Hereditary peripheral neuropathy

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 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 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 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 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 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 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-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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 …