Proteus syndrome

This study tests a software platform called Nest that helps young adults (ages 18-49) with inherited cancer risks manage their care. Participants will use the tool to track screening and share information with doctors and family. Researchers will compare users to non-users to see…

This study is testing a blood test called GRAIL Galleri that looks for signs of many different cancers at once. It is being offered to 1000 people who have a high risk of cancer due to inherited genetic conditions. The goal is to see if the test can find cancers early, when they …

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 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 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 collects blood, urine, saliva, and tissue samples from nearly 6,000 people who have or may have cancer, including rare inherited forms. The samples are stored and used for research to understand the genetic and molecular basis of cancer. No new treatment is being teste…

This study aims to understand the genetic and biological causes of Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will follow up to 1,500 participants over time, using medical exams, imaging, and blood tests to track how …

This study collects extra blood, urine, and tumor samples from children and adults with certain cancers to build a large tissue repository. Researchers will analyze these samples to learn more about the genetic and molecular makeup of these tumors. The goal is to support future s…

This study aims to learn more about rare skeletal disorders by collecting medical records, blood samples, and genetic data from 100 participants. People with known or suspected bone conditions, as well as their healthy family members, can join either remotely or in person. The go…

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study follows 56 young adults who have a genetic condition that raises their cancer risk. After they graduate from pediatric care at St. Jude, researchers track whether they find adult doctors and continue regular cancer screenings over 8 years. Participants fill out surveys…

This study tests whether web-based tools can help people with hereditary cancer syndromes share risk information with their relatives and encourage them to get genetic testing. Researchers will enroll 625 participants (patients and their relatives) and track how many use the tool…

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 is creating a collection of blood, urine, and leftover surgical tissue from 350 patients with bone, calcium, and growth plate disorders. The goal is to better understand how these diseases progress and to find markers that could predict outcomes. No new treatments are …

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 looks at genetic changes in families to figure out which ones truly increase cancer risk. Researchers will analyze DNA from 11,000 people, including those with certain gene variants and their relatives. The goal is to improve genetic counseling and help doctors decide …

This study is testing a new online platform called Nest for young adults aged 18-39 who have had genetic testing for cancer risk. The platform gives both patients and their doctors access to updated information about genetic findings. Researchers want to see if the tool is easy t…

This study from St. Jude Children's Research Hospital looks at how parents and children (ages 10-24) talk about the child's genetic risk for cancer. The goal is to understand what helps or hinders these conversations, so doctors can create better education programs. The study wil…

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 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 2,000 people who have early warning signs of blood cancers or bone marrow failure. Researchers use a special genetic test (next generation sequencing) to find changes in cancer-related genes. The goal is to better understand who is at risk and to catch th…

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 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 compares two methods of offering cancer genetic testing to patients in community health centers. One method lets primary care doctors order tests directly, while the other uses a specialist model with extra support. Researchers will track how many patients get tested a…

This study compares a self-guided online genetic testing program to standard in-person counseling for people at risk of hereditary cancer. About 1,000 adults who meet national guidelines for genetic testing will participate. The goal is to see if the online option works just as w…

This study looks at a new way to help family members of cancer patients learn if they have inherited a higher risk for cancer. About 240 people with a known cancer gene change will be asked to share their test results with their close relatives, either on their own or with help f…

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 aims to discover new genes that increase the risk of developing cancer, especially in people with a strong family history or unusual cancer patterns. Researchers will analyze genetic data from 1,500 adults and children who have or may develop inherited cancer. The goal…

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 is building a registry of people with rare bone diseases (skeletal dysplasias) in Italy. Researchers will collect medical history, genetic data, and treatment details over time to better understand how these conditions progress. No experimental treatments are given; 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…

This study follows children under 21 who have a genetic condition that raises their risk of developing cancer, along with their relatives. Researchers will collect health information and samples over time to better understand how these cancers develop and how to catch them early.…

This study compares two ways to provide pre-test genetic counseling to people at high risk for hereditary cancers: a chatbot (Genetic Information Assistant) versus a live telegenetics session with a genetic counselor. About 96 participants will be randomly assigned to one method,…

This study collects tissue samples, medical data, and family histories from over 1,100 people being screened for colorectal or endometrial cancer. Researchers hope to discover new genes and mechanisms that increase cancer risk, especially in hereditary cancer syndromes. The goal …

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…