Clinical Trials for Osteogenesis Imperfecta
There are currently 5 ongoing clinical trials investigating treatments for osteogenesis imperfecta (also known as brittle bone disease). These studies are testing various approaches including medications that work by different mechanisms, stem cell therapy, and combination treatments, with trials taking place across multiple European countries.
Clinical trial locations
- Bulgaria
- Denmark
- France
- Germany
- Ireland
- Italy
- Netherlands
- Study Comparing Setrusumab and Bisphosphonates for Children with Osteogenesis Imperfecta
- Study on Setrusumab for Patients with Osteogenesis Imperfecta (Brittle Bone Disease)
- Study on the Safety and Effectiveness of BOOST Cells for Treating Severe Osteogenesis Imperfecta in Children Before and After Birth
- Study on Treating Osteogenesis Imperfecta in Patients Using Teriparatide and Zoledronic Acid
- Poland
- Portugal
- Sweden
Study on Losartan and Hydrochlorothiazide for Osteogenesis Imperfecta in Patients Aged 16 and Above
This study is investigating whether losartan, a medication usually used to treat high blood pressure, can help improve bone health in people aged 16 years and older. The trial aims to find the best dose of losartan that can reduce a specific marker in the blood that indicates bone breakdown. Participants will receive the medication for six months while researchers monitor changes in their bone health.
Main inclusion criteria: Participants must be at least 16 years old and have a diagnosis of any type of osteogenesis imperfecta. Those who have previously received certain bone treatments, such as oral bisphosphonates for up to 6 weeks or single doses of intravenous bisphosphonates or denosumab, may be eligible if enough time has passed since their last treatment. Women of childbearing potential must agree to use effective birth control during the study. Participants should not be taking any medications that interfere with the study and must not have other health conditions that would make participation unsafe.
Main exclusion criteria: People under 16 years old cannot participate. Pregnant or breastfeeding women, those with severe kidney or liver problems, and individuals who have had a recent heart attack or stroke are excluded. Patients currently taking medications that might interfere with the study drug, those with a history of allergic reactions to similar medications, and individuals unable to follow study procedures are also excluded.
Trial focus: The study focuses on determining the effective dose of losartan for reducing bone resorption markers in patients with osteogenesis imperfecta. Researchers will measure changes in blood markers related to bone health at baseline and at weeks 8 and 24. The trial will also assess bone density, bone structure, physical performance, and quality of life throughout the treatment period.
Investigational drug: Losartan is an angiotensin II receptor blocker that works by relaxing blood vessels and may also influence bone metabolism. It is administered orally in tablet form and is being studied for its potential to reduce bone breakdown and improve bone strength.
Study Comparing Setrusumab and Bisphosphonates for Children with Osteogenesis Imperfecta
This trial is comparing two different treatments for young children with the condition. Participants will receive either setrusumab, a newer medication being investigated, or bisphosphonates, which are established medications used to strengthen bones. The study aims to determine which treatment is more effective at reducing fractures and improving bone health.
Main inclusion criteria: Children between 2 and just under 7 years old with a clinical diagnosis of osteogenesis imperfecta types I, III, or IV, confirmed by genetic testing showing mutations in the COL1A1 or COL1A2 genes. They must have a history of at least 1 fracture in the past year, at least 2 fractures in the past 2 years, or at least 1 fracture in major bones like the femur, tibia, or humerus in the past 2 years. Children must either currently be receiving or have previously received intravenous bisphosphonate therapy. Vitamin D levels must be at least 20 ng/mL at screening, though supplementation is allowed to reach this level.
Main exclusion criteria: Children with conditions other than osteogenesis imperfecta, those outside the specified age range, individuals unwilling or unable to follow study procedures, those with other interfering medical conditions, current participants in other clinical trials, children scheduled for major surgery, pregnant or breastfeeding individuals, those with allergies to study medications, individuals with a history of substance abuse, and those with certain abnormal laboratory results cannot participate.
Trial focus: The study compares the effectiveness of setrusumab versus bisphosphonates in reducing fracture rates, including spinal fractures. Researchers will monitor bone density and structure changes, physical performance, and quality of life over the course of treatment. The trial includes regular follow-up assessments to track fracture occurrence and overall bone health improvements.
Investigational drugs: Setrusumab is a monoclonal antibody that targets specific proteins affecting bone strength and is administered either intravenously or subcutaneously. Bisphosphonates, such as zoledronic acid or pamidronate disodium, work by slowing down bone breakdown and are given through intravenous infusion to help strengthen bones and prevent fractures.
Study on Setrusumab for Patients with Osteogenesis Imperfecta (Brittle Bone Disease)
This two-phase study is testing setrusumab, a monoclonal antibody designed to reduce bone breakdown. In the first phase, researchers will test different doses to find the most effective one. In the second phase, participants will receive either setrusumab or a placebo to determine how well the medication reduces fracture rates compared to no active treatment.
Main inclusion criteria: Participants must be between 5 and 25 years old with a diagnosis of osteogenesis imperfecta type I, III, or IV, confirmed by genetic testing showing changes in the COL1A1 or COL1A2 genes. They must have experienced at least one fracture in the past year, at least two fractures in the past two years, or at least one fracture in major leg or arm bones in the past two years. Blood vitamin D levels must be at least 20 ng/mL, though supplementation is permitted. Participants must agree not to receive bisphosphonate therapy during the study and, if of reproductive age, must use highly effective birth control. They must be willing to provide access to medical records and attend all study visits.
Main exclusion criteria: Individuals with conditions other than osteogenesis imperfecta, those outside the specified age range, and members of vulnerable populations cannot participate.
Trial focus: The study evaluates the safety and effectiveness of setrusumab in reducing fracture rates in patients with osteogenesis imperfecta. Phase II focuses on determining the optimal dose by observing changes in blood markers related to bone health. Phase III compares fracture rates between those receiving setrusumab and those receiving placebo. Regular monitoring includes bone density assessments, fracture tracking, and blood tests to measure medication levels and potential antibody formation.
Investigational drug: Setrusumab is a monoclonal antibody administered through intravenous infusion. It works by inhibiting a protein that affects bone formation and strength, potentially increasing bone density and reducing fractures.
Study on the Safety and Effectiveness of BOOST Cells for Treating Severe Osteogenesis Imperfecta in Children Before and After Birth
This innovative trial is testing a stem cell therapy called BOOST cells for children with severe forms of the condition. The treatment involves cells derived from fetal mesenchymal stem cells that are intended to help strengthen bones. The study is examining whether these cells can be safely given to young children, either after birth or both before and after birth.
Main inclusion criteria: Children under 18 months old with a clinical diagnosis of osteogenesis imperfecta type III or severe type IV, confirmed by genetic testing showing mutations in the COL1A1 or COL1A2 genes. A parent or legal guardian must sign an informed consent form and be over 18 years old.
Main exclusion criteria: Children without osteogenesis imperfecta type III or severe type IV, those outside the specified age range, individuals unable to receive intravenous treatment, patients with other interfering medical conditions, those unable to follow study procedures or attend visits, pregnant individuals or those planning pregnancy during the study, recent participants in other clinical trials, and those with allergies to the treatment or its components cannot participate.
Trial focus: The primary goal is to assess the safety and tolerability of BOOST cell therapy in young children with severe osteogenesis imperfecta. The study monitors treatment-related adverse events, including their severity and frequency. Secondary assessments include tracking fracture numbers, time to first fracture after treatment, changes in bone mineral density, growth measurements, and overall clinical status. Biochemical markers related to bone health are also monitored throughout the study period, which extends to 2030.
Investigational drug: BOOST cells are allogeneic fetal mesenchymal stem cells expanded in the laboratory and administered intravenously. This cell-based therapy is designed to aid in bone strength and repair through regenerative medicine approaches. Participants receive four doses of the treatment, either after birth or both before and after birth.
Study on Treating Osteogenesis Imperfecta in Patients Using Teriparatide and Zoledronic Acid
This trial is testing a combination treatment approach for adults with the condition. Participants will first receive teriparatide, a medication that helps build bone, for two years, followed by zoledronic acid, which helps maintain bone strength. The study aims to determine whether this sequential treatment can effectively reduce fracture rates compared to standard care.
Main inclusion criteria: Adults aged 18 years and older with a clinical diagnosis of osteogenesis imperfecta who are willing and able to give informed consent and follow study guidelines.
Main exclusion criteria: Individuals without a confirmed diagnosis, those outside the specified age range, participants unwilling to follow study procedures or take study medications, those with interfering medical conditions or taking conflicting medications, pregnant individuals or those planning pregnancy during the study, people with a history of allergic reactions to study drugs or similar medications, and recent participants in other clinical trials still within exclusion periods cannot participate.
Trial focus: The study evaluates whether sequential treatment with teriparatide followed by zoledronic acid can reduce fracture rates in adults with osteogenesis imperfecta. Participants first receive daily teriparatide injections for two years to stimulate bone growth, then transition to annual zoledronic acid infusions to maintain bone strength. Throughout the study, fractures are monitored using x-rays and other imaging techniques. Additional assessments include bone pain, quality of life, and functional status measured at 12 months, 24 months, and at study completion after approximately 62 months.
Investigational drugs: Teriparatide is a synthetic form of parathyroid hormone administered via subcutaneous injection at a dose of 20 micrograms daily. It works by activating osteoblasts, the cells that build bone, thereby increasing bone density. Zoledronic acid is a bisphosphonate given through intravenous infusion at a dose of 5 mg once yearly. It works by inhibiting osteoclasts, the cells responsible for breaking down bone, helping to maintain bone strength and reduce fracture risk.
Summary
The current landscape of clinical trials for osteogenesis imperfecta shows diverse treatment approaches targeting different age groups and disease severities. Five trials are actively recruiting across ten European countries, with the Netherlands participating in four studies, demonstrating a strong research focus in this country. France, Germany, and Italy each host three trials, while other countries have fewer active studies.
The trials reflect different therapeutic strategies. Three studies are investigating setrusumab, a newer monoclonal antibody approach, suggesting significant interest in this medication. Traditional bisphosphonates remain important, appearing in comparison studies and combination therapies. Innovative approaches include stem cell therapy for the most severe cases affecting young children, and the repurposing of losartan, typically a blood pressure medication, for bone health.
Age groups covered range from prenatal and infant care to adults, with specific trials targeting children aged 2-7 years, youth aged 5-25 years, adolescents and young adults from 16 years, and adults 18 and older. This comprehensive age coverage ensures that research is addressing the needs of patients throughout their lives. The variety of treatments being studied provides hope for more effective management options in the future.
