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

Not yet recruiting

• Conditions: Hereditary Angioedema (HAE)

• Registration Number: NCT07218393
• Lead Sponsor: Takeda

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-10
• Study First Submitted: 2025-10-16
• Study First Submitted QC: 2025-10-16
• Last Update Submitted: 2025-10-16
• Study First Posted: 2025-10-20
• Last Update Posted: 2025-10-20
• Study Start: 2025-12-01
• Primary Completion: 2026-12-01
• Study Completion: 2026-12-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

Retrospective Phase:

1. 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).
2. The participant was diagnosed and/or treated from January 2015 to August 2025.

Inclusion Criteria: Prospective Phase:

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

Exclusion Criteria

(For both retrospective and prospective phases):

1. 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.
2. HAE participants with normal C1-INH (HAE-nC1INH).
3. Participant deemed unsuitable for participation for any reason, based on the investigator's clinical judgment.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Age of Participants at Diagnosis (in years) of HAE-C1INH Type1 or Type2	At Day 1
Percentage of Participants With HAE-C1INH Type1 or Type2	At Day 1
Number and Type of First Symptom at Initial Manifestation	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With First Symptom at Initial Manifestation	Up to 5 months retrospectively, up to 12 months prospectively
Number and Type of Confirmed Diagnosis of HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Number of Routes of Administration Used for the Therapeutic Management of Participants With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Duration of First Symptom at Initial Manifestation	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants who Received Prescriptions for Therapeutic Management With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Number of Treatment Options Used for the Therapeutic Management of Participants With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Number of Dose Regimens Used for the Therapeutic Management of Participants With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants Switching Treatment for the Therapeutic Management of Participants With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Confirmed Diagnosis of HAE-C1INH Type1 or Type2	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	Up to 5 months retrospectively, up to 12 months prospectively
Duration of Confirmed Diagnosis of HAE-C1INH Type1 or Type2	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	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Reason for Switching Treatment for the Therapeutic Management of Participants With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Frequency of Treatment Changes for the Therapeutic Management of Participants With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively

Secondary Outcome Measures

Name	Time	Method
Number of Participants With Clinical Symptom Types of HAE-C1INH Type1 or Type2 at Last Clinical Appointment	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With History of Upper Airway Edema	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With History of Abdominal Surgery due to HAE Misdiagnosis	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With HAE-related Death	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Prodromal Symptom	Up to 5 months retrospectively, up to 12 months prospectively	Prodromal symptoms before attacks such as general discomfort, tiredness, irritability, skin symptoms, rash, and paresthesia per each attack onset for each subsequent follow-up visit will be reported.
Number of Participants With Clinical Symptoms of HAE-C1INH Type1 or Type2 at Last Clinical Appointment	Up to 5 months retrospectively, up to 12 months prospectively
Average Number of Attacks Requiring Emergency Care or Hospitalization per Month	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Severity of HAE Attack per Each Attack	Up to 5 months retrospectively, up to 12 months prospectively	Number of participants with severity of HAE attack (mild, moderate, severe as reported or documented) per each attack.
Duration of Symptoms for Each HAE Attack Onset During Subsequent Follow-Up Visits	Up to 5 months retrospectively, up to 12 months prospectively
Number of HAE Attacks per Month	Up to 5 months retrospectively, up to 12 months prospectively
Number and Type of Hospitalizations due to HAE Attacks	Up to 5 months retrospectively, up to 12 months prospectively
Duration of Clinical Symptoms of HAE-C1INH Type1 or Type2 at Last Clinical Appointment	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Known Triggers at Diagnosis	Up to 5 months retrospectively, up to 12 months prospectively	Triggers include stress, trauma, infection, contraception, menstruation, medication, food, burns, surgical procedures, and others.
Number of Participants With Presence of Comorbidities	Up to 5 months retrospectively, up to 12 months prospectively
Time of HAE Attack(s) at Each Onset During Follow-Up Visits or Date of Last Recorded HAE Attack	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Rate of Testing and of Diagnosis Among Tested Family Members	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Response to Standard Allergy Medications	Up to 5 months retrospectively, up to 12 months prospectively	Standard allergy medications (e.g. antihistamines, glucocorticoids, and epinephrine) that will be reported based on the symptom improvement, time to relief, reduction in symptom severity, and need for additional interventions.
Average Number of HAE Attacks per Month	Up to 5 months retrospectively, up to 12 months prospectively
Average Number of Attacks Requiring Acute Treatment per Month	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants Categorized by HAE Attack Characteristics	Up to 5 months retrospectively, up to 12 months prospectively	HAE attack characteristics will include most common attack site(s) (e.g., abdominal, cutaneous, laryngeal), number of recurrent abdominal attacks, site of attack per each attack onset for each subsequent follow-up visit, and symptoms experienced per attack (e.g., pain, swelling, nausea).
Number of Participants With any Known Triggers Identified by the Participant as Related to the Onset of the Attack per Each Attack Onset for Each Subsequent Follow-up Visits	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With On-demand Treatment Medication for Each HAE Attack	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Life-threatening Attacks	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants (Family Members) Diagnosed With HAE-C1INH Type1 or Type2	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Degree of Relation (Parent, Sibling, Child) to Diagnosed Family Members	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Presence of Laryngeal or Life-threatening Attacks in Relatives	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Clinical Assessment for HAE Diagnosis With Symptoms Description for the Patient, their Descendants, or Relatives	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Laboratory Testing for the Participant, Their Descendants, or Relatives	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With History of HAE-related Deaths in the Family	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participant's Relatives who Underwent Clinical and/or Lab Assessment for HAE diagnosis	Up to 5 months retrospectively, up to 12 months prospectively
Number of Follow-up Visits Routinely Performed (Average per Year) During the Retrospective and Prospective Phase	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants Who Missed Days at Work or School and Social Life due to HAE Attack	Up to 5 months retrospectively, up to 12 months prospectively
Number of Participants With Treatment Discontinuation	Up to 5 months retrospectively, up to 12 months prospectively	Participants who discontinued the treatment due to reasons such as lack of efficacy, safety concerns, compliance issues, or others.

Trial Locations

Locations (7)

Mansoura university hospital; 🇪🇬 Al Mansurah, Egypt

Alexandria university_Clinical Research Center; 🇪🇬 Alexandria, Egypt

Ain shams university hospital_Pediatrics; 🇪🇬 Cairo, Egypt

Ain shams university hospital; 🇪🇬 Cairo, Egypt

Cairo university hospital_Pediatrics; 🇪🇬 Giza, Egypt

Cairo university hospital; 🇪🇬 Giza, Egypt

Zagazig university hospital; 🇪🇬 Zagazig, Egypt