Clinical trial NCT04106323: A Study of Factor Inhibitors in Adult Patients With Hemophilia and Von Willebrand's Disease in Upper Egypt
Official title: A Study of Factor Inhibitors in Adult Patients With Hemophilia and Von Willebrand's Disease in Upper Egypt
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Hemophilia
Von Willebrand Diseases
Christmas Disease
Keywords: Upper Egypt
Factor
Inhibitor
Lead sponsor: Assiut University
Sponsor class: OTHER
First posted: 2019-09-27
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Maximum age (years): 55
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with hemophilia A, B, and Von willebrand's disease who will be admitted at the clinical hematology unit ( Department of Internal Medicine), Assiut University Hospital over one year will be included in the study.

Brief summary: Hemophilia A and B are bleeding disorders caused by deficiency of factor VIII and IX, respectively. The deficiency of one of these coagulation factors is due to a mutation on the X chromosome. Accordingly replacement of the deficient factor is currently the main treatment for these disorders. The most disappointing complication of replacement therapy in hemophilia is the development of inhibitors. Unlike haemophilia , inhibitor development in patients with V Willebrand's Disease (VWD) is a rare complication of treatment. Studies on inhibitors whether on hemophilia or VWD are limited in our region.

This study aims to

1. To estimate the frequency of factor inhibitors in hemophilia and VWD patients in our region.
2. To investigate modifiable risk factors associated with development of inhibitors in both diseases.
3. To correlate the level of inhibitor with the clinical presentation of the patients.
4. To assess influence of factor inhibitors on quality of life in patients who developed factor inhibitors in both diseases.

Detailed description: Individuals with hemophilia are deficient in one of the clotting factor proteins that are vital in the formation of a clot. Classic hemophilia or hemophilia A is a deficiency of factor VIII, while Christmas Disease or Hemophilia B is a deficiency of factor IX. The prevalence of hemophilia A or B varies in different countries and geographic regions.

Patients with either type of hemophilia are at risk for prolonged bleeding, replacement of the deficient protein is the main therapy . The most serious complication of replacement therapy in hemophilia is the development of inhibitors.An inhibitor is a polyclonal high-affinity immunoglobulin G (IgG) that is directed against the clotting factorI protein. These antibodies can be either inhibitory or non inhibitory.

Inhibitors neutralize the administered clotting factor so that bleeding does not stop. Inhibitors are the most significant risk factor for morbidity and mortality associated with hemophilia, and patients with inhibitors present complex patient management challenges.

Few studies investigated development of factor inhibitor in Egyptian patients, however most of them concentrated on pediatric patients, also data regarding factor inhibitors in Upper Egypt was limited.

VonWillebrand's disease is a bleeding disorder caused by deficiency of VWF. The treatment of VWD is somewhat similar to that of patients with hemophilia which consists of infusions to replace the missing factors as on demand regimen using plasma derived (PD) products which contains both FVIII and VWF. Furthermore, many of the patients are currently on some form of prophylaxis to eliminate or decrease the frequency of bleeding episodes.

Nearly, 7.5 % of VWD patients develop inhibitors to VWF becoming non- responsive to replacement therapy, and prone to develop severe anaphylactic and life threatening reactions when exposed to any product that contains VWF.

Unlike hemophilia clinical presentation of VWD patients who developed inhibitors is not serious.

Again data on factor inhibitors in VWD is deficient in many countries worldwide particularly Egypt . Investigators assumed that this is the first study that well assess factor inhibitors in VWD in Upper Egypt.

Eligibility criteria: Inclusion Criteria:

* Patients diagnosed congenital hemophilia A, Christmas disease, and VWD

Exclusion Criteria

* Patients diagnosed with acquired hemophilia
* Patients below 18 years
* Patients with other bleeding tendencies

Primary outcomes:
measure: Number of patients with inhibitors
timeFrame: 4-days
measure: Number of patients on demand replacement therapy
timeFrame: 7-days
measure: Number of participants with low or high responding inhibitors
timeFrame: 7-days
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: Assiut University Hospial
name: Howaida A. Nafady, Prof.
role: STUDY_DIRECTOR
References:
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