Lysosomal storage 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 …

Cystinosis is a rare inherited disease that causes kidney failure and poor growth due to cystine buildup in cells. This study follows 330 patients taking cysteamine, a drug that lowers cystine levels, to track long-term effects, detect new complications, and support genetic resea…

This early-stage trial is testing a new drug called DNL952 in 32 adults with late-onset Pompe disease. The main goal is to check if the drug is safe and how the body processes it. Participants will receive the drug through an IV infusion at different doses.

This study tests the drug migalastat in 8 children aged 2 to 12 with Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe, how it moves through the body, and if it helps protect kidney function. Participants will take the medicine for 12 months.

This trial tests a gene therapy for metachromatic leukodystrophy (MLD), a rare and life-threatening genetic disorder that damages the nervous system. The treatment uses a lentivirus to deliver a working copy of the ARSA gene directly into the spinal fluid and bloodstream. Up to 1…

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 study tests an experimental oral drug called S-606001 in 45 adults with late-onset Pompe disease. Participants take the drug or a placebo on top of their standard enzyme replacement therapy. The main goal is to see if the drug improves lung function and walking ability over …

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 whether adding AGuIX gadolinium-based nanoparticles to standard brain radiation can better control brain metastases that are at high risk of coming back. About 134 adults with certain cancers (like melanoma, lung, breast, or colorectal) that have spread to the br…

This study tests an oral drug called nizubaglustat in children and teens aged 4 and older with Niemann-Pick type C disease, a rare genetic disorder that affects movement and thinking. Participants will take the drug or a placebo for 18 months to see if it slows the disease and im…

This study tests an oral drug called nizubaglustat in children and teens with rare genetic disorders (GM1, GM2 gangliosidosis) that damage the brain and nerves. The goal is to see if the drug can slow disease progression and improve movement and coordination. About 75 participant…

This study tests the long-term safety and effectiveness of a daily medication called nizubaglustat in people with two rare genetic diseases that affect the brain and body. About 21 participants who were in a previous study or who have been on a similar drug (miglustat) will take …

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

This trial tests a one-time gene therapy called UX111 for children with Sanfilippo A, a rare genetic disorder that causes severe brain damage. The therapy delivers a working copy of the missing gene to cells. Researchers will measure whether it reduces harmful substances in the b…

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 study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …

This study tests a single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…

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 study tests a gene therapy called RP-A501 in 14 males with Danon disease, a rare genetic condition that causes heart problems. The treatment uses a harmless virus to deliver a working copy of the LAMP2 gene, aiming to improve heart muscle function and reduce thickening. Part…

This program offers continued treatment with idursulfase-IT (TAK-609), given directly into the spinal fluid, plus standard intravenous Elaprase, for children and adults with Hunter syndrome who have cognitive impairment. It is only open to people who completed earlier studies of …

This program provides expanded access to Mepsevii for people with MPS VII (Sly Syndrome) who have no other treatment options. It is designed for individual patients on a case-by-case basis. The goal is to offer a potential treatment when no alternatives exist.

This study tests a drug called N-acetyl-L-leucine (IB1001) in people aged 4 and older with Niemann-Pick disease type C, a rare genetic disorder that affects movement and thinking. The trial compares the drug to a placebo to see if it improves coordination and quality of life. Aft…

This early-stage study tests whether ISP-001 is safe and tolerable in 11 people with a rare genetic disease called MPS I (Hurler-Scheie or Scheie types). Participants receive the experimental treatment and are monitored for side effects. The goal is to gather safety data for futu…

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 a drug called avalglucosidase alfa in 13 Chinese children with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and heart problems. Participants will receive the drug through an IV every two weeks for about a year. The goa…

This study is testing a drug called pegunigalsidase alfa in about 16 Japanese patients aged 13 to 70 with Fabry disease, a rare genetic disorder. The goal is to see if the drug is safe and how it works in the body. Participants will receive the treatment and be monitored for side…

This study tests a drug called PRX-102 (pegunigalsidase alfa) in 22 children and teens aged 2 to 18 with Fabry disease, a rare genetic disorder that causes pain and organ damage. The drug is an enzyme replacement therapy given by infusion every two weeks. Researchers will monitor…

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 early-phase trial is testing a new drug called DCSZ11 alongside standard chemotherapy or immunotherapy in 9 people with advanced or metastatic solid tumors, including head and neck cancer. The main goal is to see if the combination is safe and whether it can shrink tumors. B…

This study tests a gene therapy called EXG110 in 12 people with Fabry disease. The therapy uses a harmless virus to deliver a working gene that may help the body produce a missing enzyme. The main goal is to check safety and find the right dose, while also looking at how it affec…

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 Phase 3 trial is testing a combination of two drugs—cipaglucosidase alfa (an enzyme replacement therapy) and miglustat (an oral medication)—in children with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and the heart. The study includes both chi…

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 follows 200 Chinese children and adults with Fabry disease who are receiving routine treatment with Replagal (agalsidase alfa). The goal is to see how the therapy affects heart and kidney function over time, as well as quality of life and safety. Participants continue …

This early study tests a one-time gene therapy injection under the retina for children with CLN2 Batten disease who already receive enzyme therapy. The main goal is to check safety in 16 participants, with a secondary look at whether it can preserve vision. It is a first-in-human…

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 study tests a gene therapy for GM1 gangliosidosis, a fatal disorder that destroys nerve cells. The therapy uses a harmless virus to deliver a working gene, helping the body produce a missing enzyme. Up to 54 children with Type I (ages 6-12 months) or Type II (ages 1-12 years…

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 follows about 100 adults with Fabry disease who are taking or planning to take the medication Elfabrio. Researchers will monitor kidney function, heart health, and disease markers over time to see how well the drug works and if any side effects occur. The goal is to un…

This early-stage trial is testing an experimental drug called HM15421/GC1134A in 18 adults with Fabry disease, a rare genetic disorder. The study aims to check the drug's safety, how the body processes it, and whether it can help control the disease. Participants receive the drug…

This early-stage trial is testing a single-dose gene therapy called AMT-191 in 12 adult men with classic Fabry disease. The therapy uses a harmless virus to deliver a working copy of the GLA gene to the liver, so the body can produce the missing enzyme. The main goals are to chec…

This study is testing the safety of Replagal, an enzyme replacement therapy, in 5 Indian children and adults with Fabry disease who have not taken it before. Participants receive an infusion every 2 weeks for about a year. The main goal is to track side effects and serious reacti…

This expanded access program provides ATB200/AT2221 to people with Pompe disease who cannot join ongoing clinical trials or choose not to use standard therapy. The treatment combines an enzyme replacement therapy with a chaperone drug to help break down glycogen buildup. Particip…

This expanded access program offers a new treatment combination (ATB200 and AT2221) to children with infantile-onset Pompe disease who are not eligible for other clinical trials and are declining on standard enzyme replacement therapy. The goal is to provide access to this experi…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This early-phase study tests a new drug called JR-446 in 10 children with mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B), a rare genetic disease that affects the brain and body. The drug is given through an IV and aims to be safe and possibly help manage the conditi…

This study is testing a non-invasive eye camera that takes pictures of the retina using different colors of light. Researchers want to see if these images can help detect signs of Alzheimer's, Parkinson's, and other neurodegenerative diseases. About 930 adults over age 30 with or…

This study tests whether cannabidiol (CBD) can safely improve behavior, mood, sleep, and daily function in people with Sanfilippo syndrome, a rare genetic disorder. Thirty-five participants will receive either CBD or a placebo, then switch after a break. Caregivers will report on…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

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 how well people with Anderson-Fabry disease can exercise and how their hearts respond to stress. Researchers will use treadmill tests, echocardiograms, and heart scans to measure heart function during rest and exercise. The goal is to find better ways to detec…

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 follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

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 aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. Th…

This study looks at gum disease in people with rare kidney disorders like Alport syndrome, Fabry disease, and tuberous sclerosis, as well as lupus. Researchers will compare 100 participants to those with chronic kidney disease and healthy controls. They aim to understand how comm…

This study follows 2,800 unpaid caregivers of people with chronic conditions like diabetes or inherited disorders. Researchers will survey and interview caregivers over up to 5 years to track changes in their health, stress, and social support. The goal is to understand how careg…

This study is a long-term registry that collects health information from people with Fabry disease, a rare genetic disorder. It does not test any new treatments; instead, it follows up to 9,000 patients worldwide to better understand how the disease progresses and how current tre…

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 looks at how liver fat changes the way the body processes rosuvastatin, a common cholesterol drug, in children aged 8 to 21. Researchers will give a single dose to 50 kids with high cholesterol and measure drug levels and response. The goal is to understand if fatty li…

This global registry enrolls people with Pompe disease to track how the condition changes over time, whether they receive treatment or not. By collecting data from up to 2,000 participants, researchers hope to better understand the disease's progression and improve patient care. …

This study aims to better understand how Pompe disease affects the nerves and muscles involved in breathing. Researchers will analyze nerve conduction and diaphragm activity in 20 adults with Pompe disease or unexplained respiratory failure. The goal is to identify patterns that …

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to und…

This study monitors up to 50 people with MPS VII (Sly Syndrome) to understand how the disease changes over time. It also checks the long-term safety and effectiveness of the drug vestronidase alfa. Participants may or may not be taking the drug, and the study involves regular che…

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 looks back at 483 patients who had small rectal neuroendocrine tumors (less than 2 cm) removed using one of two endoscopic techniques: endoscopic submucosal dissection (ESD) or endoscopic partial muscle resection (EPMR). The goal is to compare how often each method lea…

This study tracks the natural course of fucosidosis, a rare genetic disorder, in up to 57 people. It collects medical history and ongoing health data without giving any experimental treatment. The goal is to better understand the disease and help design future therapies.

This study will screen about 100,000 newborns in Normandy, France for two rare lysosomal storage diseases: MPS1 and Pompe disease. Researchers will take an extra blood sample from each baby to see how many have these conditions. The goal is to understand how common these diseases…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study follows 450 US adults with Fabry disease who are taking migalastat or enzyme replacement therapy. Researchers will track kidney function, heart and brain events, and quality of life over time to see how well these treatments work in everyday practice.

This study looks at children and teens in Russia who may have a rare genetic condition called lysosomal acid lipase deficiency (LAL-D). Researchers will check for the disease in up to 1,200 participants using blood tests and genetic testing. The goal is to understand how often LA…

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 is for children with Morquio A, a rare genetic disease that affects bones and breathing. Researchers will use safe, non-invasive tests like MRI, X-rays, hearing tests, and walking analysis to track how the disease changes over time. The goal is to better understand the…

This study follows 30 children and young adults with Sanfilippo syndrome type C, a rare genetic disorder that causes severe brain damage. Researchers will measure changes in development and thinking skills over time using standard tests. The goal is to better understand how the d…

This study follows 60 people with Danon disease, a rare genetic heart condition, to learn how it progresses over time. Researchers will monitor heart function and symptoms in males aged 8 and older and females aged 8 to 50. The goal is to gather natural history data that could su…

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 testing whether a special type of cardiac MRI can find early signs of heart damage in people with Fabry disease. Researchers will follow 300 adults with Fabry disease over time, using MRI, ECG, and blood tests to see which patients later develop serious heart proble…

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 follows pregnant women with Pompe disease to see how the condition and its treatments affect pregnancy and infant growth. Researchers will track complications and monitor babies for up to three years after birth. No new drugs are being tested; participants receive thei…

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 study follows up to 400 children with Pompe disease to see how their immune system reacts to enzyme replacement therapy. Researchers will collect medical records from birth to age 18 to understand which children develop antibodies that block treatment. The goal is to improve…

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 building a registry of 50 people with NCL, a rare and severe brain disorder. Researchers will collect detailed clinical data, biomarkers, and patient-reported outcomes over time. The goal is to better understand the disease's natural history and develop tools that c…

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 10-year observational registry will follow up to 10 women with Fabry disease who received pegunigalsidase alfa (Elfabrio) around the time of pregnancy or while breastfeeding, along with their infants. Researchers will track pregnancy outcomes, birth defects, and infant healt…

This study is a global registry that will follow about 500 people with Pompe disease over time. It includes both treated and untreated patients, and aims to collect real-world data on treatment safety, effectiveness, and quality of life. No new treatments are being tested—this is…

This study aims to learn how Pompe disease affects the brain and nerves over the long term. Researchers will use brain scans, thinking and language tests, and muscle checks in 45 people with Pompe disease. Participants will be followed for 3 to 6 years. No new treatment is being …

This study is a registry that will follow up to 300 people with LAL deficiency, a rare genetic disorder that causes fat buildup in the body. Researchers will collect information over time to better understand how the disease progresses and how it affects patients. No new treatmen…

This study follows children and adults with Tay-Sachs, Sandhoff, and GM1 gangliosidosis to understand how these diseases progress. Researchers will measure changes in motor skills, communication, and behavior each year. The goal is to create a clear picture of the diseases so fut…

This study is creating a large network of hospitals across Italy to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs), such as CADASIL, Fabry disease, and Moyamoya. Researchers will collect medical information and blood samples from 500 patients to …

This study follows 300 people with CLN3 Batten disease, a rare genetic disorder that causes vision loss, seizures, and decline in thinking and movement. Researchers collect samples like blood and spinal fluid to find biological markers that could be used in future treatment trial…

This study follows 40 men with Fabry disease for three years using a small device implanted under the skin that continuously records heart rhythms. The goal is to see how often dangerous heart rhythm problems occur and how they relate to other changes in the heart and body. No ne…

This observational study will follow up to 1,000 people in France with mucopolysaccharidosis (MPS), a group of rare genetic disorders. Researchers will collect medical data from patient records and ongoing checkups to map how the diseases progress and how current treatments affec…

This European study will follow 400 people with cystinosis, a rare genetic disease that causes cystine buildup in cells. Researchers will collect medical and quality-of-life data to understand how the disease progresses and how care can be improved. The study does not test any ne…

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 is creating an international registry for people with neutral lipid storage disease (NLSD), a rare condition where fat builds up in cells, especially affecting the heart. Researchers will collect medical history, track disease progression, and look for factors that inf…

This study uses advanced heart MRI scans to look at blood flow patterns in people with different types of hypertrophic cardiomyopathy (thick heart muscle), including rare forms like Anderson-Fabry disease and cardiac amyloidosis. Researchers will also study first-degree relatives…

This study looks at how heart and blood vessel problems develop in people with MPS I and IVA. Over 4 years, 240 participants will get yearly heart ultrasounds, blood tests, and urine tests. The goal is to find reliable markers that can track heart health and guide future treatmen…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

This study is following 500 people with cerebral small vessel disease (CSVD) to see how their genes affect their brain scans, symptoms, and health over time. Participants get genetic testing and MRI scans at the start and again after 1-2 years. The goal is to better understand th…

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 gathers safety information from about 100 women with Pompe disease who received Nexviazyme while pregnant or breastfeeding, and from their babies. Researchers will track pregnancy complications, birth outcomes, and infant growth and development through the first year o…

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 tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…

Fabry disease is a rare genetic condition that can cause pain, heart and kidney problems, and strokes. This study follows 100 people aged 65 and older with Fabry disease for 5 years, comparing those who receive specific treatment with those who do not. Researchers will measure qu…

This study watches 25 people with Fabry disease to see how the drug agalsidase alfa changes heart inflammation over one year. Participants get special heart scans (PET-CMR) at the start and after 12 months of treatment. The goal is to learn if the drug reduces inflammation in the…

This study enrolls 500 adults with nasopharyngeal carcinoma (stage I-III) who are receiving chemoradiotherapy with either proton or photon radiation. Researchers will collect imaging scans and blood samples to find markers that predict how well the cancer responds, side effects, …

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 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This study follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …

This study collects medical and genetic information from people with SPLIS, a rare condition caused by a faulty enzyme. Researchers will track survival and when kidney problems start. No treatments are given, but the registry may help future research.

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

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 collects blood samples from 100 people with rare brain diseases like adrenoleukodystrophy and metachromatic leukodystrophy. Researchers will study immune cells called macrophages to see if they affect how the disease progresses. No treatment is given; the goal is to le…

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 500 children and adults with Batten disease to learn how the condition naturally changes over time. Researchers will measure movement, thinking, behavior, and daily function using a special rating scale. The goal is to better understand the disease and improve …

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…