The aim of our study is to investigate the effects of emicizumab treatment on the musculoskeletal system in children with hemophilia A.
Hemophilia is a rare inherited coagulation disorder resulting from a deficiency of factor (F) VIII or IX. It is a chronic group of diseases that primarily manifests as intra-articular (hemarthrosis) and intramuscular (hematoma) bleeding and affects quality of life. Easy ecchymosis formation in early childhood, especially spontaneous intra-articular and intramuscular bleeding, and a history of bleeding lasting longer than expected after interventions and trauma should raise the suspicion of hemophilia. The severity of bleeding findings is directly related to the degree of FVIII or FIX deficiency. While the clinical picture varies depending on the duration and frequency of bleeding, the severity of the disease is classified as severe (\<1% IU dL-1), moderate (1%-5% IU dL-1), and mild (5%-40% IU dL-1). Hemophilia A occurs in 85% of the population (1 in 5,000 male births), while this rate is 15% in Hemophilia B (1 in 30,000 male births). Treatment of hemophilia is primarily divided into treatment of acute bleeding and prophylaxis. The primary goal in the treatment of acute bleeding is to achieve hemostasis within the first two hours after the onset of symptoms. Patients often recognize a bleeding episode by a tingling sensation or an "aura" before the bleeding begins. In such cases, factor replacement therapy should be administered immediately. In a patient presenting with severe acute bleeding, after determining the location and severity of the bleeding, factor VIII or factor IX and high-dose clotting factor concentrate (CFC) are administered. Factor concentrate doses should be 50 IU/kg factor VIII or 100-120 IU/kg factor IX. Even if bleeding slows or stops, CFC should be administered to maintain healing. Frequent measurement of factor levels should be performed to ensure that desired levels are maintained. Acetylsalicylic acid (ASA) and nonsteroidal anti-inflammatory drugs (NSAIDs) should be avoided during pain management due to their effects on platelet function and increased risk of bleeding. Prophylaxis treatment includes treating acute bleeding as well as replacing the missing factor in cases where there is no bleeding. Prophylactic treatment has many advantages. Prophylaxis is generally initiated at an early age to prevent and reduce the risk of joint bleeding and the development of hemophilic arthropathy. Dosing is personalized and adjusted according to the severity of bleeding. It protects joint health by reducing hemarthrosis episodes and reduces the need for joint surgical interventions. Prophylactic factor replacement in hemophilia treatment is administered two or three times a week via intravenous infusion. Emicizumab, one of the alternative pharmacological treatments developed in recent years, is a subcutaneous treatment method that provides patients with access to the medication within clinical and financial healthcare services in Turkey as of May 2025. Emicizumab, Fitusiran, and Concizumab, both inhibit natural anticoagulant pathways. With these subcutaneous treatments, injection frequency can vary depending on the molecule, but can be daily, weekly, or monthly. One of the most important advantages of these treatments is their effectiveness in the presence of alloantibodies, which are a significant cause of morbidity and mortality in hemophilia. Treatment features such as reduced injection frequency of factor replacements administered subcutaneously, eliminating the need for intravenous infusions, and increasing physical activity opportunities are thought to produce significant benefits affecting quality of life, in addition to controlling and preventing bleeding. Therefore, new drugs that promise less bleeding with fewer and more comfortable injections are quite attractive. It is believed that reduced bleeding will equally reduce musculoskeletal damage, support improved joint health, and increase the individual's level of functionality, resulting in improved quality of life by ensuring independence in daily life. Improved musculoskeletal health and independence in daily life will increase children's exercise habits. The positive contributions to the musculoskeletal system, such as increased overall muscle mass and maintenance of joint health, will also increase the effectiveness of physiotherapy programs. There are no other studies examining the effects of this newly introduced drug on the musculoskeletal system in children in Turkey. Therefore, the aim of our study was to investigate the effects of emicizumab treatment on the musculoskeletal system in children with hemophilia A.
Study Type
OBSERVATIONAL
Enrollment
20
Hasan Kalyoncu University
Gaziantep, Gaziantep, Turkey (Türkiye)
The pain
Mc Gill Short Form will used to determine the type and severity of the pain. A short form of the McGill Pain Questionnaire (SF-MPQ) has been developed. The main component of the SF-MPQ consists of 15 descriptors (11 sensory; 4 affective) which are rated on an intensity scale as 0 = none, 1 = mild, 2 = moderate or 3 = severe.
Time frame: through of the study, average 6 months
Hemophilia Joint Health Score (HJHS)
Hemophilia Joint H is a scoring system that targets the evaluation of three major joints (elbow, knee, and ankle). Consists of a total of 9 questions: 8 questions assessing joints and 1 question providing a global gait score. The hemophilia joint health score is calculated by assessing joint swelling, the longevity of the swelling, the presence of atrophy in the surrounding soft tissue, crepitus during active movement, loss of flexion or extension, pain, muscle strength, and the total global gait score. Hemophilia Joint Health Score values range from 0 to 124, with higher scores indicating poorer joint health.
Time frame: through of the study, average 6 months
Lower extremity functionality and mobility- 5-Time Sit-to-Go Test
The 5-time sit-to-stand test is scored based on the time (in seconds to the nearest decimal place) in which a patient can move from a sitting position to a standing position and back to a sitting position five times. At the beginning of the test, the test participant is instructed to sit in a chair with their back straight. They are also instructed to fold their arms across their chest. The test participant should then be instructed to sit and stand five times as quickly as possible. The shorter the time taken to complete the test, the better the test result.
Time frame: through of the study, average 6 months
Upper extremity functionality
The Questionnaire for Arm, Shoulder, and Hand Disabilities (Q-DASH) will be used to assess individuals' upper extremity functions. This questionnaire is a self-administered measurement tool with validated validity and reliability in Turkish. The questionnaire, consisting of 30 questions, assesses the individual's ability to perform functional activities (21 items), pain (5 items), and psychosocial aspects of the disease (4 items). The total score ranges from 0 to 100, with a higher score indicating better outcomes.
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Time frame: through of the study, average 6 months
Static balance
The One-Legged Standing Test will be administered to assess patients' static balance. In the one-leg standing test, the subject will stand with their arms hanging at their sides and lift each lower extremity one leg at a time, measuring the duration of their stance. The time will be stopped if they reposition their supporting leg, touch the ground with their raised foot, or seek support from an observer or any other support.
Time frame: through of the study, average 6 months
Lower extremity functionality and mobility- 30-second Sit-to-Go Test
The 30-Second Chair Test is administered using a folding chair without arms. The chair, with rubber feet, is placed against a wall to prevent movement. The participant sits in the center of the chair, back straight, feet approximately shoulder-width apart and slightly behind the knees, with one foot slightly in front of the other to assist with balance. Arms are crossed at the wrists and held toward the chest. The participant is encouraged to perform as many complete poses as possible in 30 seconds. The participant is asked to sit fully between each pose. The tester, monitoring the participant's performance to ensure proper form, silently counts the number of each pose. The score is the total number of poses performed in the 30 seconds (more than half the poses by the end of 30 seconds are considered complete poses).
Time frame: through of the study, average 6 months
Lower extremity functionality and mobility- Timed Up-and-Go Test
The Timed Up and Go Test (TUG) is a quick and easy-to-administer clinical test that assesses an individual's basic mobility skills. The test involves the patient rising from a standard chair, walking a distance of 3 meters (10 feet), turning around, returning to the chair, and sitting down again. The time taken to complete this task is recorded in seconds.
Time frame: through of the study, average 6 months
Fear of movement
The Tampa Kinesiophobia Scale will be used to assess patients' fear of movement. The questionnaire, which will be used to measure individuals' perspectives on movement and their fear aspects, consists of 17 questions with total scores ranging from 17 to 68. Tampa scores greater than 37 indicate a high degree of kinesiophobia.
Time frame: through of the study, average 6 months
Functional independence levels
The scoring system, categorized according to the International Classification of Functioning, Disability, and Health (ICF), was developed by considering activities that may be affected in the daily lives of hemophilia patients. Being a performance-based scale, it can be used in different languages. The scale consists of eight questions covering the subparameters of self-care, transfer, and locomotion. The self-care subparameter includes eating and hygiene, bathing and dressing; the transfer subparameter includes chair and squatting; and the locomotion subparameter includes walking, climbing and descending stairs (12-14 steps), and running. Activities are scored on a scale of 1 to 4, depending on the degree of independence. The minimum score is 8, and the maximum is 32. A high score indicates an individual's functional independence.
Time frame: through of the study, average 6 months
Children's Quality of Life
The Children's Quality of Life Inventory (PedsQL) will be used to assess patients' quality of life. The scale consists of both child and parent assessment forms and assesses four subscales: physical functioning, social functioning, school life, and emotional well-being. The scale, consisting of 5-point Likert-type questions, measures the child's quality of life based on their life experiences over the past week. Scores from each subscale range from 0 to 100. Higher scores indicate better quality of life, while lower scores indicate problems in the relevant area. The parent and child forms can be evaluated separately to obtain results from different perspectives.
Time frame: through of the study, average 6 months