Gaucher disease

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This program provides early access to the experimental drug venglustat for children and adults with Type 3 Gaucher disease who have brain-related symptoms. Participants must be at least 12 years old, weigh at least 15 kg, and be stable on standard enzyme replacement therapy. The …

This Phase 3 trial tests a gene therapy called FLT201 for adults with Gaucher disease type 1. The goal is to see if a single dose can keep blood counts stable so patients can stop their regular enzyme replacement or substrate reduction therapy. The study will enroll 45 people who…

This clinical trial tests a new type of immunotherapy called 4SCAR-T, which uses a patient's own immune cells engineered to recognize and attack three different markers (GD2, PSMA, and CD276) on neuroblastoma cancer cells. The study enrolls children and adults (ages 1 to 65) with…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This early-stage study tests a single intravenous dose of a gene therapy called LY3884961 in 15 adults with Gaucher disease type 1. The goal is to see if it is safe and can reduce or replace the need for ongoing enzyme replacement or substrate reduction therapy. Participants must…

This early-phase study tests a new treatment for children whose neuroblastoma or osteosarcoma has come back or not responded to standard therapy. The treatment uses the patient's own T-cells, which are modified in a lab to better recognize and attack cancer cells. The main goals …

This study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …

This study tests a new gene therapy called LY-M001 for adults with Gaucher disease type 1, a genetic disorder that causes organ damage and other health problems. The therapy uses a harmless virus to deliver a working copy of the GBA1 gene to liver cells, aiming to restore the mis…

This study looks at whether eating cottonseed oil just three times a week can help lower cholesterol and reduce heart disease risk. Researchers will give 75 overweight or at-risk adults meal replacement shakes with different amounts of cottonseed oil for 56 days. They will measur…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

This study screens people with eye diseases to see if they can join other research studies at the National Eye Institute. No treatment is given. Participants undergo eye exams, blood tests, and other procedures to diagnose or evaluate their condition. The goal is simply to determ…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study tests a special camera that takes super-detailed pictures of the back of the eye (the retina). The goal is to see if this technology can find eye diseases earlier than standard methods. Up to 1,000 people aged 12 and older, with or without eye disease, will have their …

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study aims to learn more about eye diseases by observing and providing standard care to up to 1,000 people over 5 years. Participants receive regular eye exams, tests, and treatments as needed. The goal is to better understand how eye diseases progress and are inherited, not…

This study is a long-term registry that follows over 1,200 people with Gaucher disease worldwide. It collects real-world data on how the disease progresses and how different treatments, including velaglucerase alfa, work over time. No new drugs are being tested; instead, particip…

This study aims to find early signs of Parkinson's disease in people who carry a change in the GBA1 gene, which puts them at higher risk. Researchers will use simple, non-invasive tests to check for subtle changes in movement, thinking, sleep, and other functions that can appear …

This study creates a registry to collect real-world information on the safety and effectiveness of ambroxol, a common cough medicine, when used at higher doses for Gaucher disease or GBA-related Parkinson disease. Researchers aim to gather data from 300 patients worldwide who are…

This study is a worldwide registry that collects health information from people with Gaucher disease over many years. It does not test any new treatments—instead, it observes patients as they receive their usual care. The goal is to better understand how the disease progresses, i…

This study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…

This observational study looks at tiny particles called extracellular vesicles in people with Gaucher disease, carriers, and healthy volunteers. Researchers want to see if these particles differ between groups and if they can help explain brain inflammation linked to the disease.…

This study is looking at new blood markers that measure inflammation and oxidative stress in people with Gaucher disease type 1. Researchers want to see if these markers can give more information than the tests currently used. The study involves 34 adults who are stable on their …

This study tests whether artificial intelligence can create simple summaries of eye doctor notes that are easier for patients to understand. About 460 English-speaking adults receiving eye care will get either standard notes or notes plus an AI-generated plain language summary. P…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study aims to find out how many people with an enlarged spleen or certain blood disorders (like multiple myeloma) also have Gaucher disease or acid sphingomyelinase deficiency (ASMD). Researchers will use a simple blood spot test to check for these rare conditions. The goal …

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study tests a new 4D microscope-integrated OCT system for the first time in people during eye surgery. Researchers want to see if the system is easy to use, safe, and can clearly show eye structures. Five adults having eye surgery will take part. The goal is to improve imagi…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study uses a special MRI technique called magnetic resonance spectroscopy to measure brain chemicals in adults with Type 3 Gaucher disease. The goal is to find markers that show how the disease affects the brain and how it responds to treatment. About 5 participants aged 18 …

This study gathers standard eye movement and pupil data from 200 healthy volunteers, children, and people with eye or brain conditions using a VR headset called neos™. The headset shows images and tracks where participants look, how their pupils react, and how their eyes move. Th…

This early-stage study tests the safety and how the body handles a new oral drug, YH35995, in 86 healthy adult men. Participants receive either the drug or a placebo, and researchers monitor side effects and drug levels in the blood. The goal is to gather safety information, not …

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

This study tests a new, more comfortable eye camera (WiSLO) designed for children and adults. Researchers want to see if it takes better pictures and is less bothersome than current cameras. About 42 people with or without eye disease will have their eyes photographed with both t…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study looks at how lipoproteins—tiny particles that carry cholesterol in the blood—work in healthy people and those with lipid disorders like high cholesterol. The goal is to understand how these particles affect heart and blood vessel health, especially when they don't func…

This study follows 200 people with Gaucher disease over many years to learn how the condition affects the body long-term, including the nervous system, liver, and spleen. It also looks at how well current treatments like enzyme replacement therapy work over time. No new treatment…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…