designed to help children with cerebral palsy and other movement disorders walk more easily. The brace was custom-made for each child and could be adjusted to provide different kinds of support. Researchers measured how well children walk…

This study tests whether virtual reality training can help children aged 6 to 16 with the childhood form of myotonic dystrophy type 1 (DM1) improve their ability to understand others' thoughts and emotions. Participants engage in social scenarios in a virtual environment, guided …

This study tests an experimental drug called SPI-1005 (ebselen) in adults with Meniere's disease, a condition that causes vertigo, tinnitus, and hearing loss. The trial compares three doses of SPI-1005 against a placebo to see if it safely reduces these symptoms. Researchers will…

This study followed 53 adults with non-dystrophic myotonic disorders who were taking Namuscla (mexiletine) to manage muscle stiffness. Researchers monitored side effects and how often patients needed to reduce their dose or stop treatment over up to 36 months. The goal was to see…

This study tested whether a TENS device, which sends mild electrical pulses through the skin, can reduce leg pain in people with Charcot-Marie-Tooth disease. Ten adults with chronic pain participated. The goal was to see if pain scores dropped by at least 30%.

This study tested two ultrasound-guided injections for carpal tunnel syndrome: one using a sugar-water solution (hydrodissection) and the other using a steroid. 53 adults with moderate carpal tunnel took part. The goal was to see which treatment better reduces symptoms and improv…

This early-stage trial tested a new oral drug called MTR-601 in 89 healthy adults to see if it is safe and how the body processes it. The drug aims to reduce muscle stiffness and spasms, which could help people with conditions like cerebral palsy, multiple sclerosis, or stroke. S…

This study tested two numbing methods for carpal tunnel surgery in 100 adults. One method uses lidocaine with epinephrine and no tourniquet (WALANT), while the other uses lidocaine alone with a tourniquet. The main goal was to see which method causes less pain during the operatio…

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 whether adding shockwave therapy to standard treatment (kinesio taping and physical therapy) helps relieve pain and numbness in women with mild-to-moderate carpal tunnel syndrome. One hundred female physical therapists participated. The goal was to see if the co…

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 looked at whether a type of electrical stimulation called Russian current can help people regain hand grip strength and function after carpal tunnel release surgery. Fifty-two adults aged 30 to 50 with hand weakness after surgery took part. Researchers measured grip st…

This study tested whether eye and neck exercises can reduce dizziness and uncontrolled eye movements in young adults with benign paroxysmal positional vertigo (BPPV). Fifty-six participants did either eye exercises alone or combined eye and neck exercises for six weeks. The goal …

This completed trial tested whether combining neurodynamic exercises with proprioceptive neuromuscular facilitation (PNF) techniques can reduce pain and improve range of motion in people with carpal tunnel syndrome. Forty-eight diagnosed patients performed the exercises for two w…

This study compared two physical therapy methods—pulsed ultrasound and pulsed shortwave diathermy—in 40 adults with mild-to-moderate carpal tunnel syndrome. All participants wore a wrist splint and did exercises for three weeks, plus one of the two treatments. Researchers measure…

This study tested a non-invasive treatment called radial pressure wave therapy for people with mild to moderate carpal tunnel syndrome. 60 adults received three weekly sessions of either a constant or modulated dose of the therapy. Researchers measured pain, hand function, and ne…

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 study tested whether an interactive virtual reality (VR) system could help children aged 5–10 with Duchenne muscular dystrophy (DMD) stick to their physiotherapy exercises at home. Fourteen children used the VR system for 8 weeks, and researchers measured how often and how l…

This study tested a powered leg exoskeleton (Keeogo) in 50 people with various muscle disorders to see if it is safe and helps them walk better. Participants performed walking tests with and without the device. The goal was to see if the device could improve walking distance and …

This study tested a wearable robotic suit called MyoSuit that assists knee and hip movement in people with various muscle disorders. 32 participants used the device to perform walking tests, and researchers checked for safety and any immediate improvements in walking ability. The…

This study tested if a simpler numbing method called WALANT works as well as a standard arm block for carpal tunnel release surgery. WALANT involves injecting numbing medicine directly into the wrist area, avoiding the need for a tourniquet or sedation. The trial included 130 adu…

This study tested whether using the WALANT technique (numbing the hand with local anesthetic and epinephrine) along with nerve blocks at the wrist could make carpal tunnel release surgery more comfortable than using a standard tourniquet. 60 adults having endoscopic carpal tunnel…

This study tested whether a low-immunogenic oat variety called Saul is well-tolerated by adults with celiac disease who are in remission. Forty participants ate 50 grams of gluten-free Saul oat flakes daily for 14 days. Researchers tracked symptoms and blood markers to see if the…

This study tested a minimally invasive procedure for carpal tunnel syndrome using ultrasound guidance. 40 patients who did not get better with standard treatments received the procedure. Researchers measured pain, hand function, quality of life, and how quickly patients could ret…

This pilot study tested whether a non-invasive treatment called extracorporeal shockwave therapy (ESWT) can safely reduce spasticity—muscle stiffness and spasms—in people with chronic spinal cord injury. Five participants received ESWT or a sham treatment, and researchers measure…

This study tested two ways to give steroid injections for mild-to-moderate carpal tunnel syndrome: one guided by ultrasound into the wrist, and one into the buttock muscle. 63 adults with symptoms like numbness and pain were followed to see which method improved pain, hand functi…

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 tested whether an injection of 5% dextrose (a sugar solution) works as well as a steroid (betamethasone) to relieve pain and symptoms in people with mild-to-moderate carpal tunnel syndrome. Thirty participants received one of the two ultrasound-guided injecti…

This small pilot study looked at whether osteopathic manipulative therapy (OMT) can reduce stiffness in the median nerve and improve symptoms in people with mild to moderate carpal tunnel syndrome. Ten participants received OMT along with standard care. Researchers measured nerve…

This study looked at whether adding mud therapy (peloidotherapy) to standard care (wrist splint and exercises) can further reduce pain and improve hand function in people with mild to moderate carpal tunnel syndrome. 70 adults took part, with half receiving mud therapy plus stand…

This study looked at whether adding low-level laser therapy or nerve mobilization (gentle stretching of the median nerve) after carpal tunnel release surgery improves nerve function more than surgery alone. Forty-five adults who had carpal tunnel surgery were split into three gro…

This study tested a single injection of 5% dextrose (sugar water) guided by ultrasound to separate the median nerve from surrounding tissues in 37 people with mild-to-moderate carpal tunnel syndrome. Participants were followed for 3 months to see if pain and hand function improve…

This study looked at 113 adults with carpal tunnel syndrome to see if there is a difference in pain and hand function shortly after surgery. One group had endoscopic surgery (small incisions) and the other had open surgery (larger incision). Researchers measured pain and function…

This study tested whether adding shockwave therapy to simple hand exercises helps people with carpal tunnel syndrome feel less pain and use their hands better. Twenty-six adults with mild to moderate symptoms received either shockwave plus exercises or physical therapy plus exerc…

This study looked at whether virtual reality exercises and whole-body vibration can improve muscle strength and balance in children with Duchenne muscular dystrophy (DMD). Fifty children aged 6 to 10 years who could still walk took part. The goal was to see if these fun, non-drug…

This study tested whether adding nerve mobilization exercises to standard ultrasound therapy helps people with mild-to-moderate carpal tunnel syndrome. 86 adults aged 20-55 took part. Researchers measured pain, hand strength, and nerve size before and after three weeks of treatme…

This study tested a new way to treat carpal tunnel syndrome using ultrasound guidance to perform the release procedure right in the doctor's office. 149 adults with carpal tunnel syndrome who had not improved with other treatments took part. The goal was to see if this office-bas…

This study tested whether doing nerve-gliding exercises on both hands (bilateral) is better than only the affected hand (unilateral) for people with carpal tunnel syndrome. 28 adults completed the trial. The goal was to see which approach reduces symptoms like pain and numbness m…

This study tested whether breathing pure oxygen in a pressurized chamber (hyperbaric oxygen therapy) can help adults with persistent post-concussion symptoms like headaches, fatigue, and memory problems. Twenty participants with mild traumatic brain injury received either real tr…

This study tested whether the drug fisetin, found naturally in fruits, can safely reduce symptoms of mild to moderate carpal tunnel syndrome. Forty adults took fisetin capsules for two days, then again a month later. Researchers measured changes in symptom severity and hand funct…

This study looked at whether specific hand and wrist exercises could help people with mild to moderate carpal tunnel syndrome. 91 participants did either nerve gliding exercises or strengthening exercises daily for three weeks. The results suggest these exercises may reduce stiff…

This study looked at whether adding a special self-stretching technique to standard physical therapy can better reduce pain and improve hand function in people with mild to moderate carpal tunnel syndrome. 36 adults with stage I or II carpal tunnel took part. One group did the se…

This study tested surgery to treat Complex Regional Pain Syndrome (CRPS) in the upper limb. 74 adults with CRPS who had not improved with other treatments received either nerve decompression or correction of a specific structural problem. Pain levels were measured before surgery,…

This study tested whether a physiotherapy technique called median nerve neural mobilization reduces pain in people with carpal tunnel syndrome better than ibuprofen or no treatment. 117 adults with confirmed carpal tunnel syndrome took part. Researchers measured pain using a stan…

This study looked at whether adding a specific hand and arm therapy technique (called median nerve neural mobilization) to the pain medication gabapentin could reduce pain more than gabapentin alone in people with carpal tunnel syndrome. 72 adults with confirmed carpal tunnel syn…

This study tested two common treatments for carpal tunnel syndrome: over-the-counter ibuprofen pills and a nerve exercise called neural mobilization. 123 adults with carpal tunnel took part. The goal was to see if these treatments reduce pain and improve hand and arm function bet…

This study tested two local anesthesia methods for hand, wrist, or elbow surgery. One used lidocaine alone, the other added ropivacaine for longer pain relief. 91 adults participated. Researchers measured pain and recovery quality 48 hours after surgery to see if the combination …

This study tested whether gabapentin pills or a simple physiotherapy hand stretch (nerve mobilization) can reduce pain and improve hand function in people with carpal tunnel syndrome. 126 adults with confirmed carpal tunnel took part. The goal was to see if either treatment works…

This study tested whether physiotherapy, ibuprofen arginine, or gabapentin reduces pain and improves hand function in people with carpal tunnel syndrome. 196 participants were assigned to one of these treatments or no treatment at all. The goal was to see which approach offers th…

This completed study tested whether combining a hand therapy technique (nerve mobilization) with two pain medications (gabapentin and ibuprofen arginine) reduces pain better than ibuprofen alone in people with carpal tunnel syndrome. 129 adults with confirmed carpal tunnel took p…

This study tested whether a specific physical therapy technique called median nerve neural mobilization can reduce pain in people with carpal tunnel syndrome. 74 participants were randomly assigned to receive the therapy or no treatment. The main goal was to measure pain reductio…

This study looked at 76 people with carpal tunnel syndrome to see if adding a simple hand therapy technique (nerve mobilization) to an ibuprofen pain reliever reduces pain more than the pain reliever alone. Participants were treated and their pain levels were measured using a sta…

This study tested two ways of performing nerve-mobilization exercises in 56 people with carpal tunnel syndrome. One group did the exercises from the wrist toward the neck, the other from the neck toward the wrist. The goal was to see which sequence better reduced pain, improved w…

This study tested a type of hands-on therapy called fascial mobilization in 30 new mothers with carpal tunnel syndrome. The goal was to see if it could reduce pain and improve grip strength and hand function. Results may offer a drug-free option for managing postpartum wrist disc…

This study compared two surgical treatments for carpal tunnel syndrome: a newer ultrasound-guided procedure with a small incision and traditional open surgery. Researchers wanted to see if the less invasive method leads to faster symptom relief and better hand function. Two hundr…

This study tested a new medicine called NMD670 in 81 adults with Charcot-Marie-Tooth disease types 1 and 2. Participants took either the drug or a placebo twice daily for 21 days. The main goal was to see if the drug could improve walking distance in 6 minutes. The study also che…

This study tested whether a high-intensity exercise program, run by physical therapy students, can help people with neurologic disabilities move better in everyday life. Fifteen participants with conditions like cerebral palsy, stroke, or spinal cord injury completed the program.…

This study tested three different injection techniques using a sugar-water solution (5% dextrose) to treat mild to moderate carpal tunnel syndrome. 74 adults received one of the methods, and researchers measured pain, tingling, and hand function over three months. The goal was to…

This study tested prefabricated carbon fiber ankle-foot orthoses (AFOs) in 65 children and teenagers with conditions like cerebral palsy, spina bifida, or spinal cord injuries that affect walking. Researchers measured stride length, walking speed, and user satisfaction by compari…

This study compared two types of carpal tunnel release surgery: one using ultrasound guidance with a tiny incision (less than 1 cm) and the traditional mini-open method with a slightly larger cut. Forty-one adults with carpal tunnel syndrome were randomly assigned to one of the t…

This study tested whether applying ultrasound with a hyaluronic acid gel to the wrist could help women who developed carpal tunnel syndrome from hormone therapy after mastectomy. Sixty women were split into two groups: one received the ultrasound gel treatment plus standard physi…

This study tested whether breathing muscle exercises done at home via video calls could improve lung function and quality of life in 40 children with Duchenne muscular dystrophy. The children, aged 5-17, used a device to strengthen their breathing muscles. Researchers measured ch…

This study tested whether an injection of ES135, a lab-made version of a natural growth factor, could help people with carpal tunnel syndrome. Twenty-four adults with confirmed CTS received either ES135 or a placebo injection guided by ultrasound. Researchers tracked changes in s…

This study tested whether adding dry needling to standard exercises helps people with mild to moderate carpal tunnel syndrome. 78 adults received either exercises alone or exercises plus dry needling for 3 weeks. Researchers measured pain, wrist movement, and hand function to see…

This study tests whether wearable sensors and digital home tasks can track changes in movement, speech, and falls in people with ALS. About 20 participants will wear neck and wrist sensors and complete speech and handwriting tests over 48 weeks. The goal is to see if these digita…

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 followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…

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 from the University of Oxford aims to understand how specific physiotherapy exercises (neurodynamic exercises) work for carpal tunnel syndrome. Researchers will compare these exercises to standard steroid injections and simple advice in 78 patients with mild to moderat…

This study looked at 144 adults who had carpal tunnel surgery to see if the thickness of a wrist ligament (the flexor retinaculum) is linked to developing heel pain afterward. Researchers measured the ligament during surgery and compared patients who got heel pain with those who …

This completed study in Russia checked how many people with carpal tunnel syndrome also have a rare inherited nerve condition called hereditary transthyretin amyloidosis. Researchers reviewed medical records of 721 patients and will test some for the genetic mutation. The goal is…

This study looked at the extra costs that families of people with Duchenne muscular dystrophy (DMD) in France have to pay out of their own pockets. It included 28 patients of any age who had been diagnosed for at least six months. The researchers measured things like uninsured me…

This study tested whether a new device called KForce Sens can reliably measure how well people with mild to moderate carpal tunnel syndrome sense their wrist position. Researchers compared it to a standard tool (Baseline electrogoniometer) in 70 adults. The goal was to see if the…

This study tested whether a telehealth system could help people with motor neurone disease (MND) receive specialist care from home, avoiding long trips to the clinic. It involved 40 patients and their caregivers, with half using the system for up to 18 months. The goal was to see…

This study looked at how the way words sound (phonotactic probability) and how they are spelled (orthography) affect vocabulary learning in 23 children with low oral language skills (DLD). All children took part in the same 12-week program, which used real words to improve vocabu…

This study tested whether doctors can accurately assess physical function and quality of life in children with Duchenne muscular dystrophy (DMD) through video calls. Twenty ambulatory patients aged 5-18 completed timed tests and questionnaires remotely. The goal was to see if tel…

This study looked at whether advanced MRI scans and a nerve test called MUNIX can detect the earliest signs of nerve damage in people who carry a gene mutation for familial amyloid neuropathy. Researchers studied 60 adults with the TTR mutation, comparing those with and without s…

This study involved 156 people with Charcot-Marie-Tooth disease type 1A (CMT1A), a rare nerve condition that slowly gets worse. Researchers took blood and skin samples over two years to find biological markers that could show how the disease progresses. The goal was to develop mo…

This study looked at how to improve care for dizzy patients in the emergency department. Over 90,000 adults participated. The goal was to help doctors use proven tests and treatments for common causes of dizziness like BPPV. The study tested new training and tools to make sure pa…

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 looked at how the drug tuvusertib is absorbed, broken down, and removed from the body in 12 people with advanced solid tumors. Participants received a tiny radioactive tracer to track the drug. The main goal was to understand the drug's path in the body, not to treat t…

This study examined whether pseudoexfoliation syndrome (an eye condition) is related to carpal tunnel syndrome (a wrist nerve problem). Researchers measured blood markers in 159 adults aged 50-80. The goal was to see if these conditions share a common cause, not to test a treatme…

This study looked at how neck pain changes the way people walk and control their movements. Researchers tested 60 adults—some with chronic neck pain and some without—while they performed walking tasks. The goal was to understand how neck problems affect balance and coordination d…

This study looked at 110 people who needed surgery for a broken wrist. Some had an extra procedure to release the carpal tunnel at the same time, while others waited to see if carpal tunnel symptoms developed later. The goal was to see which approach led to fewer repeat surgeries…

This completed observational study looked at 84 people to understand how diabetic polyneuropathy (nerve damage from diabetes) changes the median nerve in patients with carpal tunnel syndrome. Researchers used advanced ultrasound techniques, including shear wave elastography and m…

This completed study looked at how different levels of carpal tunnel syndrome affect people's ability to do daily activities and participate in life. Researchers measured quality of life, hand function, and symptoms in 156 adults with carpal tunnel in their dominant hand. The goa…

This study tested whether ultrasound can measure how tendons and nerves move inside the wrist in people with and without carpal tunnel syndrome. Researchers used sound waves to create images of the wrist in 257 participants. The goal was to better understand the condition, not to…

This study looked at whether certain blood markers of inflammation and vitamin B12 levels are linked to carpal tunnel syndrome. Researchers compared 70 people with and without the condition. The goal was to see if these markers could help explain why some cases are more severe.

This pilot study examined whether inflammation, measured by cytokines in the blood, plays a role in type 1 facioscapulohumeral muscular dystrophy (FSHD1). Researchers compared 20 FSHD1 patients with healthy controls to see if certain inflammatory markers are higher in the disease…

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 looked at 537 people with myotonic dystrophy type 1 to understand their risk of serious heart rhythm problems, including sudden cardiac arrest. Researchers tracked participants for two years to see how often these events happened and what factors might predict them. Th…

This study followed 37 people with a genetic risk for hereditary ATTR amyloidosis over five years. Researchers measured levels of misfolded proteins in the blood to see if they could detect the earliest signs of the disease. The goal is to develop a way to catch the condition bef…

This completed study enrolled 150 people with Duchenne muscular dystrophy to create a video database of their movement abilities. Caregivers recorded children doing specific tasks at home using a secure app. The goal was to help validate a new tool called the Duchenne Video Asses…

This study looked at 30 adults in rehabilitation who needed a walking aid for the first time. Researchers checked their hand and wrist health before and after using the aid, using questionnaires and nerve tests. The goal was to see if using canes or walkers might lead to carpal t…

This study followed 10 people with late onset Tay-Sachs disease to see how their symptoms and body chemistry changed over six months. Researchers measured balance, coordination, and brain chemicals. The goal was to gather information that will help design better clinical trials f…

This completed study looked at 125 patients of different ages to find out how much ciprofol (an anesthetic drug) they needed to lose consciousness. Researchers measured the dose and brain activity (bispectral index) during anesthesia induction. The goal is to help doctors tailor …

This study tested a new method to evaluate the strength and function of face and mouth muscles in people with facioscapulohumeral muscular dystrophy (FSHD). Twenty-two adults with a genetic diagnosis of FSHD took part. The goal was to see if this new assessment tool can reliably …

This study involved 116 people with Limb Girdle Muscular Dystrophy (LGMD), a group of rare muscle-weakening disorders. Researchers measured how well participants could walk, move their arms, and breathe, and asked about their daily activities and overall health. The goal was to i…

This study measured calf muscle thickness and length in 26 children with Duchenne muscular dystrophy (ages 6-12) who could still walk. Researchers used ultrasound and motion analysis to see how muscle structure relates to walking and other movements. The goal was to better unders…

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 followed 316 people with Duchenne muscular dystrophy who were taking Translarna (ataluren) as part of their normal medical care. The goal was to monitor side effects and see how well the drug works in everyday use. Researchers also checked if doctors and patients follo…

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 completed study created a French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected medical and genetic information from 28 patients to better understand these conditions and estimate how many people are affecte…

This study looked at whether using a Spiritual Needs Questionnaire helps identify and address the spiritual needs of patients in palliative care. About 100 patients with cancer, heart failure, COPD, or ALS took part. The goal was to see if this approach is practical and beneficia…

This study tested whether a mobile app (myFSHD) can help doctors monitor patients with facioscapulohumeral muscular dystrophy (FSHD) remotely. 70 adults with FSHD used the app at home for 12 months, completing questionnaires and video-recorded exercises. The goal was to see if pa…

This study followed 52 people with limb-girdle muscular dystrophy 2I (LGMD2I) for up to two years to learn more about how the disease changes over time. Researchers measured walking ability, muscle strength, heart function, and daily activities. The goal was to better understand …

This early-stage trial tested a single dose of the study drug GRT6019 in 18 healthy men to check its safety and how the body processes it. The study also looked at whether food changes drug absorption. Results will guide future research for Duchenne muscular dystrophy, but this t…

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 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 followed 30 adults with myotonic dystrophy type 1 (Steinert disease) and 30 healthy volunteers over three years to see how muscle strength and function change naturally over time. Researchers measured things like muscle power, walking ability, and nerve responses to fi…

This pilot study tested a wearable robotic exoskeleton called EksoNR in 5 people with stroke, spinal cord injury, cerebellar ataxia, or spastic paraplegia. The goal was to see if using the device for gait training in an outpatient setting is safe, tolerable, and feasible. Researc…

This completed Phase 4 trial looked at how two common anesthetics—desflurane and propofol—affect the optic nerve sheath diameter (a measure of pressure around the eye) in 146 adults undergoing laparoscopic gallbladder removal. The goal was simply to observe differences between th…

This study tested whether ultrasound can detect early facial muscle changes in people with facioscapulohumeral muscular dystrophy (FSHD), a rare muscle disease. Researchers compared 20 FSHD patients with 19 healthy adults, measuring muscle thickness and echo intensity in key faci…

This study looked at whether giving expectant fathers online training about basic newborn care helps them feel more capable and makes their pregnant partners feel more supported. Researchers enrolled 70 couples where the father was over 18, the pregnancy was in the third trimeste…

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 survey study asked 131 people with or at risk for Huntington disease about their feelings, attitudes, and beliefs toward clinical research. The goal is to help researchers design better studies that are more aware of participants' needs. No treatment or drug was te…

This study looked at whether showing health warning messages in a mobile app where people buy alcohol affects their purchasing. Over 11,700 adults in Sweden took part. One group saw rotating health warnings, while the other saw standard messages. The researchers tracked purchases…

This study looked at how two types of nerve diseases—inherited and acquired—affect walking and balance. Researchers used motion analysis and simple tests like the Timed Up and Go test in 67 participants. The goal was to find clear differences that could help doctors tell the two …

This study followed 113 adults with myotonic dystrophy (Steinert's disease) for 5 years to find out what factors lead to low breathing (hypoventilation). Researchers measured lung function, sleepiness, fatigue, and thinking skills. The goal is to better understand which patients …

This study tested how well two different coenzyme Q10 supplements are absorbed into the blood after a single dose. Twenty-five healthy adults aged 50-65 took each product in a crossover design. The goal was to see if a new experimental formula (BMT® coenzyme Q10) leads to higher …

This study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vis…

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 study checked if the Upper Extremity Functional Index is a reliable and accurate way to measure hand function in people with carpal tunnel syndrome. Researchers gave questionnaires to 101 patients and compared results over time. The goal was to confirm that this tool works w…

This study used powerful MRI scans to track how a rare genetic disease called metachromatic leukodystrophy (MLD) damages the brain's white matter in young children. Researchers studied 29 children aged 1 to 6 years with MLD, along with a control group, to better understand how th…

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 completed study looked at how brain wave patterns change with age during desflurane anesthesia. Researchers recorded brain activity from 47 adults and elderly patients undergoing surgery. They analyzed different brain wave features to understand how aging affects the brain's…

This completed study looked at 40 people with spinocerebellar ataxia types 2 and 7, a rare brain disease that affects movement. Researchers used MRI scans and lumbar punctures over one year to track changes in the brain and body. The goal was to find reliable markers that could b…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study looked at hospital records from 2015 to 2022 to find out how many people in France have a group of rare genetic conditions called PROS. Researchers counted new cases each year, described patient ages and other health problems, and estimated costs. No treatments were te…

This study created and tested a new scale called the CMT Pediatric Scale to measure symptoms and physical function in children with Charcot-Marie-Tooth disease. Researchers enrolled 500 children under 21 with CMT types 1, 2, or 4 at multiple centers. The scale assesses foot and h…

This study looked at whether measuring a protein called NfL in the blood or spinal fluid can help doctors manage hydrocephalus, a condition where too much fluid puts pressure on the brain. Researchers studied 41 adults with this condition to see if NfL levels relate to symptoms a…

This study followed 31 children with GM1 or GM2 gangliosidosis (including Tay-Sachs and Sandhoff disease) to carefully measure how their neurological symptoms, like walking and speech, change over time. The goal was to create a clear picture of disease progression to help design …

This completed study examined 129 older adults having elective orthopedic surgery under regional anesthesia. Researchers measured cognitive frailty and collected blood and spinal fluid to look for biomarkers of brain inflammation and degeneration. The goal was to see if these bio…

This study looked at 70 elderly women with long-term non-specific low back pain to see how their balance relates to disability, fear of falling, and social participation. Researchers measured balance, disability, and community involvement. The goal is to better understand these c…

This study looked at 60 people with carpal tunnel syndrome to see if pain sensitivity is linked to nerve ultrasound and electrical nerve tests. Researchers measured pain thresholds and used questionnaires to assess central sensitization. The goal was to find better ways to unders…

This study investigates why people with myotonic dystrophy type 1 are 10 times more likely to develop dangerous blood clots in the legs or lungs. Researchers will compare blood samples from 130 participants—including patients with the disease, those with a history of clots, and h…

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 …