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Evaluation of New Markers in Type 3 Angioedema

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ClinicalTrials.gov Identifier: NCT03917680
Recruitment Status : Recruiting
First Posted : April 17, 2019
Last Update Posted : April 17, 2019
Sponsor:
Information provided by (Responsible Party):
Olivier Michel, Brugmann University Hospital

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.


Condition or disease Intervention/treatment Phase
Angio Edema Diagnostic Test: Factor XII dosage Genetic: p.Thr328Lys mutation detection Diagnostic Test: Videocapillaroscopy Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 60 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Evaluation of New Markers (FXII and Videocapillaroscopy) in Type 3 Angioedema
Actual Study Start Date : October 29, 2018
Estimated Primary Completion Date : January 1, 2020
Estimated Study Completion Date : January 1, 2020

Arm Intervention/treatment
Experimental: Type III angioedema
White angioedema. Positive for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC.
Diagnostic Test: Factor XII dosage
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.

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

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

Experimental: Idiopathic angioedema
White angioedema. Negative for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC.
Diagnostic Test: Factor XII dosage
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.

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

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

Experimental: Type I or II angioedema
White angioedema. Negative for Factor XII mutation. C1-inhibitors anomaly. Not caused by IEC.
Diagnostic Test: Factor XII dosage
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.

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

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

Experimental: Post IEC (conversion enzyme inhibitors) angioedema
White angioedema. Negative for Factor XII mutation. No C1-inhibitors anomaly. Caused by IEC.
Diagnostic Test: Factor XII dosage
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.

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

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

Experimental: Histaminic angioedema
Red angioedema.Negative for Factor XII mutation. No C1-inhibitors anomaly. Not caused by IEC.
Diagnostic Test: Factor XII dosage
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.

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

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

Control
Healthy individuals, no angioedema.
Diagnostic Test: Videocapillaroscopy
It is an optical method to visualize the most superficial part of the cutaneous microcirculatory network. It provides morphological information.




Primary Outcome Measures :
  1. Plasma concentration of Factor XII [ Time Frame: 24 hours ]
    Plasma concentration of Factor XII

  2. Presence of p.Thr328Lys mutation [ Time Frame: 24 hours ]
    Genetic analysis : sequencing of the Factor VII gene. Presence/Absence of the p.Thr328Lys mutation (single nucleotide variation inducing a missense variant).

  3. Videocapillaroscopy result [ Time Frame: 24 hours ]
    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.



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03917680


Contacts
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Contact: Oumnia Mouna, MD 3224772272 Oumnia.MOUNA@chu-brugmann.be

Locations
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Belgium
CHU Brugmann Recruiting
Brussel, Belgium, 1020
Contact: Oumnia Mouna, MD         
Sponsors and Collaborators
Brugmann University Hospital
Investigators
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Principal Investigator: Oumnia Mouna, MD CHU Brugmann

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Responsible Party: Olivier Michel, Head of immuno-allergology clinic, Brugmann University Hospital
ClinicalTrials.gov Identifier: NCT03917680     History of Changes
Other Study ID Numbers: CHUB-angiodema
First Posted: April 17, 2019    Key Record Dates
Last Update Posted: April 17, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Angioedema
Vascular Diseases
Cardiovascular Diseases
Urticaria
Skin Diseases, Vascular
Skin Diseases
Hypersensitivity, Immediate
Hypersensitivity
Immune System Diseases