X-linked disease

This study tests a new approach for people receiving a stem cell transplant from a partially matched family donor. The donor's immune cells (T cells) are modified in the lab to include a 'suicide gene' that can be activated by a drug if the cells attack the patient's body, causin…

This trial tests whether specially modified T cells from a partially matched donor can help patients recover their immune system faster after a stem cell transplant. The T cells are engineered with a 'suicide gene' that allows doctors to destroy them if they cause graft-versus-ho…

This study tracks adults with hemophilia A who choose to take Jivi, a longer-lasting clotting factor that requires fewer injections. Researchers will use ultrasound to see if joint health stays the same or improves after 24 months of treatment. The goal is to learn how well Jivi …

This study tests fitusiran, a monthly injection, in boys aged 1 to under 12 with severe hemophilia A or B who have developed inhibitors (antibodies that block standard treatment). The goal is to find the right dose to safely lower a protein called antithrombin, which helps preven…

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This early-stage trial tests whether a single infusion of donated mesenchymal stem cells is safe for children with cerebral adrenoleukodystrophy (cALD), a rare and life-threatening brain disease. The stem cells are given as a temporary bridge to buy time before a more definitive …

This study tests a daily injection called concizumab in children under 12 with hemophilia A or B, with or without inhibitors. The goal is to see if it safely prevents bleeding episodes. Participants receive daily shots under the skin for at least 2 years, and the study tracks how…

This long-term study tests the safety and effectiveness of bitopertin (DISC-1459) in people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight exposure. About 230 participants who previously took bitoper…

This clinical trial is testing whether dimethyl fumarate, a drug already used for multiple sclerosis, can improve balance and walking in adults with adrenomyeloneuropathy (AMN), a rare nerve disease. Forty participants will take either the drug or a placebo daily for 36 months, w…

This study follows 30 people with hemophilia A or B (without inhibitors) in Japan who are already using Alhemo (concizumab) as part of their routine care. Researchers will monitor side effects and how well the drug works over about 2 years per person. The goal is to see if Alhemo…

This study tests a one-time gene therapy called BAY2599023 for adults with severe hemophilia A. The therapy uses a harmless virus to deliver a working copy of the factor VIII gene, so the body can produce its own clotting factor. The trial involves 11 participants and aims to fin…

This Phase 3 trial tests whether bitopertin, a daily pill, can help people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) spend more time in sunlight without pain. About 183 participants aged 12 and older will take bitopertin or a placebo for 6 months. …

This study tests a drug called concizumab, given as a daily shot under the skin, to prevent bleeding in people with hemophilia A or B who have inhibitors (antibodies that block standard treatment). About 134 participants either start concizumab right away or continue their usual …

This phase 3 trial tests a lab-made clotting factor VIII in 60 people with severe hemophilia A. The treatment is given on-demand for new bleeding episodes or before surgery. The goal is to see if it safely and effectively stops bleeding and supports surgical recovery.

This study tests a gene therapy called NGN-401 in 33 girls with Rett syndrome, a rare genetic disorder that affects development and movement. The therapy delivers a working copy of the MECP2 gene to try to improve skills and daily function. Researchers will measure success by whe…

This study tests a medicine called concizumab for people with hemophilia A or B who do not have inhibitors. The goal is to see if a daily shot under the skin can prevent bleeding episodes safely. About 156 participants, aged 12 and older, will either start concizumab right away o…

This Phase 3 trial tests a cell therapy called deramiocel (CAP-1002) in 106 boys and young men with Duchenne muscular dystrophy. Participants receive either the cell therapy or a placebo every 3 months for a year, then all can receive the therapy for another year. The goal is to …

This early-stage trial is testing a new drug called IDE161, alone or with the immunotherapy pembrolizumab, in adults with advanced solid tumors (like breast, ovarian, prostate, or lung cancer). The main goals are to check safety, find the right dose, and get a first look at wheth…

This study tests a one-time gene therapy for adult men with moderate to severe hemophilia B, a bleeding disorder. The therapy delivers a working gene to help the body produce a clotting protein called Factor IX. Researchers will track how many bleeding episodes participants have …

This study tests a one-time gene therapy (PF-07055480) in 77 adult men with moderately severe to severe hemophilia A. The goal is to see if the treatment can reduce or prevent bleeding episodes compared to their usual factor VIII infusions. Participants receive a single IV dose a…

This phase 2 study tests a drug called MAS825 in 17 people with rare genetic conditions that cause severe inflammation. The goal is to see if the drug can prevent disease flares better than a placebo. Participants will be monitored for safety and effectiveness over several period…

This study tests a gene therapy (PF-06838435) for people with severe hemophilia B, a bleeding disorder. The therapy uses a harmless virus to deliver a working gene for clotting factor IX. Researchers are following 21 participants long-term to see if it is safe and reduces bleedin…

This early-stage trial is testing a single-dose gene therapy called GS1191-0445 in 7 Chinese adults with severe hemophilia A. The therapy uses a harmless virus to deliver a working gene to the liver, so the body can produce its own clotting factor. The main goal is to check safet…

This study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…

This study tests whether a once-weekly medication (efanesoctocog alfa) can improve or prevent joint damage in 37 people with moderate or severe hemophilia A. Participants receive the drug for 12 months, and doctors use ultrasound and MRI to check joint health. The goal is to see …

This Phase IV study is testing emicizumab (Hemlibra) in 136 people aged 13 to 70 with moderate or severe hemophilia A who do not have inhibitors. The goal is to see if this drug, given as a shot under the skin, can improve joint health, increase physical activity, and enhance ove…

This phase 3 trial is testing a new form of factor VIII (rVIII-SingleChain) in 60 Chinese men with severe hemophilia A. The goal is to see how well the drug works to prevent and treat bleeding episodes when given 2-3 times per week. Researchers will also check how the body proces…

This study is testing a medicine called emicizumab (Hemlibra) in babies from birth to 12 months old with severe hemophilia A. The goal is to see if a weekly or biweekly shot under the skin can prevent bleeding episodes and protect joints. About 55 infants will receive the drug fo…

This trial tested a gene therapy called AT132 for X-linked myotubular myopathy (XLMTM), a rare muscle disease present at birth that causes severe breathing problems. The therapy aimed to deliver a healthy copy of the MTM1 gene to improve muscle function. However, the study was st…

This study tracks the safety of Hympavzi (marstacimab) in 50 people with hemophilia A or B who do not have inhibitors. Participants receive weekly injections to help control bleeding. The main goal is to monitor any side effects in real-world use.

This study tests a bone marrow transplant method that avoids harsh chemotherapy and radiation for people with dyskeratosis congenita, a genetic disorder causing bone marrow failure. The goal is to fix the blood system without worsening lung or liver disease or raising cancer risk…

This study tests a one-time gene therapy (valoctocogene roxaparvovec) in 6 Japanese men with severe hemophilia A. The goal is to help their bodies produce their own clotting factor, reducing or stopping the need for regular factor VIII infusions. Participants will be monitored fo…

This 48-month study observes 427 people with hemophilia A who are already using Elocta to prevent bleeding. Researchers want to see how well the drug protects joints over time, including how many joint bleeds occur and whether target joints improve or worsen. The goal is to under…

This early-phase study is testing whether stem cell therapies and experimental drugs can help repair inner ear damage in people with hearing loss or tinnitus. Researchers will monitor 120 adults over time using hearing tests and symptom surveys. The goal is to see if these regene…

This study tests a fully implanted cochlear implant called Acclaim CI in 56 adults with severe to profound hearing loss. The goal is to see if it helps them hear words better than before and to check for any medical problems. Participants get the implant and are followed for up t…

This study tests whether a personalized, data-driven hearing rehabilitation program can improve hearing, thinking, and quality of life in older adults with mild to moderate hearing loss. Two hundred first-time hearing aid users will be randomly assigned to either the new personal…

This study looks at whether switching to low-dose emicizumab can improve joint health and reduce bleeding in people with hemophilia A who still have joint problems despite standard factor VIII therapy. Eighteen patients aged 8-28 from Thailand were enrolled. Those with worse join…

This early-phase trial tests a single injection of a gene therapy called RTx-015 in 10 adults with retinitis pigmentosa or choroideremia, two inherited conditions that cause vision loss. The therapy delivers a gene that makes retinal cells produce a light-sensitive protein, poten…

This phase 2 trial tests the drug tiratricol (Triac) in 22 young boys (up to 30 months old) with MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome. The goal is to see if the drug can improve brain development and reduce harmful thyroid effects in the body. Participants…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This phase 3 trial tests fitusiran, an injectable drug, in 91 males aged 12 and older with severe hemophilia A or B, with or without inhibitors. Participants first receive standard care for 6 months, then switch to fitusiran for about 3 years. The goal is to see if fitusiran redu…

This study aimed to see if the drug bitopertin is safe for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who also have early signs of liver disease. Researchers planned to check for side effects and measure changes in protoporphyrin levels in bl…

This study checks the long-term safety and effectiveness of a one-time gene therapy (BMN 270) for people with severe hemophilia A. Participants from earlier BioMarin trials will be followed for many years to see if the treatment continues to work and remains safe. The goal is to …

This study follows about 60 males with hemophilia A who are already using Esperoct to prevent bleeds. Researchers will track side effects and how well the medicine controls bleeding over 5-7 years. Participants continue their normal treatment and clinic visits, with no extra proc…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

This study looks at the long-term safety and effectiveness of a drug called fitusiran in people with hemophilia A or B, including those with inhibitors that make standard treatments less effective. The main goal is to see if fitusiran is safe over time and if it reduces bleeding …

This early-stage trial tests a gene therapy for adults with severe hemophilia A who have or had Factor VIII inhibitors. Doctors take the patient's own blood stem cells, add a gene that makes Factor VIII, and return the modified cells. The goal is to see if this approach is safe a…

This Phase II trial tests a stem cell transplant from unrelated or partially matched family donors for children and young adults with severe immune deficiencies. The stem cells are specially processed to remove certain immune cells, aiming to reduce complications. The goal is to …

This study follows about 200 people with hemophilia A who are already taking a medicine called efanesoctocog alfa as part of their routine care. Researchers want to see how well it protects joints from bleeding over 5 years. No new treatments are given—just observation of real-wo…

This trial tests a gene therapy called OTL-103 for people with Wiskott-Aldrich syndrome, a rare genetic disorder that weakens the immune system and causes bleeding. The therapy uses the patient's own blood stem cells, modified in a lab to carry a working copy of the faulty gene, …

This Phase 3 trial tests a new drug called KN057, given as a weekly injection, to prevent bleeding in people with hemophilia A or B who do not have inhibitors. The study includes 125 males aged 12 to 70 with severe or moderately severe hemophilia. Participants are split into grou…

This study tests a weekly injection called KN057 to see if it can prevent bleeding episodes in people with hemophilia A or B who have developed inhibitors (antibodies that block standard treatment). About 53 male participants aged 12 to 70 will be randomly assigned to receive KN0…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study looks at whether pramipexole, a drug used for restless leg syndrome, can ease leg symptoms in women with X-linked adrenoleukodystrophy (ALD). About 24 women will take the drug or a placebo for two months. The goal is to see if it improves sleep, walking, and quality of…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study tests whether a training method that briefly restricts blood flow to the leg muscles can help reduce knee pain in people with hemophilia. Twelve participants will try both the real blood flow restriction and a sham version to compare effects. The goal is to see if this…

This study looks at how the drug Jivi (damoctocog alfa pegol) works for people with hemophilia A in real-world settings, not just in controlled trials. Researchers are tracking bleeding episodes, side effects, and how satisfied patients and doctors are with the treatment. About 3…

This study follows 62 people with hemophilia A who are already using Jivi (a long-acting clotting factor) to prevent bleeding. Researchers will track safety events like side effects and lab changes over at least 4 years during routine doctor visits. The goal is to better understa…

This study looks at X-linked juvenile retinoschisis (XLRS), a rare inherited eye disease that causes vision loss in young males. Researchers will examine 351 participants, including affected males and female carriers, using eye exams, retinal photos, and genetic tests. The goal i…

This study tracks the safety and effectiveness of the drug Alhemo (concizumab) in 23 people with hemophilia A or B in Japan. Participants receive the drug as part of their normal care, and researchers will monitor side effects for about 2 years. The goal is to see how well Alhemo…

This study surveys 350 adults with hemophilia to better understand chronic pain—its type, location, and impact on daily life. Participants fill out questionnaires about their pain history, medication use, and emotional well-being. The goal is to help doctors recognize and treat p…

This observational study follows 782 people with X-linked hypophosphatemia (XLH), a rare genetic bone disease, to understand how the condition changes over time. It also monitors the long-term safety and effectiveness of the drug burosumab. No new treatment is given; participants…

This study looks at whether measuring the amount of emicizumab in the blood can help predict bleeding risk in people with severe hemophilia A. Researchers will follow 100 adults and children who are already taking emicizumab and track any bleeding events over about a year. The go…

This study aimed to compare two standard treatments for severe hemophilia A in children: extended half-life factor VIII and non-factor VIII therapies. Researchers planned to measure how well each treatment prevented bleeding and protected joint health using ultrasound. However, t…

This observational study will follow 384 patients in Brazil who are using cannabis-based products (like CBD or THC oils) prescribed by their own doctors for chronic pain, anxiety, or depression. Researchers will not provide the medication but will track patients' quality of life,…

This study is observing 500 male patients aged 12 and older with severe hemophilia A or B across China. Researchers are collecting data on treatment patterns, costs, and quality of life to understand the true burden of the disease. The goal is to identify gaps in care and help im…

This study follows 207 people with hemophilia A who are already taking ADYNOVI/ADYNOVATE to prevent bleeding. Researchers want to see if any long-term side effects appear during normal use. The goal is to gather safety information, not to test if the drug works.

This study planned to test whether playing specially designed video games at home could improve the ability of older adults with high-frequency hearing loss to understand speech in noisy environments. Participants would have played either an immersive audiomotor game or an audito…

This study collects information from doctors and patient groups across Asia and the Pacific to better understand how haemophilia affects people in the region. No treatments or medications are given; instead, researchers will analyze data on how many people have the condition, how…

This study gathers safety information from a European registry for people with haemophilia A who are treated with turoctocog alfa pegol. Researchers will count any side effects reported to the registry that might be linked to the drug. About 50 participants are involved, and ther…

This study follows 226 people with X-linked hypophosphatemia (XLH) for up to 10 years. Researchers will collect data on height, walking ability, fractures, and overall health to better understand how the disease progresses and affects daily life. No new treatment is being tested;…