Effects of Emicizumab Treatment in Patients With Hemophilia A

NCT ID: NCT07190118

Last Updated: 2025-09-24

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 20 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-09-30
• Study Completion Date: 2026-02-10

Brief Summary

The aim of our study is to investigate the effects of emicizumab treatment on the musculoskeletal system in children with hemophilia A.

Detailed Description

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.

Conditions

Hemophilia A; Musculoskeletal Assessment; Musculoskeletal Abnormalities

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Hemophilia A Group

This will be the first assessment before the child begins treatment with emicizumab. During the first month of treatment, the child and parents will be asked to note any joint or muscle bleeding, including the bleeding site, duration of bleeding, and whether hospitalization is necessary. At the end of the first month, parents will be contacted by phone to assess bleeding episodes, and any bleeding that occurred during the first month will be recorded. The same assessments will then be repeated at the third and sixth months of treatment. The effectiveness of the treatment will be assessed after the first six months through an analysis of the assessments.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Children who are under 18 years of age,
• Have been diagnosed with Hemophilia A by a physician,
• Have a factor level of 1% (IU) or less,
• Have inhibitors positive or negative,
• Have no obstacles to starting subcutaneous (emicizumab) treatment,
• Willing to participate in the study

Exclusion Criteria

• Children with a history of cerebrovascular bleeding who present any neurological findings that would prevent participation in the study

• Minimum Eligible Age: 1 Year
• Maximum Eligible Age: 18 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

Hasan Kalyoncu University

OTHER

Sponsor Role: lead

Responsible Party

Tuğba GÖNEN

Asisst. Prof. Dr.

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Tuğba GÖNEN, Asisst. Prof. Dr.

Role: PRINCIPAL_INVESTIGATOR

Hasan Kalyoncu University

Locations

Hasan Kalyoncu University

Gaziantep, Gaziantep, Turkey (Türkiye)

Countries

Turkey (Türkiye)

Central Contacts

Tuğba GÖNEN, Asisst. Prof. Dr.

Role: CONTACT

tugba.badat@hku.edu.tr

505 090 58 46

References

Poonnoose PM, Manigandan C, Thomas R, Shyamkumar NK, Kavitha ML, Bhattacharji S, Srivastava A. Functional Independence Score in Haemophilia: a new performance-based instrument to measure disability. Haemophilia. 2005 Nov;11(6):598-602. doi: 10.1111/j.1365-2516.2005.01142.x.

Reference Type: BACKGROUND

PMID: 16236109 (View on PubMed)

Kumban W, Amatachaya S, Emasithi A, Siritaratiwat W. Five-times-sit-to-stand test in children with cerebral palsy: reliability and concurrent validity. NeuroRehabilitation. 2013;32(1):9-15. doi: 10.3233/NRE-130818.

Reference Type: BACKGROUND

PMID: 23422454 (View on PubMed)

McLaughlin P, Morris R, Chowdary P. Investigating the relationship between the HJHS and HAL in routine clinical practice: A retrospective review. Haemophilia. 2018 Nov;24(6):988-994. doi: 10.1111/hae.13614. Epub 2018 Oct 8.

Reference Type: BACKGROUND

PMID: 30295404 (View on PubMed)

R CB, A TO, S PA, J CJ, F Q, J NM, Ja LP. Using the Hemophilia Joint Health Score for assessment of children: Reliability of the Spanish version. Physiother Theory Pract. 2019 Apr;35(4):341-347. doi: 10.1080/09593985.2018.1443356. Epub 2018 Feb 27.

Reference Type: BACKGROUND

PMID: 29485331 (View on PubMed)

Sun J, Hilliard PE, Feldman BM, Zourikian N, Chen L, Blanchette VS, Luke KH, Poon MC. Chinese Hemophilia Joint Health Score 2.1 reliability study. Haemophilia. 2014 May;20(3):435-40. doi: 10.1111/hae.12330. Epub 2013 Dec 16.

Reference Type: BACKGROUND

PMID: 24330460 (View on PubMed)

Hilliard P, Funk S, Zourikian N, Bergstrom BM, Bradley CS, McLimont M, Manco-Johnson M, Petrini P, van den Berg M, Feldman BM. Hemophilia joint health score reliability study. Haemophilia. 2006 Sep;12(5):518-25. doi: 10.1111/j.1365-2516.2006.01312.x.

Reference Type: BACKGROUND

PMID: 16919083 (View on PubMed)

Yakut Y, Yakut E, Bayar K, Uygur F. Reliability and validity of the Turkish version short-form McGill pain questionnaire in patients with rheumatoid arthritis. Clin Rheumatol. 2007 Jul;26(7):1083-7. doi: 10.1007/s10067-006-0452-6. Epub 2006 Nov 15.

Reference Type: BACKGROUND

PMID: 17106618 (View on PubMed)

Steen Carlsson K, Andersson E, Berntorp E. Preference-based valuation of treatment attributes in haemophilia A using web survey. Haemophilia. 2017 Nov;23(6):894-903. doi: 10.1111/hae.13322. Epub 2017 Aug 29.

Reference Type: BACKGROUND

PMID: 28851125 (View on PubMed)

Meeks SL, Batsuli G. Hemophilia and inhibitors: current treatment options and potential new therapeutic approaches. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):657-662. doi: 10.1182/asheducation-2016.1.657.

Reference Type: BACKGROUND

PMID: 27913543 (View on PubMed)

Franchini M, Mannucci PM. Non-factor replacement therapy for haemophilia: a current update. Blood Transfus. 2018 Sep;16(5):457-461. doi: 10.2450/2018.0272-17. Epub 2018 Feb 14.

Reference Type: BACKGROUND

PMID: 29517971 (View on PubMed)

Sahu S, Lata I, Singh S, Kumar M. Revisiting hemophilia management in acute medicine. J Emerg Trauma Shock. 2011 Apr;4(2):292-8. doi: 10.4103/0974-2700.82225.

Reference Type: BACKGROUND

PMID: 21769217 (View on PubMed)

Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, Ludlam CA, Mahlangu JN, Mulder K, Poon MC, Street A; Treatment Guidelines Working Group on Behalf of The World Federation Of Hemophilia. Guidelines for the management of hemophilia. Haemophilia. 2013 Jan;19(1):e1-47. doi: 10.1111/j.1365-2516.2012.02909.x. Epub 2012 Jul 6.

Reference Type: BACKGROUND

PMID: 22776238 (View on PubMed)

Mehta P, Reddivari AKR. Hemophilia. 2023 Jun 5. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK551607/

Reference Type: BACKGROUND

PMID: 31869071 (View on PubMed)

Srivastava A, Santagostino E, Dougall A, Kitchen S, Sutherland M, Pipe SW, Carcao M, Mahlangu J, Ragni MV, Windyga J, Llinas A, Goddard NJ, Mohan R, Poonnoose PM, Feldman BM, Lewis SZ, van den Berg HM, Pierce GF; WFH Guidelines for the Management of Hemophilia panelists and co-authors. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158. doi: 10.1111/hae.14046. Epub 2020 Aug 3. No abstract available.

Reference Type: BACKGROUND

PMID: 32744769 (View on PubMed)

Other Identifiers

2025/096

Identifier Type: -

Identifier Source: org_study_id