X-linked disease

This study is testing a new medicine called efanesoctocog alfa in about 90 people aged 12 and older with severe hemophilia A. Participants receive a weekly injection for 24 months to see if it helps them be more physically active and improves joint health. The study uses activity…

This study tested the safety of Jivi (BAY 94-9027), a longer-lasting clotting factor, in 36 children aged 7 to 12 with severe hemophilia A. The medicine is already approved for older patients, but this trial focused on younger kids to check for allergic reactions and whether the …

This Phase 2 trial tested whether oral cimetidine (Tagamet), a common heartburn drug, can reduce light sensitivity in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP). These genetic conditions cause severe pain from sunlight exposure. The study en…

This study tested a new cochlear implant (CI632) in 10 adults who have some low-frequency hearing but poor high-frequency hearing. The goal was to see if the implant improves speech understanding and overall hearing. Participants received the implant and were followed to measure …

This study tested whether injecting bevacizumab (a drug that blocks blood vessel growth) into the joints of people with hemophilia can prevent repeated bleeding episodes. Eighteen participants with chronic synovitis (joint inflammation) received the injection. Researchers measure…

This Phase 3 study tested an ointment called TMB-001 in 153 people aged 6 and older with X-linked or ARCI ichthyosis, conditions that cause dry, scaly, and cracked skin. Participants applied the ointment or a placebo daily for 12 weeks, with some continuing for maintenance. The g…

This study tested whether giving only calcitriol (a form of vitamin D) to 16 children and adults with X-linked hypophosphatemia (XLH) could raise blood phosphate levels and improve bone growth without causing kidney stones. Participants took increasing doses of calcitriol for one…

This study tested an experimental drug called KIO-301, given as an injection into the eye, in 32 adults with retinitis pigmentosa or choroideremia—two inherited conditions that cause progressive vision loss. The main goal was to check safety and tolerability at increasing doses. …

This completed phase 2 trial tested a drug called foscenvivint in just 5 people with liver cirrhosis caused by HIV and hepatitis C co-infection who also have hemophilia. The goal was to see if the drug could improve liver function scores over 24 weeks. Because the study is very s…

This phase 3 study looked at what happens when males with MCT8 deficiency (a rare genetic condition affecting thyroid hormone transport) stop taking tiratricol. Twenty participants who had been stable on tiratricol were randomly assigned to either continue the drug or receive a p…

This study tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

This early-phase trial tested a gene therapy called ZM-01 in 2 boys aged 3 to 18 with X-linked retinoschisis, a rare genetic eye condition that causes vision loss. Each boy received an injection of the therapy into one eye. The main goal was to check safety, but researchers also …

This phase 3 trial tested emicizumab (Hemlibra) in 85 people with hemophilia A, a condition where blood doesn't clot properly, causing frequent bleeds. Participants received either emicizumab injections or no preventive treatment. The study found that those on emicizumab had sign…

This completed Phase 1 trial tested the safety of a new drug called Inno8 in 95 healthy men. Participants received either Inno8 or a placebo by injection or as tablets. The study measured side effects and how the drug moves through the body. Results will help decide if Inno8 shou…

This phase 3 trial tested a one-time gene therapy called AMT-061 in 67 men with severe or moderately severe hemophilia B. The therapy uses a harmless virus to deliver a working copy of the gene for clotting factor IX, so the body can produce its own. The main goal was to see if i…

This study tested a drug called ataluren in 360 boys with Duchenne muscular dystrophy caused by a specific genetic mistake (nonsense mutation). The main goal was to see if ataluren could help them walk farther over 72 weeks compared to a placebo. All participants were also taking…

This study tested whether hydroxychloroquine, a drug used for malaria and autoimmune conditions, can safely reduce blood and protein in the urine of children with X-linked Alport syndrome, a genetic kidney disease. Fifty children aged 3 to 18 with stable kidney function took the …

This study tested a medicine called emicizumab in 73 people with mild or moderate hemophilia A who do not have inhibitors. The goal was to see if it safely reduces the number of bleeding episodes. Participants received regular injections, and the results showed fewer bleeds compa…

This study tested a medicine called turoctocog alfa pegol (N8-GP) in 36 Chinese men with severe hemophilia A, a bleeding disorder. The drug helps blood clot and was given as an injection to prevent or stop bleeding episodes. The trial lasted about 7-8 months and measured how many…

This trial tested a long-acting clotting factor called N8-GP in 124 young children (under 6 years old) with severe hemophilia A who had never been treated before. The goal was to see if it safely prevents and treats bleeding episodes. The study found that N8-GP helped control ble…

This study tested a new medicine called Mim8 for people with hemophilia A, a condition where blood doesn't clot properly. Mim8 is given as a shot under the skin to help prevent bleeding episodes. The trial included 275 healthy volunteers and people with hemophilia A, with or with…

This study tested a new medicine called Mim8 in 281 adults and teens with hemophilia A, including those whose bodies make antibodies that block standard treatment. Mim8 helps replace the missing clotting factor and is given as a weekly or monthly injection under the skin. The goa…

This study looked at how safe it is for people with hemophilia A to switch from their current medicine (emicizumab) to a new one called Mim8. Mim8 helps prevent bleeding episodes by doing the job of the missing clotting factor. The study included 61 adults and teens who received …

This early-phase study tested a new drug called MG1113, given as a shot under the skin, in 15 adults with severe hemophilia A or B. The main goal was to check safety and how the drug moves through the body. Participants received multiple doses to see if the drug is well-tolerated…

This study tested a new scoring method to help doctors choose the best dosing schedule of Jivi (a longer-lasting clotting factor) for people with hemophilia A. 21 participants switched from standard treatments to Jivi, and their dose frequency was based on their personal risk sco…

This study tested a new medicine called Mim8, given as a shot under the skin, to prevent bleeding episodes in children aged 1-11 with hemophilia A (with or without inhibitors). The trial involved 70 participants and compared once-weekly and once-monthly dosing over about 54-98 we…

This study looked at how safe and effective Kovaltry is for people with hemophilia A when used in routine medical practice. Researchers tracked 230 patients for side effects and bleeding episodes. The goal was to gather real-world information, not to test a new treatment.

This study tested a one-time gene therapy (valoctocogene roxaparvovec) in 22 adults with severe hemophilia A. The treatment aims to help the body produce its own clotting factor VIII, reducing the need for regular infusions. Participants also received steroids to manage immune re…

This study tested a new gene therapy (SB-525) in 13 adults with severe hemophilia A, a bleeding disorder. The goal was to see if a single infusion could safely raise the body's own clotting factor levels and reduce bleeding episodes. Participants were monitored for up to 5 years …

This early study tested a new clotting factor called efanesoctocog alfa (BIVV001) in 13 adults with severe hemophilia A. The goal was to see how long it stays in the body compared to standard and extended half-life factors. Participants received single injections of each type in …

This phase 3 study tested a new medicine called BIVV001 (efanesoctocog alfa) in 159 people aged 12 and older with severe hemophilia A. The goal was to see if regular injections could prevent bleeding episodes, improve joint health, and enhance quality of life. Participants receiv…

This early-phase trial tested a gene therapy called BAX 888 in 4 men with severe hemophilia A. The therapy uses a harmless virus to deliver a working gene for factor VIII, a blood-clotting protein they lack. Participants received a single intravenous infusion, and the study focus…

This study tested a new drug called BIVV001 in 74 children under 12 with severe hemophilia A, a condition where blood doesn't clot properly. The drug is given through a vein and aims to prevent bleeding episodes. The trial found that the drug was safe and effective at reducing bl…

This study looked at how the drug emicizumab (Hemlibra) works in real-world settings for infants and children up to 3 years old with hemophilia A, a bleeding disorder. Researchers tracked 71 children to see how many were using emicizumab to prevent bleeds and whether any breakthr…

This study tested a drug called MT-7117 in 165 adults and adolescents (ages 12-75) with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), conditions that cause severe pain from sunlight exposure. The goal was to see if the drug could delay the first symptoms o…

This study tested whether a 6-month adapted physical activity program could improve functional capacity in people with hemophilia. Fourteen participants did exercises twice a week to improve joint mobility, strength, and balance. The main goal was to see if their walking distance…

This study tested whether a low-cost version of platelet-rich plasma (PRP) injections could safely ease joint pain and swelling in people with bleeding disorders like hemophilia. Fourteen adults with joint damage received the injection and were followed for 6 months. The goal was…

This study tested two strengths of a topical isotretinoin ointment (TMB-001) in 34 people aged 9 and older with congenital ichthyosis, a rare genetic skin condition causing severe scaling. The main goal was to see if the ointment could reduce scaling by at least 50% compared to a…

This study tested a physical therapy technique that uses a cuff to slightly restrict blood flow during exercise. The goal was to see if it could safely improve muscle strength and reduce pain in people with hemophilia who have ankle joint damage. 31 adults with hemophilia A or B …

This study tested a personalized program of exercise and manual therapy (like stretching and massage) in 10 adults with severe hemophilia who had multiple damaged joints. The goal was to see if it could reduce pain, improve joint movement and strength, boost heart-lung fitness, a…

This study looked at whether a special low-intensity exercise program, using blood flow restriction cuffs, is safe and helpful for people with moderate or severe hemophilia. Twenty adults completed 8 weeks of arm and leg exercises. Researchers measured changes in muscle function,…

This study looked at whether manual therapy (hands-on treatment) and structured exercises could improve balance and walking ability in adults with hemophilia. Thirty-five adults with moderate or severe hemophilia took part. Half received 12 physiotherapy sessions over 6 weeks, wh…

This study tested whether metformin, a common diabetes medication, can help improve language, behavior, and weight problems in people with fragile X syndrome. 125 participants aged 6 to 35 took either metformin or a placebo for 4 months. Researchers measured changes in language s…

This study tested a drug called MT-7117 in 184 people aged 12 to 75 with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight. The goal was to see if the drug could delay the first signs of sun sensitivity (bur…

This study tested a daily dietary supplement called ACEMg (Soundbites) in 64 adults with hearing loss or tinnitus. Participants took the supplement for 24 weeks and completed hearing tests and symptom surveys at home using a smartphone app. The goal was to see if the supplement c…

This completed study tested whether adding gastrodin acupoint injections to standard care helps people with sudden hearing loss and vertigo. One hundred adults received either standard therapy alone or standard therapy plus injections into specific acupuncture points over four we…

This study looked at 324 people with hearing loss and an inner ear problem called enlarged vestibular aqueducts. Researchers collected DNA, hearing tests, and scans to find genes that may cause the condition. The goal was to learn more about why it happens, not to test a treatmen…

This study tested a new drug called efanesoctocog alfa in 24 adults with severe hemophilia A. Researchers compared how long it stays in the body versus two existing drugs. Participants received one dose of their usual drug, then later one dose of the new drug, with blood samples …

This study aims to find the genetic causes of hereditary hearing loss and balance disorders. Researchers will study families with these conditions, collecting medical history, blood or cheek swabs, hearing and balance tests, and sometimes scans. The goal is to identify genes and …

This completed study observed how 329 Iraqi male patients with haemophilia A used turoctocog alfa (a clotting factor) in their daily care. Researchers reviewed medical records to see how the drug was given and how many bleeding episodes occurred. The goal was to describe real-wor…

This study tests a new medicine called Inno8 for hemophilia A. Researchers want to see how eating and drinking before and after taking the pill changes how much medicine gets into the blood. 80 healthy men aged 18-45 will take one dose after fasting, then wait different times bef…

This study watched 23 people with hemophilia A who were already using Esperoct as part of their normal care. Researchers tracked side effects and how well the medicine worked over about two years. The goal was to confirm the drug's safety and effectiveness in everyday use, not to…

This study looked at bone density in 448 men with hemophilia and healthy volunteers to see how common bone loss is. Participants had a bone density scan and some gave blood samples. The goal was to understand if hemophilia itself, not just lack of activity, leads to weaker bones.

This completed observational study looked at boys aged 7-18 with moderate or severe hemophilia A in Canadian treatment centres. Researchers compared quality of life and caregiver burden between those receiving an intravenous factor replacement product and those on a subcutaneous …

This study looked at 15 people with a rare genetic condition called DDX3X syndrome, which can cause intellectual disability and sometimes autism. Researchers used interviews, play-based assessments, and genetic tests to better understand the condition. The goal was to describe th…

This study looked at whether hearing and vision loss are linked to delirium (sudden confusion) in older hospital patients. Over 1,500 participants answered screening questions and had their hearing and vision tested. In a smaller trial, researchers tested if posting communication…

This completed study enrolled 186 people with mild to moderate hearing loss to understand how damage to inner ear sensory cells and auditory neurons affects speech understanding, especially in noisy environments. Participants were fitted with hearing aids and tested on speech rec…

This study looked at why people with hemophilia and damaged knee or ankle joints feel ongoing pain. Researchers measured pain sensitivity, fear of movement, and anxiety in 146 adults. The goal was to better understand central sensitization—a condition where the nervous system sta…

This study looked at how the COVID-19 lockdown changed the health habits and medical care of 1,343 people with chronic conditions like heart disease, multiple sclerosis, and hemophilia. Researchers used phone surveys to track medication use, lifestyle changes, and access to healt…

This study measured static and dynamic balance in 41 adults with hemophilia and 40 healthy volunteers using a special platform. Researchers also looked at how joint health, physical activity, and fear of movement affect balance. The goal is to understand why balance may be worse …

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study gathered information on how often adults with moderate to severe hemophilia A or B experience bleeding while on their usual treatment. The data will be used as a baseline for future gene therapy studies. About 212 participants took part, and no experimental treatment w…

This study tested whether a new pen injector delivers the drug Mim8 into the blood as well as a standard syringe and cartridge. 205 healthy men received a single injection of Mim8 using either the pen or the syringe. The goal was to see if the pen works just as well, making it ea…

This completed study from Hacettepe University compared lung function, exercise capacity, posture, and physical activity levels between 34 children with hemophilia and healthy controls. Researchers used spirometry, cycling tests, and joint health scores to see if hemophilia affec…