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| Name | Class |
|---|---|
| Hospital Universitario La Paz | OTHER |
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This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Symptomatic patients | Adult patients (≥ 18 years old) with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic, which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis | ||
| Asymptomatic patients | Asymptomatic patients, which will be those with a C1INH deficiency and who have not developed symptoms of HAE. Asymptomatic patients must be at least 22 years old and meet the same criteria than those symptomatic, except for the presence of symptoms consistent with HAE-C1INH |
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| Measure | Description | Time Frame |
|---|---|---|
| Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH | To identify and characterize novel genetic variants associated with the incomplete penetrance and variable clinical expressivity observed in HAE-C1INH patients. | Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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Adult patients with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic (≥ 18 years old), which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis and b) asymptomatic patients (≥ 22 years old), which will be those with a C1INH deficiency and who have not developed symptoms of HAE.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Roger Colobran, PhD | Contact | +34 93 489 30 00 | 6983 | roger.colobran@vallhebron.cat |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospital Universitari Vall d'Hebron | Barcelona | 08035 | Spain |
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| Hospital Universitario La Paz | Madrid | 28041 | Spain |
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