Hereditary peripheral neuropathy

This study compares two exercise programs—combined aerobic and resistance training versus seated soleus push-ups—against standard care in people with type 2 diabetes and diabetic peripheral neuropathy. Researchers will measure blood markers of nerve repair (BDNF, NGF, S100B) and …

This early-phase trial tests a gene therapy called SKG0201 in 11 infants with spinal muscular atrophy (SMA) type I, a severe muscle-weakening disease. The therapy uses a harmless virus to deliver a working copy of the missing SMN1 gene. The study aims to see if it is safe and can…

This study tests whether adding hyaluronic acid gel to standard deep cleaning (scaling and root planing) improves gum healing in people with both diabetes and advanced gum disease. Twenty-three participants will receive the standard cleaning on all teeth, and then two gum pockets…

This phase 2 trial is testing a daily pill called Inavolisib in about 48 people with advanced endometrial cancer that has a specific genetic change (PIK3CA mutation). The drug targets that mutation to try to shrink tumors or stop them from growing. Researchers will measure how ma…

This study tests a new gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases. Researchers will take blood cells from 6 patients, fix the genetic defect in the lab, and then see if these cells can help brain cells work better. The goal is to show the …

This early-phase trial tests a single injection of gene therapy (ELP-02) into the spinal fluid of 8 children and young adults with CMT4J, a rare genetic nerve disease that causes muscle weakness. The therapy delivers a working copy of the FIG4 gene to nerve cells, potentially slo…

This phase III trial tests a vitamin B12 injection (hydroxocobalamin chloride) in 20 children aged 6 months to 18 years with a specific type of methylmalonic acidemia (cobalamin C deficiency). The goal is to see if the injection can normalize levels of certain acids in the blood …

This study aims to see if a new radioactive dye can detect early signs of a heart condition called amyloidosis in people who carry a TTR gene mutation but have no heart failure symptoms. About 80 adults aged 30-80 will receive an injection of the dye and then have a PET/CT scan t…

This study tests whether a computer model can find signs of a heart condition called cardiac amyloidosis in bone scans that were done for other reasons. Researchers will look back at 57 patients' scans to see if the model can correctly identify those with the disease. If it works…

This study looks for early signs of a heart condition called cardiac amyloidosis in people who have had carpal tunnel surgery on both hands. Researchers will use a special heart scan to check for abnormal protein buildup. The goal is to find the disease earlier so treatment can s…

This study tests whether a special PET-CT scan using a drug called evuzamitide can detect signs of cardiac amyloidosis in people whose standard heart scans were unclear but who have high levels of a blood marker called TAD1. About 25 adults with heart failure or a genetic risk fo…

This study looks at whether a person's body weight affects the accuracy of ultrasound for diagnosing carpal tunnel syndrome. Researchers will measure the median nerve size with ultrasound and compare it to standard nerve tests in 120 adults. The goal is to see if weight 'masks' t…

This study aims to translate and test a diagnostic tool called CTS-6 for Turkish-speaking patients with carpal tunnel syndrome. Researchers will enroll 126 adults, including healthy volunteers, people with symptoms, and those already diagnosed. The goal is to ensure the tool is a…

This study tests whether TECAR therapy, a device that uses radiofrequency energy to heat tissues, can reduce pain and improve hand function in people with carpal tunnel syndrome after a burn. Fifty-two adults aged 20 to 40 with mild to moderate carpal tunnel and a history of uppe…

This study investigates whether matrix rhythm therapy, a device that delivers gentle vibrations to the hand and arm, can reduce symptom severity and improve hand function in people with mild-to-moderate carpal tunnel syndrome. Participants receive either active or sham therapy tw…

This study tests if a combination of manual therapy and nerve stimulation can relieve symptoms of moderate carpal tunnel syndrome as well as surgery recovery does. About 150 adults aged 30-50 with confirmed moderate carpal tunnel will be split into two groups: one gets the non-su…

This study compares a minimally invasive ultrasound-guided injection to standard open surgery for carpal tunnel syndrome. 72 adults who have not improved with conservative treatments will be randomly assigned to receive either the injection or surgery. The main goal is to see if …

This pilot study will test whether a device that sends magnetic pulses to the arm can reduce pain in people with tennis elbow, golfer's elbow, or carpal tunnel syndrome. About 40 adults will receive either real or fake (sham) stimulation over two days. Researchers will measure pa…

This study will compare three different injections—glucocorticoid, ozone, and 5% dextrose—to see which provides the best pain relief for people with mild to moderate carpal tunnel syndrome. Researchers will enroll 105 adults aged 18 to 65 who have not responded to conservative tr…

This study tests whether hyaluronic acid injections work as well as standard steroid shots for mild to moderate carpal tunnel syndrome. Sixty adults will receive one type of injection under ultrasound guidance, and researchers will track symptom changes and nerve function for thr…

This study tests whether an oral supplement called DLBS1033 (made from earthworm proteins) can reduce nerve damage symptoms in adults with diabetic polyneuropathy. Thirty-four people with type 2 diabetes will receive either the supplement or a placebo for 28 days, alongside stand…

This study compares three different wrist splint positions (flexed, neutral, and extended) worn at night for eight weeks in 108 adults with mild to moderate carpal tunnel syndrome. All participants also receive education and exercises. The goal is to see which position best reduc…

This study tests whether low-frequency magnetic field therapy (magnetotherapy) can reduce pain and improve function in people with mild-to-moderate carpal tunnel syndrome. Sixty adults will be randomly assigned to receive either active magnetotherapy, a placebo device, or standar…

This study looks at whether laser acupuncture can help reduce carpal tunnel syndrome symptoms in breast cancer patients who take aromatase inhibitors. Fifty-four women aged 40-60 will be split into two groups: one gets laser acupuncture plus standard physical therapy, the other g…

This study tests whether 4-aminopyridine, a drug already approved for other nerve conditions, can improve symptoms of carpal tunnel syndrome or delay the need for surgery. Researchers will give 160 adults either the drug or a placebo for 6 weeks and track symptom changes using ha…

This study looks at whether adding special hand exercises (nerve gliding or bone mobilization) to a standard wrist splint helps people with mild-to-moderate carpal tunnel syndrome more than using the splint alone. About 93 adults will be assigned to one of three groups and treate…

This study looks at whether leaving out bicarbonate from the numbing medicine (lidocaine with adrenaline) affects how well people recover the day after hand or foot surgery. About 150 adults having common procedures like carpal tunnel release or bunion surgery will be randomly as…

This study tests whether a special type of horseback physiotherapy can improve movement, posture, breathing, and quality of life in children with spinal muscular atrophy (SMA). Twenty children aged 2 to 9 years will receive both the horse therapy and standard physiotherapy in ran…

This study tests whether a non-invasive magnetic stimulation device (rPMS) can reduce pain and improve hand function in people with mild-to-moderate carpal tunnel syndrome. Forty participants will receive either real or sham stimulation plus standard exercises over two weeks. Res…

This study tests whether injecting a larger or smaller amount of fluid around the median nerve in the wrist better relieves pain from carpal tunnel syndrome. 35 adults with mild to moderate carpal tunnel will receive either 8 ml or 3 ml of dextrose, or a steroid injection. The go…

This study compares two minimally invasive treatments for carpal tunnel syndrome: pulsed radiofrequency (using heat pulses) and hyaluronidase hydrodissection (injecting a fluid to free the nerve). About 56 adults with mild to moderate carpal tunnel will be randomly assigned to on…

This study tests whether dipping the hand and forearm in warm paraffin wax for 20 minutes can immediately reduce muscle stiffness and pain in people with carpal tunnel syndrome. Twenty-four adults with the condition will be randomly assigned to either the wax treatment or rest. R…

This study looks at whether a single 20-minute warm whirlpool bath can quickly reduce muscle stiffness and pain in the forearm and hand for people with carpal tunnel syndrome. About 24 adults with the condition will either take the bath or rest. Researchers will measure muscle st…

This study tests whether taking N-acetylcysteine (NAC), a common supplement, before and after hand or foot surgery can reduce pain and the need for opioid painkillers. About 80 adults will be randomly assigned to take NAC or a placebo for 14 days. Researchers will track pain, fun…

This study tests whether carpal tunnel release surgery actually works better than a placebo surgery for carpal tunnel syndrome. 96 adults with confirmed CTS will be randomly assigned to real surgery or a sham procedure, and neither they nor their doctors will know which they rece…

This study will observe 30 children with type I or type II spinal muscle atrophy who are taking risdiplam. Researchers will track motor function improvements over 24 months using standard tests. The goal is to see how well the drug works in everyday medical practice.

This observational study monitors the long-term safety of eplontersen, a treatment for transthyretin amyloidosis, in patients who have had a liver transplant or have severe liver impairment. Researchers will track side effects, lab changes, and serious health events in about 320 …

This study will test blood samples from 450 people aged 6 to 60 with inherited neuromuscular diseases to see if they have antibodies that could block gene therapy viruses (AAVs). The goal is to understand how common these antibodies are and which patients might be good candidates…

This study is a registry that will collect health information from 1,000 people who carry the gene for hereditary amyloidosis, including those with and without symptoms. Researchers will track who develops the disease and how it progresses, including the need for heart transplant…

This study will interview 15 parents or guardians of children with spinal muscular atrophy type 1 to learn about their daily challenges with feeding and communication. Even though newer treatments have improved survival, their impact on swallowing and speech is not well understoo…

This study will use wearable activity trackers to measure how much people with Charcot-Marie-Tooth disease type 1A (CMT1A) move at home. Researchers want to see if sensor data matches standard clinical tests. The goal is to improve patient follow-up and support future trials of n…

This study looks at bone health in children with spinal muscular atrophy (SMA), a condition that causes muscle weakness. Researchers want to find out how common fractures are and whether newer SMA treatments affect bone strength. They will review medical records from about 550 ch…

This study follows 60 adults with hand or upper limb injuries to see if improvements in the first weeks of rehab can predict function months later. A digital tool created by a therapist tracks progress and patient feedback. The goal is to help clinicians make better, data-driven …

This study will check if levels of Alzheimer's-related substances in the blood differ among the main ethnic groups living in central Barcelona. Researchers will also look at how age, income, education, and health conditions affect these levels. The goal is to identify barriers to…

This study will test whether a 12-week progressive resistance training program can improve brain health in people with relapsing-remitting multiple sclerosis. Researchers will measure brain volume and a nerve damage marker in the blood. The trial involves 26 participants and aims…

This study uses ultrasound to measure the size and blood flow of the median nerve in people with carpal tunnel syndrome. Researchers will compare findings between diabetic and non-diabetic patients to see if diabetes affects nerve changes. The goal is to better understand the con…

This study looks at two ways to help people with Charcot-Marie-Tooth disease (CMT) walk better. One group gets foot surgery followed by rehabilitation, the other gets only physical therapy. Researchers will track walking speed and endurance for up to two years to see which approa…

This pilot study looks at fatigue in people with Charcot-Marie-Tooth type 1A (CMT1A), a nerve disorder affecting arms and legs. Researchers will compare 22 patients with 22 healthy volunteers to measure how fatigue affects walking and balance. They use tests like muscle strength …

This study looks at how two types of peripheral neuropathy—hereditary and inflammatory—affect daily life and well-being. Researchers will ask 60 adults to fill out questionnaires about their functioning, independence, and quality of life. No treatments are given; the goal is to b…

This study looks at whether a protein called neurofilament light chain (NfL) in the blood can help measure brain injury in newborns with hypoxic-ischemic encephalopathy (HIE), a condition caused by lack of oxygen at birth. Researchers will measure NfL levels at several time point…

This study will measure vitamin D and nerve growth factor levels in 57 men with type 2 diabetes and nerve damage, comparing them to diabetic men without nerve damage and healthy men. Researchers will also test nerve function using electrical studies. The goal is to see if low vit…

This study looks at how parents feel after their newborn is screened for spinal muscular atrophy (SMA). Researchers will interview 36 parents in two French regions to understand their anxiety, stress, and support needs. The goal is to improve how screening results are shared and …

This study looks at how having a structured, values-based conversation affects people's decisions about diagnostic imaging tests for common musculoskeletal conditions like arthritis, carpal tunnel syndrome, and tendon problems. About 220 adults from a specialty clinic will read a…