Myopathy, lactic acidosis, and sideroblastic anemia

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 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 whether testicular tissue frozen before puberty can be transplanted back into adult men to restore sperm production. Five men who had fertility-threatening treatments as children will receive their own preserved tissue. The goal is to see if sperm can be found in…

This study is checking whether unlicensed cord blood units are safe to use for stem cell transplants in children and adults with blood disorders. Researchers will closely watch for any infusion-related problems. The goal is to see if these units can be a safe option for patients …

This study tests whether the drug lusutrombopag can help restore platelet levels faster in patients who have had a stem cell transplant for blood disorders. About 45 adults will receive the drug after transplant, and doctors will check platelet counts at 21 days. The goal is to i…

This study is for adults with blood disorders who are getting a stem cell transplant from a matched donor. Researchers want to see if giving a special potato starch along with a drug that lowers iron (deferasirox) can help prevent serious complications like graft-versus-host dise…

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 is testing a handheld device called mScan that uses a tiny, painless electrical current to measure muscle health. Researchers want to see if it can give similar results to an MRI, but faster and more conveniently. The study involves 150 adults with and without muscle d…

This Phase 2 trial tests whether KL1333 can reduce fatigue and improve leg strength in adults with primary mitochondrial disease, a genetic condition that affects energy production. About 180 participants will receive either KL1333 or a placebo twice daily for 48 weeks. The study…

This study looks at whether doing breathing exercises before orthopedic surgery (like knee, hip, or fracture repair) can help your lungs work better after the operation. It involves 36 adults who have used tobacco and are at risk for breathing problems after surgery. Participants…

This early-stage study tests a new drug called APG-5918 in healthy volunteers and people with anemia (low red blood cells). The main goal is to check safety and how the body handles the drug, while also seeing if it can raise hemoglobin levels. About 105 participants will take pa…

This study tests whether a program of exercise and ergonomics training can reduce muscle and joint pain in teachers. About 80 teachers who have had pain for at least three months will be randomly assigned to receive the training or not. Researchers will measure changes in pain, d…

This study tests a web-based app called IAMABLE that provides evidence-based rehabilitation strategies for people with chronic conditions like heart disease, arthritis, or neurological disorders. Fifty adults aged 45 to 75 will use the app for 4 months to set goals and learn abou…

This study tests whether extra support for case managers helps veterans leaving the military better manage pain and reduce risky substance use. About 1800 veterans will take part. The program focuses on non-drug pain treatments and counseling.

This study collects blood stem cells and immune cells from healthy volunteers and patients with primary immune deficiencies or blood disorders. The cells are used in the lab to develop new gene and cell therapies. Up to 850 adults aged 18-70 will participate. The goal is to advan…

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 at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…

This study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…

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 collects blood, bone marrow, urine, and tissue samples from up to 6,000 people with solid tumors, blood cancers, or non-cancerous blood disorders, as well as from their healthy family members who are stem cell donors. The samples are stored and used in research to bett…

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 for better ways to detect lung inflammation and infections early in people who have received a stem cell transplant from a donor. About 40 participants aged 5 to 70 will get regular lung scans, breathing tests, blood draws, and a procedure where a tube collects f…

This study translates and tests several health questionnaires—covering pain, arm and leg function, mood, and daily activities—for use with Albanian-speaking people. Researchers will check if the translated versions are reliable and accurate by giving them to about 300 participant…

This study tests a new tool called the PRISM Dashboard, which gives physiotherapists feedback on how their decisions compare to their peers. The goal is to see if this feedback helps reduce differences in care for people with muscle and joint pain. About 60 physiotherapists and t…

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 explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…

This study is a large registry that collects health information from up to 200,000 people with blood disorders such as hemophilia, thrombosis, and sickle cell disease. Participants are seen at Hemophilia Treatment Centers across the U.S. The goal is to gather real-world data to h…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study follows 252 adults with muscle, bone, or joint problems (like arthritis, back pain, or after surgery) to see how well they do their prescribed home exercises. Researchers will track who sticks with the program and why, looking at factors like pain, mood, and support. T…

This study looks at how gut bacteria and the immune system interact in children and adults receiving stem cell transplants or CAR-T therapy. Researchers will collect stool and blood samples over time to find patterns linked to complications like infections or graft-versus-host di…

This study looks at whether doctors at Siriraj Hospital follow a new guideline for treating anemia in patients before major surgery. Anemia is common in surgical patients and can lead to more blood transfusions and worse outcomes. The researchers will track 93 anemic patients to …

This study tests whether using a virtual reality (VR) headset during shoulder exercises helps patients feel more engaged and motivated. Fifty adults with shoulder problems will do rehab exercises in a VR environment and then answer questionnaires about how easy and immersive the …

This study is looking at whether a molecule in the blood called miR-1 can help doctors understand how muscle diseases like Duchenne muscular dystrophy and myotonic dystrophy are progressing. Researchers will compare miR-1 levels in 104 people, including patients with different mu…

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 create a secure national database for muscle and joint (musculoskeletal) conditions by collecting routine data from community clinics and GP practices. About 22,000 adults will have their information anonymously gathered to help develop a dashboard that tracks …

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This study watches 2000 people having hip or knee replacement surgery to see how long spinal anaesthesia lasts. The goal is to learn how the amount of anaesthetic affects timing, helping doctors decide if patients can safely go home the same day. No new treatments are tested—just…

This study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…

This study collects DNA from up to 1,000 adults with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), multiple system atrophy (MSA), or related conditions, plus their family members. Researchers will sequence participants' whole genomes to find genetic variants …

This study follows 102 women who had fertility preservation before cancer treatment to see what happens long-term. Researchers want to know if they get pregnant naturally, use stored eggs or tissue, or decide not to have children. The goal is to improve support and care for femal…

This study is collecting long-term safety and effectiveness data on treatments for various blood disorders, including hemophilia, sickle cell disease, and clotting disorders. It aims to enroll 3000 people of any age with these conditions. Researchers will monitor side effects, co…

This study is creating a collection of blood samples from 2,000 people with various blood disorders. The samples will be stored and used for future research approved by an ethics board. No treatments or drugs are being tested, and participants continue their normal care.

This study looks at how changing the heel cushion on an ankle-foot brace (AFO) affects walking in people who use one daily. Forty adults with leg injuries or nerve problems will try four different heel wedges—tall or short, soft or firm—while walking at controlled speeds. Researc…

This study looks at how 3D computer simulation and printing can help surgeons better plan and perform bone correction surgeries. Researchers will compare the planned corrections to the actual results in 100 children and young adults with rare bone deformities. The goal is to make…

This study looks at families who carry a change in the DDX41 gene, which may raise the risk of blood cancers like leukemia. Researchers will collect health questionnaires and saliva samples from up to 910 people to track who develops blood problems and when. The goal is to better…

This study is observing 1000 adults having moderate- to high-risk surgery to see if the type and severity of anemia they have before surgery affects their risk of complications like heart injury, kidney injury, or stroke. Researchers will compare patients with iron-deficiency ane…

This study follows 4,000 children who receive orthopedic implants (like rods or screws) during standard care for bone fractures, deformities, or hip problems. Researchers will track how long the implants last, any complications, and how well they work over time. The goal is to ga…

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 looks at using a needle placed into the bone marrow (intraosseous infusion) to give fluids and medicines quickly to critically ill patients with blood diseases. Researchers will enroll 52 adults aged 18-65 to see how often the first attempt works and how safe it is. Th…

This study follows 144 adults with muscle or bone problems who are already scheduled to receive treatment with Chattanooga Intelect devices (like TENS or ultrasound). Researchers will measure pain, muscle strength, and movement range to confirm the devices are safe and work as ex…

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 is a registry that tracks patients with blood diseases who receive stem cell transplants at a hospital on the Qinghai-Tibet Plateau. Researchers will collect information on recovery, complications, and costs over time. The goal is to understand how high altitude affect…

This study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new the…

This study looks at whether a quick ultrasound of the thigh muscle can detect muscle loss (sarcopenia) in people who have finished cancer treatment. Researchers will compare the ultrasound results with a standard whole-body scan (DEXA) in 55 adults aged 18-74 with certain cancers…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…

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…