Hereditary peripheral neuropathy

This study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…

This Phase 3 trial tests whether the oral drug remibrutinib works better than teriflunomide at reducing relapses and slowing disability in people with relapsing multiple sclerosis. About 1,000 adults aged 18–55 with active MS are taking part. The study is double-blind, meaning ne…

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…

This study tests whether the drug tafamidis can safely stop the progression of ATTR amyloidosis in people who have already received a heart transplant. About 25 stable patients will take tafamidis daily for 12 months. Researchers will measure changes in blood protein levels, nerv…

This Phase 2 trial tests two experimental drug combinations in 63 women with a specific type of ovarian cancer (BRCA-mutant or HRD-positive) that has worsened after prior PARP inhibitor treatment. Participants receive either tuvusertib plus niraparib or tuvusertib plus larteserti…

This study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…

This study tests whether adding taldefgrobep alfa to standard SMA treatments can improve muscle function in people with spinal muscular atrophy (SMA). About 269 participants, both walkers and non-walkers, will receive either the drug or a placebo for 48 weeks. The main goal is to…

This early-stage trial tests a new gene therapy called NKG001 in 21 children under 5 with spinal muscular atrophy (SMA). The therapy is given as a single dose, either through a vein or combined with a spinal injection. The main goal is to check safety and find the best dose, not …

This Phase 3 trial tests remibrutinib, an oral tablet, against teriflunomide in 1000 adults with relapsing multiple sclerosis. The goal is to see if remibrutinib better reduces yearly relapse rates and delays disability. Participants will then have the option to continue remibrut…

This study was designed to test whether the drug govorestat could improve symptoms of Charcot-Marie-Tooth disease caused by sorbitol dehydrogenase deficiency (CMT-SORD), a rare nerve condition. It planned to enroll people aged 16 to 65 and compare govorestat to a placebo over 36 …

This study tests a new drug, Tuvusertib, combined with an immunotherapy called Cemiplimab in people with a specific type of advanced lung cancer (non-squamous non-small cell) that has worsened after prior treatments. The trial aims to see if the combination can shrink tumors and …

This expanded access program provides apitegromab, an experimental drug that blocks myostatin to help maintain muscle strength, to eligible patients with spinal muscular atrophy (SMA) before it is officially approved. Participants must be at least 2 years old and have a confirmed…

This study tests the drug alpelisib, already approved for some breast cancers, in people aged 2 months to 30 years with certain blood vessel growth disorders caused by PIK3CA or TIE2 gene changes. Participants take the drug for 2-3 years and attend up to 16 clinic visits to check…

This study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…

This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…

This study tests a new drug called 9-ING-41, given alone or with chemotherapy, in adults with cancers that have not responded to standard treatments. The goal is to see if the drug is safe and can help control the disease. About 350 people with various advanced cancers, including…

This study tests the drug sirolimus (rapamycin) in 15 people aged 6 months to 55 years with genetically confirmed Leigh syndrome, a rare and serious mitochondrial disease. The goal is to see if the drug is safe and can help with symptoms like muscle weakness and developmental del…

This study tests an oral drug called emavusertib (CA-4948) in adults with acute myeloid leukemia (AML) or a high-risk bone marrow disorder (MDS) that have not responded to or returned after prior treatment. The goal is to find the safest and most effective dose and to see if the …

This study tests a new painless nerve growth factor eye drop (CHF6467) in 36 children and young adults with optic pathway glioma, a brain tumor that often causes vision loss. The goal is to see if the drops can protect or improve vision without the pain side effects of standard n…

This pilot study tests whether combining intensive hand-arm and leg therapy with strength training can improve motor function in children with spinal muscular atrophy (SMA). Five children will attend one 6-hour session each weekend for 15 weeks. Researchers will check if the ther…

This study is for people with a rare heart condition called ATTR amyloidosis with cardiomyopathy, where abnormal protein builds up in the heart. It tests the long-term safety and effectiveness of a drug called vutrisiran, given as an injection every three months. About 700 adults…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This study tests whether breathing short bursts of air with slightly less oxygen can help nerves in the hand heal better after injury. The therapy is non-invasive and aims to improve hand function and reduce pain. About 80 adults with severe carpal tunnel syndrome will be enrolle…

This study tests a drug called vutrisiran in 655 adults with a rare heart condition caused by abnormal protein buildup (ATTR amyloidosis with cardiomyopathy). The drug is given as a shot every 3 months and aims to reduce deaths and heart-related hospital stays. The goal is to see…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This early-stage trial tests an experimental oral drug called PRJ1-3024 in 39 adults with advanced solid tumors that have not responded to standard treatments. The main goal is to check safety and find the right dose. Researchers will also look for early signs that the drug may s…

This study looks at the long-term safety and effects of a drug called eplontersen in people with a rare inherited nerve disease called hATTR-PN. About 151 participants who completed earlier studies will receive regular injections of eplontersen. The goal is to see if the drug rem…

This study follows 20 adults with spinal muscular atrophy (SMA) type II who are already taking SPINRAZA. Researchers will measure motor function using a 32-point scale over 27 months to see if the drug helps maintain or improve movement. The goal is to better understand how SPINR…

This early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…

This study tests a new gene therapy called SKG0201 in 12 infants with spinal muscular atrophy type 1, a severe muscle-weakening disease. The treatment aims to improve survival and motor skills by delivering a working gene. Researchers are checking safety and how well the therapy …

This study looks at people with relapsing-remitting multiple sclerosis who switched from the drug MabThera to a similar, lower-cost medicine called Rixathon. Researchers want to see if the switch changes signs of nerve damage, new brain lesions, relapses, or disability. They will…

This study is testing whether low-dose lithium aspartate, a dietary supplement, can slow the progression of Parkinson's disease. It involves 35 people who have already completed a lithium trial, and they will take lithium for another 24 weeks. Researchers will use brain scans and…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Charcot-Marie-Tooth disease type 2D (CMT2D) caused by a specific GARS1 gene mutation. The drug aims to improve motor skills and quality of life. Only one participant is enro…

This study tests a custom-made drug (VCA-894A) in a single person with a rare genetic nerve disease called CMT2S. The drug is designed to correct a specific genetic error and restore a missing protein. The main goals are to check if the treatment is safe and if it can improve mus…

This study follows 7 people who previously received a gene therapy called AXO-AAV-GM2 for Tay-Sachs or Sandhoff disease — rare, fatal genetic disorders that destroy nerve cells. Researchers will track them for up to 5 years to see if the treatment remains safe and whether it help…

This early-stage trial tests a single injection of gene therapy for people with SMARD1 or CMT2S, rare diseases caused by mutations in the IGHMBP2 gene. The therapy delivers a working copy of the gene directly into the spinal fluid. Ten participants, ranging from infants to childr…

This study tests a drug called pacritinib in people with advanced solid tumors (like breast cancer) that have a specific genetic change called 1q21.3 amplification. The goal is to see if the drug can shrink tumors or slow their growth. About 74 adults whose cancer has not respond…

This study tests two drugs, nivolumab and cabozantinib, together in 60 people with advanced or metastatic non-clear cell kidney cancer. The goal is to see how well the combination shrinks tumors. Participants take cabozantinib daily and receive nivolumab infusions every two weeks…

This UK trial tests whether cladribine tablets, taken for just 8-10 days a year over two years, can slow the loss of hand function in people with advanced multiple sclerosis (MS). The study includes 204 participants with significant disability (EDSS 6.5-8.5). Half receive cladrib…

This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study explores whether ultrasound elastography, a non-invasive imaging technique, can accurately diagnose carpal tunnel syndrome (CTS) without the need for painful needle-based nerve tests. Researchers will enroll 80 participants—some with CTS and some healthy volunteers—to …

This study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and f…

This study is testing a way to find cardiac amyloidosis—a rare but serious heart condition—earlier in people aged 65 and older. Researchers in Turkey will screen 800 patients at family medicine clinics using simple blood tests and medical history. The goal is to see if this appro…

This study aimed to test a computer algorithm that uses insurance claims data to identify people with ATTR amyloidosis, a rare disease that affects the heart and nerves. Researchers planned to check how well the algorithm worked by reviewing medical records. However, the study wa…

This study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests whether a pain-relief gel (pregabalin) delivered through the skin using ultrasound can reduce pain and improve hand function in people with carpal tunnel syndrome. The treatment is given four times a week for a month, and compared to standard ultrasound therapy w…

This study tests a biodegradable tube that is placed over a cut nerve during a leg biopsy. The goal is to see if it is safe and reduces common side effects like pain, redness, and swelling. Twenty adults with various nerve conditions are taking part, and half will get the tube wh…

This study tests a 12-week online program for mothers of infants (12-36 months old) with SMA Type 1. The program aims to teach mothers how to support their baby's development and improve their own knowledge. Thirteen mothers will take part, with 10 receiving the program and 3 rec…

This study tests two simple treatments for mild to moderate carpal tunnel syndrome: pain neuroscience education (learning how the brain processes pain) and kinesio taping (applying elastic tape to the wrist). Sixty adults aged 18 to 60 with symptoms for at least 3 months will rec…

This study tests whether injecting a 5% dextrose (sugar water) solution around the nerve in the wrist can reduce pain and improve hand function in people with mild to moderate carpal tunnel syndrome. About 96 adults who haven't gotten better with standard care will receive the in…

This study tests a medicated film placed under the tongue to quickly ease severe episodes (autonomic crises) in people with familial dysautonomia. The film contains dexmedetomidine, a drug that calms the body's stress response. Researchers will check if it reduces symptoms like h…

This study tests whether using a lower-pressure tourniquet during orthopedic surgeries can reduce pain and the need for opioid painkillers afterward. Standard tourniquets use high pressure, which can cause muscle weakness and pain. The experimental device sets pressure based on t…

This study tests whether warm paraffin wax baths or mud therapy (peloidotherapy) can reduce pain and improve hand function in people with mild to moderate carpal tunnel syndrome. Ninety adults will be split into three groups: one gets mud plus home exercises, another gets wax plu…

This study looks at two treatment plans for carpal tunnel syndrome, which causes hand numbness and pain. One plan starts with up to two steroid injections, then offers surgery if needed. The other plan goes straight to surgery. About 258 adults with mild to moderate symptoms will…

This study looks at whether a 6-day course of oral steroids after orthopedic surgery can help reduce pain, nausea, and improve movement. About 500 adults having common surgeries like joint replacement or fracture repair will be randomly assigned to receive either standard care or…

This study looks at whether a type of electrical current called diadynamic current can reduce pain and improve hand function in people with carpal tunnel syndrome. About 80 adults with mild to moderate carpal tunnel syndrome will receive this therapy along with standard care like…

This study tests whether injecting a patient's own fat (lipografting) into the wrist can improve symptoms of mild to moderate carpal tunnel syndrome better than standard steroid injections. The fat is thought to reduce scarring and help nerves glide more freely. The trial plans t…

This study tests whether adding sodium bicarbonate (baking soda) to the local anesthetic used during carpal tunnel release surgery reduces the pain of the injection itself. 116 adults with carpal tunnel syndrome will be randomly assigned to receive either buffered or standard ane…

This study compares two common types of stitches used to close the wound after carpal tunnel release surgery: absorbable stitches that dissolve on their own and non-absorbable stitches that need to be removed. About 116 patients will be randomly assigned to one stitch type, and t…

This study was designed to see if giving a short, mild electrical stimulation to compressed nerves during surgery could speed up recovery of strength and function. It planned to include people with nerve compression in the spine or limbs who were already scheduled for decompressi…

This long-term study looks at children and adults with inherited nerve and muscle disorders that start early in life, like muscular dystrophy. Researchers will track symptoms over time and collect genetic samples from affected individuals, their family members, and healthy volunt…

This study looks at whether low blood pressure during major noncardiac surgery harms organs like the heart and kidneys. Researchers are using a non-invasive brain monitor to see if a personalized blood pressure target can be set. 650 patients at cardiovascular risk are being obse…

This study examines whether a low pulse pressure (the difference between top and bottom blood pressure numbers) in the first hours after a cardiac arrest is linked to early death. Researchers will analyze data from 3500 patients who had a cardiac arrest outside the hospital and a…

This observational study is looking at a protein called neurofilament light chain (NfL) in the blood of people who carry a gene variant for hereditary ATTR amyloidosis, both those without symptoms and those with nerve damage. Researchers want to see if NfL levels can help detect …

This study looks at whether anxiety and depression are connected to carpal tunnel syndrome in medical students. Researchers will measure the median nerve in the wrist and check students' anxiety and depression levels using questionnaires. The goal is to see if there is a link bet…

This study tests whether giving patients with hand problems like carpal tunnel syndrome or trigger finger a decision aid—a booklet with clear information about their condition and treatment options—helps them feel more satisfied and less conflicted about their choices. About 126 …

This study is checking whether a questionnaire called the MAP-Hand scale is a valid and reliable way to measure hand activity in people with carpal tunnel syndrome. Researchers will enroll 180 adults with mild or moderate carpal tunnel syndrome and compare their scale results to …

This study follows 30 infants with congenital heart disease who need heart surgery. Researchers will use blood tests, EEG brain wave monitoring, and MRI scans to look for signs of brain injury. The goal is to find better ways to detect brain damage early and identify which childr…

This study aimed to see if using stitches that dissolve (absorbable) or stitches that need removal (non-absorbable) leads to better scar appearance and patient satisfaction after carpal tunnel or trigger finger surgery. It was planned for adults having these common hand surgeries…

This study is tracking 2000 adults with carpal tunnel syndrome who are having surgery to release the nerve. The surgery uses a special device called UltraGuideCTR, which is guided by ultrasound. Researchers are collecting real-world data on symptoms and hand function for up to 24…

This study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…

This study tests a new ultrasound technique called shear wave elastography to measure stiffness in the wrist nerves and tissues of people with carpal tunnel syndrome. Researchers will compare these measurements with standard tests before and after treatment (surgery or steroid in…

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study follows 20 adults with hereditary transthyretin amyloidosis (ATTRv) who have both nerve and heart involvement. They are treated with patisiran or vutrisiran for two years. Researchers use MRI scans and questionnaires to see how the drugs affect heart structure and func…

This study looks at whether a new care pathway can shorten wait times for people with carpal tunnel syndrome. Researchers will compare wait times before and after the pathway is put in place. About 200 adults will take part and fill out a short satisfaction survey.