Evaluation of New Markers in Type 3 Angioedema

NCT03917680 | Completed

• 1 other identifier: CHUB-angiodema
• Study Type: interventional
• Target: 32
• Locations: 1 country
• Sites: 1

Brief Summary

Angioedema is a common condition, with multiple etiologies. Type 3 angioedema is caused by an increase in kininogenase activity responsible for an increased production of bradykinin. In some cases, it may be associated with clotting factor 12 mutations. However, other genetic abnormalities remain to be identified. Clinically, this angioedema type 3 is similar to types 1 and 2. The patient's vital prognosis is good if the diagnosis is made and if they have access to the appropriate treatment. Otherwise a significant morbidity is associated with it, hence the importance of being able to define a diagnostic marker. Videocapillaroscopy might be able to highlight abnormalities in the microcirculation of patients with a clinical display of angioedema. The purpose of this study is to highlight markers allowing to make an early diagnosis of angioedema. Functional analysis of factor XII in patients with symptoms of angioedema may be an interesting marker for diagnosis. Microcirculation abnormalities will also be evaluated by videocapillaroscopy, which may be another indicator of the disease.

Conditions

Angio Edema

Outcome Measures

Primary Outcomes (3)

• Plasma concentration of Factor XII

  Plasma concentration of Factor XII

  24 hours

• Presence of p.Thr328Lys mutation

  Genetic analysis : sequencing of the Factor VII gene. Presence/Absence of the p.Thr328Lys mutation (single nucleotide variation inducing a missense variant).

  24 hours

• Videocapillaroscopy result

  It is an optical method to visualize the most superficial part of the cutaneous microcirculatory network. It provides morphological information.The result will be classified as 'normal' or 'abnormal' by the videocapillaroscopy specialist.

  24 hours

Study Arms (6)

Type III angioedema

EXPERIMENTAL

White angioedema. Positive for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC.

Diagnostic Test: Factor XII dosage; Genetic: p.Thr328Lys mutation detection; Diagnostic Test: Videocapillaroscopy

Idiopathic angioedema

EXPERIMENTAL

White angioedema. Negative for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC.

Diagnostic Test: Factor XII dosage; Genetic: p.Thr328Lys mutation detection; Diagnostic Test: Videocapillaroscopy

Type I or II angioedema

EXPERIMENTAL

White angioedema. Negative for Factor XII mutation. C1-inhibitors anomaly. Not caused by IEC.

Diagnostic Test: Factor XII dosage; Genetic: p.Thr328Lys mutation detection; Diagnostic Test: Videocapillaroscopy

Post IEC (conversion enzyme inhibitors) angioedema

EXPERIMENTAL

White angioedema. Negative for Factor XII mutation. No C1-inhibitors anomaly. Caused by IEC.

Diagnostic Test: Factor XII dosage; Genetic: p.Thr328Lys mutation detection; Diagnostic Test: Videocapillaroscopy

Histaminic angioedema

EXPERIMENTAL

Red angioedema.Negative for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC.

Diagnostic Test: Factor XII dosage; Genetic: p.Thr328Lys mutation detection; Diagnostic Test: Videocapillaroscopy

Control

OTHER

Healthy individuals, no angioedema.

Diagnostic Test: Videocapillaroscopy

Interventions

Factor XII dosage DIAGNOSTIC_TEST

Factor XII (FXII, Hageman factor) will be measured in plasma. It is converted to FXIIa by an activator. The FXIIa protease cleaves a chromogenic substrate and releases p-nitroaniline (pNA), which can be measured photometrically.

Histaminic angioedema; Idiopathic angioedema; Post IEC (conversion enzyme inhibitors) angioedema; Type I or II angioedema; Type III angioedema

p.Thr328Lys mutation detection GENETIC

Sequencing of exon 9 of franking introns of FXII, for identification of the p.Thr328Lys mutation.

Histaminic angioedema; Idiopathic angioedema; Post IEC (conversion enzyme inhibitors) angioedema; Type I or II angioedema; Type III angioedema

Videocapillaroscopy DIAGNOSTIC_TEST

It is an optical method to visualize the most superficial part of the cutaneous microcirculatory network. It provides morphological information.

Control; Histaminic angioedema; Idiopathic angioedema; Post IEC (conversion enzyme inhibitors) angioedema; Type I or II angioedema; Type III angioedema

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Population of patients treated within the CHU Brugmann Hospital for an angioedema (and control group of healthy individuals)

You may not qualify if:

• None

Sponsors & Collaborators

• Brugmann University Hospital: lead

Study Sites (1)

CHU Brugmann

Brussels, 1020, Belgium

Location

MeSH Terms

Conditions

Angioedema

Interventions

Microscopic Angioscopy

Condition Hierarchy (Ancestors)

Vascular Diseases; Cardiovascular Diseases; Urticaria; Skin Diseases, Vascular; Skin Diseases; Skin and Connective Tissue Diseases; Hypersensitivity, Immediate; Hypersensitivity; Immune System Diseases

Intervention Hierarchy (Ancestors)

Intravital Microscopy; Microscopy; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Cardiovascular; Investigative Techniques

Study Officials

• Oumnia Mouna, MD

  CHU Brugmann

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of immuno-allergology clinic

Study Record Dates

• First Submitted: April 3, 2019
• First Posted: April 17, 2019
• Study Start: October 29, 2018
• Primary Completion: October 8, 2019
• Study Completion: October 8, 2019
• Last Updated: January 18, 2020

Record last verified: 2020-01

Data Sharing

• IPD Sharing: Will not share

Locations

BE (1)