A Study About the Diagnosis and Management of Hereditary Angioedema (HAE) in Egypt

Official title

Retrospective and Prospective Real-World Evidence (RWE) Study Investigating Diagnosis and Therapeutic Management of Patients With HAE Type I or II in the Current Medical Practice in Egypt: the EXPLORHAE Study (EXPLORing Prospective and Retrospective Health Assessments of HAE in Egypt)

Overview

Hereditary angioedema (HAE) is a rare condition. It causes sudden swelling under the skin and inside the body, like in the belly, throat, or genitals. This swelling happens because of a temporary leak in blood vessels. HAE is classified based on the amount of a protein in the blood called C1 inhibitor (C1-INH): HAE with normal C1-INH levels and HAE with limited or insufficient C1-INH levels (C1-INH deficiency); HAE with C1-INH deficiency can be divided into Type1, with low levels of C1-INH, and Type 2, in which the protein is there, but does not work properly. This study will look at people with HAE Type1 or Type2. The main aim of this study is to describe the diagnosis and management of people with HAE Type1 or HAE Type2 in Egypt. Other aims are to learn more about people with HAE Type1 or Type2, including, but not limited to, other conditions they may have, family history, impact of HAE on daily life, if treatment is stopped and the reasons. During the study, information from already existing data in a participant's medical record will be reviewed and new data will be collected during routine visits of a participant to the study clinic.

Interventions

• Other No intervention
  This is a non-interventional study.

Primary outcome measures

• Age of Participants at Diagnosis (in years) of HAE-C1INH Type1 or Type2 [Time frame: At Day 1]
• Percentage of Participants With HAE-C1INH Type1 or Type2 [Time frame: At Day 1]
• Number and Type of First Symptom at Initial Manifestation [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With First Symptom at Initial Manifestation [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Duration of First Symptom at Initial Manifestation [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number and Type of Confirmed Diagnosis of HAE-C1INH Type1 or Type2 [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With Confirmed Diagnosis of HAE-C1INH Type1 or Type2 [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Duration of Confirmed Diagnosis of HAE-C1INH Type1 or Type2 [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants with Recorded Diagnostic Test Results for C1-INH Antigenic Level, Serum Complement Component 4 (C4) Level, and C1-INH Functional Level [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants Receiving On-demand (OD), Short-term prophylaxis (STP), and Multiple Long-Term Prophylaxis (LTP) Therapies [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]

Secondary outcome measures (12)

• Number of Participants With Clinical Symptoms of HAE-C1INH Type1 or Type2 at Last Clinical Appointment [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With Clinical Symptom Types of HAE-C1INH Type1 or Type2 at Last Clinical Appointment [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Duration of Clinical Symptoms of HAE-C1INH Type1 or Type2 at Last Clinical Appointment [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With Known Triggers at Diagnosis [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With History of Upper Airway Edema [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With History of Abdominal Surgery due to HAE Misdiagnosis [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With HAE-related Death [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With Response to Standard Allergy Medications [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Number of Participants With Presence of Comorbidities [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Average Number of HAE Attacks per Month [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Average Number of Attacks Requiring Acute Treatment per Month [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]
• Average Number of Attacks Requiring Emergency Care or Hospitalization per Month [Time frame: Up to 5 months retrospectively, up to 12 months prospectively]

Eligibility criteria

Inclusion Criteria: Retrospective Phase:

• The participant has a confirmed HAE-C1INH type1 or type2 diagnosis in medical records (based on clinical history and/or laboratory diagnosis in medical records).
• The participant was diagnosed and/or treated from January 2015 to August 2025.

Inclusion Criteria: Prospective Phase:

• The participant has a physician-confirmed HAE-C1INH type1 or type2 diagnosis (based on clinical history and/or laboratory diagnosis).
• The participant signed an informed consent or assent.
• The participant should have had at least one visit to the treating physician/investigator during enrollment and the follow-up period.
• The participant was not enrolled in the study's retrospective phase.

Exclusion Criteria: (For both retrospective and prospective phases):

• Participant with AAE-C1INH (acquired angioedema), drug-induced angioedema (AE-DI) (example angiotensin-converting enzyme inhibitors-I \[ACE-I\] angioedema), allergic mediated angioedema, inflammatory angioedema, or idiopathic angioedema.
• HAE participants with normal C1-INH (HAE-nC1INH).
• Participant deemed unsuitable for participation for any reason, based on the investigator's clinical judgment.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model

Cohort

Study locations

Egypt · 7 centers

• Mansoura university hospital — Al Mansurah
• Alexandria university_Clinical Research Center — Alexandria
• Ain shams university hospital_Pediatrics — Cairo
• Ain shams university hospital — Cairo
• Cairo university hospital_Pediatrics — Giza
• Cairo university hospital — Giza
• Zagazig university hospital — Zagazig

Identifiers

NCT: NCT07218393 · TAK-743-4031

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗