Afibrinogenemia, Congenital
Conditions
Keywords
Congenital fibrinogen disorders
Brief summary
The aim of this observational study is to evaluate the quality of life in patients with congenital afibrinogenemia using the Haemo-QoL SF for kids and the Haem-A-QoL for adult patients.
Detailed description
In this observational study, children and adults suffering from congenital afibrinogenemia confirmed by biology will be enrolled. All patients will receive a questionnaire on quality of life in their own language during a routine visit and filled out by the patient at home. A general questionnaire will be filled out by the patient's physician.
Interventions
Sponsors
University Hospital, Geneva
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
8 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Congenital afibrinogenemia confirmed by biology (absence of circulating fibrinogen) and genotype
Exclusion criteria
* Lack of participant's consent * Patient unable to understand the questionnaire
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The influence of the afibrinogenemia on the patients' quality of life assessed by the Haemo-QoL SF questionnaire (for children) and the Haem-A-QoL questionnaire (for adult) | At inclusion | The quality of life questionnaire includes item assessing: * Physical health * Feeling * View * Family * Friends * Others * Sport and school * Treatment * Perceived support * Dealing * Future * Relationship |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Impact of the afibrinogenemic patient's clinical phenotype on the patients' quality of life | At Inclusion | The clinical phenotype will be assessed by a general questionnaire including data on: * Bleeding events * Bleeding events treatment * Thrombotic events * Thrombotic events treatment * Fibrinogen replacement (type of product and modality of replacement) |
Countries
Algeria, Canada, Egypt, France, Germany, India, Italy, Japan, Kuwait, Lebanon, Morocco, Netherlands, Pakistan, Poland, Serbia, Slovakia, Spain, Switzerland, Tunisia, Turkey (Türkiye), United States
Outcome results
None listed