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Severe haemophilia A and B (SHA, SHB) are inherited bleeding disorders affecting male patients and are characterised by low levels of circulating clotting factors VIII and IX respectively. Clinically low levels present with multiple recurrent bleeds into joints and muscle from the first couple of years of life. In addition patients may present with spontaneous and potentially fatal bleeding into any organ. The mainstay of treatment is replacement with the missing factor in the form of intravenous injections of factor VIII and IX. Clotting factors can be given to treat a bleed or can be given to prevent a bleed, and the latter is termed prophylaxis. Regular prophylaxis is the current standard of care and aims to decrease spontaneous bleeding events and resulting joint damage, and this requires patients to self-infuse factor into their veins two to four times week. Patient's compliance with prescribed regimen and recommendations has a significant influence on outcomes.
Advances in biomolecular and protein engineering have extended the duration of the effect of clotting factor VIII and IX through multiple mechanisms. This extension of the duration of the effect presents the clinician and patients with opportunities to tailor the treatment to their particular needs, circumstances and body other characteristics. It has been suggested that decreasing the frequency of infusions will improve adherence and thus contribute to improved outcomes.
In rare disorders, it is an accepted fact that post-marketing studies are crucial to understand the generalisability of the efficacy and safety outcomes and identify any new safety and efficacy concerns in relation to specific population group. The investigators propose the development of a registry for systematic collection of information with the dual aim of analysing the relationship between patient and treatment characteristics, and outcomes, and simultaneously identify areas for practice development that can improve the overall quality of life experienced by the haemophilia patient community.
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| Measure | Description | Time Frame |
|---|---|---|
| Bleed Control | Investigate changes to bleed control using questionnaire & Haemtrack (software package to record therapy received | 2 years post enrolment |
| Joint Health | Target joint assessment and questionnaire | 2 years post enrolment |
| Measure | Description | Time Frame |
|---|---|---|
| EQ-5D-5L | Patient Questionnaire | 2 years post enrolment |
| HAEM-A-QoL | Patient Questionnaire | 2 years post enrolment |
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Inclusion Criteria:
Exclusion Criteria:
1. Patients currently enrolled into a clinical trial of investigational medicinal product.
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Patients with Haemophilia A or B requiring replacement therapy or being considered for use of EHL - CFC.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Emal Waqif | Contact | emal.waqif@nhs.net | ||
| Mark Phillips | Contact | mark.phillips@ucl.ac.uk |
| Name | Affiliation | Role |
|---|---|---|
| Pratima Chowdary | Royal Free Hospitals NHS Foundation Trust | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Basingstoke and North Hampshire Hospital | Recruiting | Basingstoke | United Kingdom |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 37567779 | Derived | Koopman SF, Goedhart TMHJ, Bukkems LH, Mulders TM, Leebeek FWG, Fijnvandraat K, Coppens M, Mathias M, Collins PW, Tait RC, Bagot CN, Curry N, Payne J, Chowdary P, Cnossen MH, Mathot RAA; OPTI-CLOT study group and SYMPHONY consortium. A new population pharmacokinetic model for recombinant factor IX-Fc fusion concentrate including young children with haemophilia B. Br J Clin Pharmacol. 2024 Jan;90(1):220-231. doi: 10.1111/bcp.15881. Epub 2023 Sep 12. |
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| Haemo-QoL | Patient Questionnaire | 2 years post enrolment |
| Physical Activity QoL | Patient Questionnaire | 2 years post enrolment |
| Haemoprefer | Patient Questionnaire | 2 years post enrolment |
| Identify the value of individualised prophylaxis | Patient questionnaire | 5 years |
| Birmingham Women and Childrens | Recruiting | Birmingham | United Kingdom |
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| Queen Elizabeth Hospital | Recruiting | Birmingham | United Kingdom |
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| University Hospital Bristol | Recruiting | Bristol | United Kingdom |
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| Kent & Canterbury Hospital | Recruiting | Canterbury | United Kingdom |
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| University Hospital of Wales | Recruiting | Cardiff | United Kingdom |
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| University of Coventry & Warwickshire | Recruiting | Coventry | United Kingdom |
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| Glasgow Royal Hospital for Children | Recruiting | Glasgow | United Kingdom |
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| Royal Infirmary | Recruiting | Glasgow | United Kingdom |
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| Lincoln County Hospital | Recruiting | Lincoln | United Kingdom |
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| Liverpool University Hospital | Recruiting | Liverpool | United Kingdom |
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| Royal Free Hospital NHS Foundation Trust | Recruiting | London | NW3 2QG | United Kingdom |
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| Great Ormond Street Hospital | Recruiting | London | United Kingdom |
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| Hammersmith Hospital | Recruiting | London | United Kingdom |
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| St George's Hospital | Recruiting | London | United Kingdom |
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| Royal Victoria Hospital | Recruiting | Newcastle upon Tyne | United Kingdom |
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| Nottingham University Hospital | Recruiting | Nottingham | United Kingdom |
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| Churchill Hospital Oxford | Recruiting | Oxford | United Kingdom |
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| Royal Hallamshire Hospital | Recruiting | Sheffield | United Kingdom |
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| Sheffield Children's Hospital | Recruiting | Sheffield | United Kingdom |
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| Royal Cornwall Hospital | Recruiting | Truro | United Kingdom |
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| ID | Term |
|---|---|
| D006467 | Hemophilia A |
| D002836 | Hemophilia B |
| ID | Term |
|---|---|
| D025861 | Blood Coagulation Disorders, Inherited |
| D001778 | Blood Coagulation Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D020147 | Coagulation Protein Disorders |
| D006474 | Hemorrhagic Disorders |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
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