Clinical Research Directory

A Study to Investigate the Efficacy and Safety of Fitusiran Prophylaxis in Male Participants Aged 1 to Less Than 12 Years With Hemophilia A or B

This is a parallel, Phase 3, two-arm, open-label study to evaluate the efficacy and safety of treatment with fitusiran prophylaxis administered to male pediatric participants (aged 1 to \<12 years) who have severe hemophilia A or B, with or without inhibitory antibodies to FVIII or FIX. Number of participants: Approximately 85 participants will be enrolled into the study: * Approximately 60 fitusiran-naïve participants with severe hemophilia A or B, with or without inhibitors (fitusiran-naïve arm), and * Approximately 25 participants with severe hemophilia A or B with inhibitors rolling over from the EFC15467\* dose confirmation study (roll-over arm). * Fitusiran has been investigated in the pediatric population in study EFC15467, which enrolled male participants aged 1 to \<12 years with hemophilia A or B with inhibitors to examine the safety and tolerability of fitusiran in the pediatric population. Participants will be enrolled into 1 of 2 arms: * Fitusiran-naïve: these participants have not previously received fitusiran, and they will undergo screening and study eligibility assessments. Once enrolled, they will go through a 24-week standard of care (SOC) period before starting fitusiran prophylaxis. * Roll-over participants from the EFC15467 study: only participants who are still on active treatment in study EFC15467 and consenting to study EFC17905 will be eligible to roll over. They will not need to undergo screening or further eligibility assessments. They will directly enroll into the fitusiran treatment period and continue treatment on their current fitusiran dose. The duration of fitusiran treatment will be up to 160 weeks for the fitusiran-naïve arm and up to 60 weeks for the roll-over arm.

3D Ultrasound in Hemophilic Ankles

The study examines whether a mechanical arm ultrasound system provides diagnostic accuracy comparable to expert-performed full ultrasound for detecting key joint components and whether it can reduce acquisition variability without compromising accuracy, as measured by false-positive and false-negative rates.

Tight Control of Treatment Adherence and Efficacy by Telemedicine for an Improved Personalized Management of Patients With Hemophilia

In patients with haemophilia, close monitoring of bleeding with optimal adherence to treatment, a personalised treatment programme and the possibility of early diagnosis of haemarthrosis are essential. The TEMPO project will help advance the state of the art in optimal adherence, rigorous monitoring, and accurate and early diagnosis and management of haemarthrosis by collecting and integrating big data in order to personalise the treatment regimen for each patient, as envisaged by the current model of personalised medicine.

A Study to Learn About the Study Medicine (Called Marstacimab) in People With Hemophilia A or B

The purpose of this non-interventional, observational, real-world study is to find out what are the real-world experiences of people living with hemophilia A or B\[OK1.1\] who start the study medicine (called marstacimab) in routine clinical practice. Hemophilia is a rare genetic condition where the blood does not clot normally, meaning people bleed longer than usual after an injury. This study is seeking participants who are living with hemophilia A or B and: * Have a medical record documenting hemophilia A or hemophilia B. A hematologist must have confirmed the diagnosis before they join the study. * Are under current treatment with marstacimab or have a prescription to start the treatment with marstacimab * Are 6 years of age or older and the recipient of medical care in the United States All participants in this study will receive their usual treatment for hemophilia A or hemophilia B Participants will take part in this study for 1 year. During this time, they will complete up to six surveys. These surveys will be given between enrollment and about one year after marstacimab is started. Some participants in the study may be asked to take part in interviews. During these interviews they will be asked about their experience with hemophilia or marstacimab. The study will provide information about how well the marstacimab treatment works. It will also assess treatment burden, and treatment preferences. This information will help to determine its benefit compared to existing treatment options. It will also help doctors make treatment decisions and optimize hemophilia care.

Validity and Reliability of the Figure-of-Eight Walking and Weight-Bearing Lunge Tests in Hemophilia

Recurrent joint bleeding (hemarthrosis) occurs in 70-80% of cases of hemophilia. The three most frequently affected joints are the synovial joints of the ankle, knee, and elbow. Among these, the ankle and knee are the most common sites of bleeding, accounting for 80% of cases (Stephensen et al., 2009). This susceptibility stems from factors such as the fact that the knee and ankle are weight-bearing joints and are highly exposed to trauma. Hemophilia treatment aims to reduce the frequency of bleeding episodes through prophylactic factor replacement; however, joint bleeding can recur despite treatment, potentially leading to permanent joint damage. This joint disease causes pain, reduced range of motion, and potential impairment of postural balance, while also increasing the risk of falls. Due to its complexity and significance for the individual, gait assessment is a crucial component in evaluating mobility, functional capacity, and rehabilitation progress across various populations, including the elderly, individuals with neurological disorders, and those recovering from injuries. Various clinical tests and technological tools are available to measure different aspects of gait, such as walking ability, endurance, adaptability, and fatigue. Timed walking tests-such as the Timed Up and Go (TUG) test, the 2-Minute Walk Test (2MWT), the 6-Minute Walk Test (6MWT), the 10-Meter Walk Test (10MWT), and the Timed 25-Foot Walk Test (T25FW)-measure gait speed, endurance, and overall walking ability. A common feature of these tests is that they involve walking along a straight path with little to no change in direction; while this makes them effective in standardized clinical settings, they are relatively less suitable for assessing the complex mobility demands of daily life. In contrast, the Figure-8 Walk Test (F8WT) requires continuous changes in direction and turning, thereby challenging anticipatory postural adjustments, spatial navigation, and motor planning. Literature has demonstrated that walking along a curved path challenges dynamic balance and increases gait variability, revealing deficits-particularly in the elderly and in individuals with neurological or cognitive impairments-that are not apparent during straight-line walking. In their daily lives, people frequently encounter curved paths and changes in walking direction-such as walking around a table, turning a corner, or avoiding an obstacle. The ability to successfully adapt one's gait and safely execute turns or changes in direction is fundamental to an individual's mobility and independence. The Timed Up and Go (TUG) test is a widely used, performance-based clinical assessment tool for measuring lower-extremity function, mobility, and fall risk in individuals; its reliability and validity are well-established. The ABC scale is a 16-item measure used to assess balance confidence while performing specific activities both indoors and outdoors; it has also been proven reliable and valid. Among older adults, a score of 76% or lower indicates a risk of falling. The Weight-Bearing Lunge Test (WBLT), which assesses ankle dorsiflexion mobility, has demonstrated excellent test-retest reliability in patients with hemophilia, even in those with limited joint damage. Another test that is reliable and shows strong correlation with other functional measures in individuals with hemophilia is the Four Square Step Test (FSST). The FSST is associated with age rather than the severity of hemophilia and provides clinicians with information regarding the speed and ability to change direction and step over obstacles. The Y Balance Test (YBT) is a dynamic balance and postural control assessment that is increasingly preferred for use with patients with hemophilia in recent years. Since the F8WT requires continuous changes of direction, it demands greater dynamic balance, spatial planning, and gait adaptation. It is important to examine the validity and reliability of the F8WT-which assesses change of direction, dynamic balance, agility, and functional mobility-in patients with hemophilia. The fact that the F8WT is easy to administer, quick to complete, and requires minimal equipment offers significant advantages for clinical use. However, no study evaluating the psychometric properties of this test in patients with hemophilia has been found in the literature. The aim of this study is to investigate the test-retest reliability and construct validity of the F8WT and WBLT in adult patients with hemophilia.

Long-term Safety and Efficacy Study of Fitusiran in Patients With Hemophilia A or B, With or Without Inhibitory Antibodies to Factor VIII or IX

Primary Objective: To characterize the long-term safety and tolerability of fitusiran Secondary Objectives: * To characterize the efficacy and long-term efficacy of fitusiran as assessed by the frequency of: * Bleeding episodes * Spontaneous bleeding episodes * Joint bleeding episodes * To characterize the effects of fitusiran on health-related quality of life (HRQOL) measures in participants ≥17 years of age

Effects of Photobiomodulation in Hemophilia Patients.

Hemophilia is a genetic bleeding disorder that commonly leads to knee hemarthrosis, causing pain, swelling, and reduced joint mobility in children. While standard treatments include clotting factor replacement and physiotherapy, additional non-invasive approaches are being explored. This study aims to evaluate the effects of photobiomodulation on knee hemarthrosis in male hemophilia patients aged 9-14 years. It focuses on determining whether this therapy can reduce pain and swelling and improve joint range of motion when used alongside

Fitusiran Prophylaxis in Male Pediatric Subjects Aged 1 to Less Than 12 Years With Hemophilia A or B

Primary Objective: \- To confirm appropriate dose levels of fitusiran when administered to male pediatric participants (ages 1 to \<12 years of age) with severe hemophilia A or B Secondary Objectives: * To characterize the safety and tolerability * To determine fitusiran plasma concentrations at selected time points

Validity and Reliability of the Two-minute Step Test in Hemophilia

The aim of our study was to evaluate the psychometric properties of the 2-minute step test in hemophilia patients, assess its intra-rater and inter-rater reliability, and evaluate its convergent validity and construct validity supported by measurements of gait, balance, and functionality.

Trial of an Exercise Intervention for Children With Haemophilia

"Being able to participate in games and activities with their friends" is one of the things that matters most to boys with haemophilia. At present, there is a lack of robust evidence to determine whether muscle strengthening exercise can improve or negatively affect outcomes for young children with haemophilia. With the help of boys with haemophilia, their parents and physiotherapists the investigators have developed an exercise programme designed to increase muscle strength. Using this intervention the investigators will undertake a single-blinded, two-arm pragmatic randomised controlled trial (RCT) of a 12-week intervention verses usual care of boys with haemophilia aged 6-12 years of age.

Prevalence of Inhibitor Development in Hemophilia A Patients Receiving Coageight: A Multicenter Cross-sectional Observational Study

This is a cross-sectional, observational, multi-center study to assess the prevalence of inhibitor development in hemophilia A patients receiving Coageight (rFVIII-Fc, AryoGen Pharmed Co.).

Pharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children Per Standard of Care (POPS)

The study investigators are interested in learning more about how drugs, that are given to children by their health care provider, act in the bodies of children and young adults in hopes to find the most safe and effective dose for children. The primary objective of this study is to evaluate the PK of understudied drugs currently being administered to children per SOC as prescribed by their treating provider.

ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders

In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.2,3,4,5 In 2019 alone, the FDA has issued approvals for 24 new therapies for congenital and acquired hematologic conditions.6 In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.7 With this increase in potential new therapies possible, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data. As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.8

Phase III Clinical Trial of STSP-0601 for Injection in Hemophilia Patients

This study will assess the efficacy of multiple-dose of STSP-0601 for the treatment of bleeding episodes in hemophilia A or B patients with inhibitor

Central Pain Mechanisms and Clinical and Psychological Factors Associated With Pain Interference in Daily Life in Adults With Hemophilia and Hemophilic Arthropathy

Introduction. Chronic pain is a frequent complication in adults with hemophilia and hemophilic arthropathy that affects functionality and quality of life. In addition to joint damage, central pain mechanisms and psychological factors may contribute to its functional impact, although evidence in this population is limited. Objective. To analyze the association between central pain mechanisms, pain intensity, and pain-related anxiety and pain interference in daily life in adults with hemophilia and hemophilic arthropathy, adjusting for relevant clinical variables. Methods. An analytical observational study with a cross-sectional design will be conducted in 138 adults with hemophilia and hemophilic arthropathy. The dependent variable will be pain interference in daily life (Brief Pain Inventory), the main predictor variables will be central sensitization (Central Sensitization Inventory), conditioned pain modulation (Conditioned Pain Modulation Index), global pain intensity (severity subscale of the Brief Pain Inventory), and pain-related anxiety (Pain Anxiety Symptoms Scale-20). As secondary predictor variables, sleep quality (Pittsburgh Sleep Quality Index) and pain self-efficacy (Pain Self-Efficacy Questionnaire) will be included. As confounding variables, joint damage, age, type of treatment, and history of inhibitor will be considered. The association between variables will be analyzed using multiple linear regression models adjusted for relevant clinical covariates. Expected results. It is expected to identify factors associated with pain interference in adults with hemophilia and hemophilic arthropathy, improving the understanding of its functional impact.

Safety and Efficacy of FVIIa to Prevent Excessive Bleeding in Hemophilia Patients With Inhibitors Undergoing Major Surgery

This is an interventional, prospective, international, multicenter, single-arm, Phase 3, and sequential efficacy and safety study in adolescents and adults with congenital hemophilia A or B with inhibitors to factor VIII (FVIII) or factor IX (FIX) undergoing elective major surgical procedures.

Topical and Local TXA in Facelifts - A Randomized Controlled Double Blinded Study

Tranexamic acid (TXA) is a fibrinolytic inhibitor which prevents prolonged bleeding by interfering with fibrin clot breakdown by competitively binding to lysine receptors on plasminogen; this prevents the conversion of plasminogen to plasmin. TXA will be applied to a randomly assigned side of the face during facelift surgery. The intervention groups will include 1% TXA mixed with standard local consisting 1/4% lidocaine with 1:100,000 epinephrine, 3% TXA on TXA-soaked pledgets applied for 10 minutes, and 1% TXA with local plus 3% TXA-soaked pledgets. Each treatment arm will be compared to saline in place of TXA on the contralateral side of the face. Although TXA has been widely used in surgical fields for decades and is officially recommended by agencies such as ACOG for use during maternal hemorrhage, its current FDA approval only pertains to oral TXA for heavy menstrual bleeding and IV use for patients with hemophilia to prevent or reduce hemorrhage (cite). The main concern with intravenous TXA is the increased risk for the potential formation of blood clots, mainly in patients with clotting disorders, such as Facor V Leiden, and patients on estrogen containing medication. A recent systemic review with metanalysis by Wang et.al contained a total of 2150 patients receiving IV TXA while undergoing plastic surgery concluded that use of IV TXA does not lead to increased adverse events.\[12\] Given the low rate of adverse events while using TXA systemically, this protocol's application of TXA topically and/or locally negates the risk for any potential systemic adverse effects. No systemic adverse effects have been reported in studies examining local TXA in facial plastic surgery to date.

Effect of Non-Surgical Periodontal Treatment on Oral Health in Hemophilia Patients

This study aimed to evaluate the effect of non-surgical periodontal treatment (NSPT) on oral health-related quality of life in patients with hemophilia using the Oral Health Impact Profile-14 (OHIP-14) questionnaire. In addition, clinical periodontal parameters and demographic characteristics before and after NSPT were assessed and compared with systemically healthy individuals. A total of 71 patients with hemophilia (60 with Hemophilia A and 11 with Hemophilia B) and 75 healthy individuals were included in the study and grouped according to their periodontal status. Demographic data and oral health-related behavioral characteristics were evaluated. Clinical periodontal parameters and OHIP-14 scores were recorded before treatment and at the sixth week after treatment. All collected data were analyzed statistically. The study aims to determine the relationship between periodontal treatment outcomes and oral health-related quality of life in individuals with hemophilia.

Multimodal Telerehabilitation Versus Face-to-Face Care for Adults With Hemophilia and Chronic Pain

Hemophilia is an inherited bleeding disorder that is commonly associated with chronic joint pain, reduced physical function, and decreased quality of life. Pain science education combined with exercise therapy has shown beneficial effects in people with chronic musculoskeletal pain; however, its effectiveness in people with hemophilia remains largely unknown. Telerehabilitation may improve access to rehabilitation by reducing geographical and transportation barriers, but its effectiveness compared with face-to-face delivery has not been established in this population. This randomized controlled non-inferiority trial will compare a 6-week multimodal telerehabilitation program consisting of pain science education and therapeutic exercise with an equivalent face-to-face program in adults with hemophilia and chronic pain. Participants will be randomly assigned to one of the two interventions. Clinical outcomes will be assessed before and after the intervention by an assessor blinded to group allocation. The study aims to determine whether telerehabilitation provides clinical outcomes that are not inferior to those achieved with conventional face-to-face rehabilitation.

Intra-Articular Bevacizumab for Preventing Recurrent Hemarthrosis in Hemophilia With Chronic Synovitis

Hemophilia is an inherited bleeding disorder characterized by deficiency of clotting factors, leading to increased bleeding tendencies. The most common complications are joint bleeds (hemarthroses), which cause chronic changes in joints and ultimately disability. Recurrent hemarthroses often result from chronic synovitis in target joints of patients with hemophilia, a process driven by Vascular Endothelial Growth Factor (VEGF) mediated pathological angiogenesis. Intra-articular administration of Bevacizumab, a VEGF neutralizing monoclonal antibody, may block this process and reduce the frequency of recurrent joint bleeds. This study evaluates the efficacy and safety of intra-articular Bevacizumab for preventing recurrent hemarthrosis in patients with hemophilia and chronic synovitis.

Haemophilia and Bone Loss - PHILEOS Study

Haemophilia is a rare bleeding disorder, characterized by factor VIII (HA) or factor IX (HB) deficiency. The absence or the reduction of fVIII or fIX result in impaired thrombin generation and clot formation, causing excessive bleeding (mainly haemarthrosis). Osteoporosis is a systemic bone disease characterized by a low bone mineral density (BMD). A decrease of mean BMD has been described in haemophilic patients compared to healthy controls in several studies. So, osteoporosis could be an underestimated haemophilia-related comorbidity. None of the following risk factors (reduced physical activity, joint damage, vitamin D deficiency and /or hepatitis C virus (HCV) infection) has been retained as a cause of osteoporosis in haemophilic patients. Another hypothesis is that bone loss could be directly linked to fVIII or fIX and/or thrombin deficiency. The aim of this study is to evaluate the prevalence of the bone loss in HA and B patients, according to the type, the severity and the presence (or not) of a prophylactic treatment (depending on the age at which it was began) and to compare it to a control population. The investigators will also evaluate the relation between BMD and FVIII, fIX and thrombin potential.

Chronic Pain and Hemophilia

Hemophilia (A and B) are X-linked hereditary bleeding disorders whose severity depends on the level of coagulation factor (FVIII or FIX respectively). Bleeding is mainly from joints (hemarthrosis) and muscles (hematoma). Nowadays, treatment is based on preventive or curative intravenous infusion of coagulation factor concentrates. Despite these treatments, there is joint deterioration that can be responsible for hemophilic arthropathy and chronic pain. This pain may be related to excess nociception during acute bleeding, but it may also be neuropathic. There are only a few studies that have looked at pain in hemophilia, but it is accepted that the vast majority of patients (especially those with severe forms) suffer from chronic pain. Because patients have become accustomed to this pain and physicians are still not very aware of how to assess it, this pain is not treated effectively. In order to better manage pain in hemophilia, it is therefore necessary to characterize their pain and to know the nociceptive or neuropathic component. The aim of our study is therefore to study the prevalence, the nociceptive or neuropathic profile, the chronic aspect of pain and the main locations of pain in hemophilia. In addition to raising the awareness of physicians in the centers about pain management using specific questionnaires, this survey will help to better define chronic pain in hemophilia of all severities.

Effectiveness of an Adapted Physical Activity Program for Subjects Suffering From Haemophilia

The present study aims to evaluate the modification of functional capacity induced by an adapted physical activity program in subjects with haemophilia. The exercise program used aims to improve joint mobility, muscle strength, static and dynamic balance, motor coordination. The program is structured in 1 hour sessions of 2 days/week and lasts 6 months. The primary endpoint is the change in functional capacity calculated as the difference between the baseline assessment and the 3 and 6 month assessment of the 6 Minutes Walking Test measured with the G-Walk (BTS Bioengineering S.p.A).

Low-Cost Platelet-Rich Plasma for Hemarthropathy

Orthopedic complications can be injuries or diseases that affect the bones, muscles, and joints. Hemarthropathy is due to bleeding disorders, most commonly hemophilia, and can result in severe issues related to chronic amounts of blood in the body's joints. This causes swelling, pain, and loss of joint function. A serious barrier to treating many patients with bleeding disorders creates higher health risks and costs. Platelet-rich plasma (PRP) injection is a method that can reduce the cost of care while still offering a similar standard of care for patients. This study intends to show that low-cost PRP can be done safely in patients with bleeding disorders, without the need for expensive equipment, while monitoring patient treatment results. Study participants will receive injections for joint conditions. Being in the study requires attending 1 to 2 in-person visits at the study clinic. Participants will also complete surveys using email, text messages, in person, and/or on the phone. Participation lasts about 6 months.