X-linked disease

This early-stage trial tests a new cell therapy called Rincell-1 for adults with certain types of hearing loss who are getting a cochlear implant. The study will compare the safety and early effectiveness of receiving the cell therapy plus the implant versus the implant alone. Ab…

This trial tests whether two self-assessment methods in a smartphone app can generate hearing aid settings that match those from a standard hearing test. Adults with perceived mild-to-moderate hearing loss will use the app to self-test their hearing and also undergo conventional …

This phase 4 trial tests whether Altuviiio (efanesoctacog alpha) can help children with severe hemophilia A and high-titer inhibitors achieve immune tolerance. Participants also receive Hemlibra (emicizumab) to prevent bleeding. The study involves 15 children under 18 and will tr…

This observational study will follow 40 children aged 7 to 12 with hemophilia A who are already prescribed damoctocog alfa pegol (Jivi) to prevent bleeding. Researchers will collect data from routine care, including bleeding episodes and treatment patterns, over two years. The go…

This study looks at the safety and effectiveness of Octocog alfa, a lab-made clotting factor, when used to treat sudden bleeding episodes in adults with severe hemophilia A. About 33 people in India who have used factor VIII before will take part. Researchers will track side effe…

This study will follow 20 children with hemophilia A who are starting emicizumab treatment. Researchers will measure pain, joint health, balance, and mobility over time to see if the drug helps protect the musculoskeletal system. The goal is to understand whether emicizumab can r…

This trial tests whether a new ultra-rapid genetic test, using third-generation sequencing, can diagnose familial lymphohistiocytosis (FHL) in children within 5 days instead of the usual 6-8 weeks. FHL is a rare, life-threatening genetic condition where the immune system attacks …

This pilot study tests a new imaging system that uses OCT and vibrometry to let doctors see the middle ear bones and measure how they move in response to sound. The study enrolls 500 adults with conductive or sensorineural hearing loss. The goal is to compare these detailed motio…

This study tests whether a mechanical 3D ultrasound device can detect joint damage in people with hemophilia as accurately as a full ultrasound or MRI. Eleven participants will have their ankles scanned with the new device. If it works well, it could offer a faster, less expensiv…

This study tests whether electroacupuncture (mild electrical pulses through thin needles) can help patients whose stomachs stop working properly after surgery for digestive tract tumors. Seventy-six adults who had such surgery and developed gastroparesis (stomach paralysis) will …

This study tests whether a structured educational program can help adults with hemophilia who have chronic joint pain. The program teaches about pain, emotions, and coping strategies. 70 participants will be randomly assigned to either the education program or usual care, and the…

This study compares two ways to insert a cochlear implant: using a robotic device or the standard manual method. Researchers want to see which approach leads to better hearing one year after surgery. The study will enroll 32 adults with hearing loss, randomly assigning them to on…

This study tests whether a virtual reality exercise program using Kinect Xbox can improve joint health, balance, and quality of life in 20 boys aged 6-18 with hemophilia A. Participants will play motion-controlled games for 40 minutes, three times a week for eight weeks. The goal…

This study uses ultrasound to examine the joints of adults with mild hemophilia, a group that often goes understudied. Researchers will scan six joints (ankles, knees, elbows) to look for early signs of damage that may not cause symptoms yet. The goal is to see how common joint p…

This observational study will take small liver samples from 8 adults with hemophilia A or B who had gene therapy at least 6 months ago. Researchers want to see how the gene therapy affected liver cells, including how many cells still carry the therapy and whether there is any liv…

This study looks back at the medical records of 200 people who received a SONATA 2 cochlear implant. The goal is to understand how well the implant works over time in real-world settings, including speech recognition in quiet and noisy environments. Researchers will also analyze …

This study compares how well adults with hemophilia (ages 18–35) perform a 30-second sit-to-stand test versus healthy peers of the same age. The goal is to see if this simple test can detect differences in leg strength and endurance linked to joint damage from bleeding. Participa…

This study investigates how pomegranate dietary supplements influence gut bacteria and inflammation in people with alcohol use disorder and alcohol-related liver disease. Researchers will measure levels of beneficial gut metabolites called urolithins and inflammatory markers in b…

This study tests a smart sharps disposal container that helps hemophilia patients safely throw away used needles at home. About 23 adults with moderate or severe hemophilia will use the device for several weeks. Researchers want to see if patients find it easy to use and if they …

This observational study looks at children with moderate or severe hemophilia A who are on one of two preventive treatments: a longer-acting factor VIII therapy (efanesoctocog alfa) or a non-factor therapy (emicizumab). Researchers want to see if there are differences in how well…

This study will take 3D scans of the inside of the mouth from 240 people with rare bone or cartilage diseases and from healthy volunteers. Researchers will use shape analysis and artificial intelligence to see if these scans can help tell different diseases apart. The goal is to …

This study asks adults with haemophilia A in Germany to complete an online survey about their preferences for preventive treatments. Participants choose between hypothetical treatment options that vary in effectiveness, safety, and how they are given. The goal is to understand wh…

This study will follow 50 men with severe hemophilia A for five years to compare bone density between those taking emicizumab and those taking efanesoctocog alfa. Researchers will also measure bone remodeling markers and joint health. The goal is to see if one treatment is linked…

This study will follow 100 adults with X-linked hypophosphatemia (XLH) who are already taking burosumab. Researchers want to see how phosphate levels change over time and how they relate to bone health and overall disease burden. The goal is to better understand the condition and…

This observational study will follow 500 children with hemophilia A who use non-factor therapy to prevent bleeding. Researchers want to understand why some children develop antibodies against factor VIII while others do not. By studying blood and stool samples over time, they hop…

This study looks at 10 adults over 50 with hearing loss and one weak balance ear. It compares implanting the device in the weak-balance ear versus the good-balance ear. The goal is to see if choosing the weaker side helps reduce dizziness after surgery.

This study looks at whether the two-minute step test is a reliable way to measure aerobic endurance in people with hemophilia. Researchers will test 35 people aged 6–18 with hemophilia A or B, comparing the step test with other measures like walking tests and balance assessments.…

This study will follow about 70 people with hemophilia A who are already taking emicizumab to prevent bleeding. Researchers will use ultrasound to check for early joint damage in elbows, knees, and ankles that are currently healthy. The goal is to see how often joint damage appea…

This study follows 75 young adults with severe hemophilia who were part of an earlier study as teens. Researchers want to see if their healthcare habits change as they become adults and what factors help them stick to treatment. The goal is to understand how to support a smooth t…

This study will look at how common von Willebrand disease is among children in Upper Egypt, what symptoms they have, and how they are treated. Researchers will review medical records and lab tests from 25 children aged 0-18 with suspected or confirmed VWD. The goal is to improve …

This study will enroll 70 Egyptian children with hemophilia to see if an oral health education program improves their dental health and quality of life. The program teaches proper oral care based on guidelines from dental and hemophilia organizations. Researchers will measure cav…

This study will compare MRI scans with standard X-rays to see which method better detects knee joint damage in adults with hemophilia who have had repeated bleeding in the knee. Researchers will use special scoring systems to measure early and advanced joint changes. The goal is …