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Trial record 3 of 3 for:    "Acquired angioedema"

Biomarker for Hereditary Angioedema Disease Type 1 (BioHAE)

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ClinicalTrials.gov Identifier: NCT03029728
Recruitment Status : Recruiting
First Posted : January 24, 2017
Last Update Posted : September 14, 2017
Sponsor:
Collaborator:
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock

Brief Summary:
Development of a new mass spectrometry based biomarker for the early and sensitive diagnosis of hereditary angioedema disease type 1 from plasma

Condition or disease
Hereditary AngioEdema Angioedema, Hereditary Angio-Oedema of Lips Angio-Oedema of Tongue

Detailed Description:

Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Usually, this swelling is not accompanied by itching, as it might be with an allergic reaction. Swelling of the gastrointestinal tract leads to cramping. Swelling of the airway may lead to obstruction, a potentially very serious complication. These symptoms develop as the result of deficiency or improper functioning of certain proteins that help to maintain the normal flow of fluids through very small blood vessels (capillaries).

In some cases, fluid may accumulate in other internal organs. The severity of the disease varies greatly among affected individuals. The most common form of the disorder is hereditary angioedema type I, which is the result of abnormally low levels of certain complex proteins in the blood (C1 esterase inhibitors), known as complements. They help to regulate various body functions.

The characteristic symptom of hereditary angioedema is recurrent episodes of swelling of affected areas due to the accumulation of excessive body fluid. The areas of the body most commonly affected include the hands, feet, eyelids, lips, and/or genitals. Edema may also occur in the mucous membranes that line the respiratory and digestive tracts, which is more common in people with hereditary angioedema than in those who have other forms of angioedema (i.e., acquired or traumatic). People with this disorder typically have areas of swelling that are hard and painful, not red and itchy (pruritic). A skin rash (urticaria) rarely is present.

The symptoms of hereditary angioedema may recur and can become more severe. Injury, severe pain, surgery, dental procedures, viral illness, and/or stress can trigger or worsen the recurring symptoms.

Symptoms associated with swelling in the digestive system (gastrointestinal tract) include nausea, vomiting, acute abdominal pain, and/or other signs of obstruction. Edema of the throat (pharynx) or voice-box (larynx) can result in pain, difficulty swallowing (dysphagia), difficulty speaking (dysphonia), noisy respiration (stridor), and potentially life-threatening asphyxiation.

Hereditary angioedema is inherited as an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a spontaneous new mutation (gene change) in the affected individual.

The symptoms of hereditary angioedema type I develop due to a deficiency of a protein known as complement component C1 esterase inhibitor.


Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Hereditary Angioedema Disease Type 1: An International, Multicenter, Epidemiological Protocol
Actual Study Start Date : January 2017
Estimated Primary Completion Date : December 2019
Estimated Study Completion Date : January 2020

Resource links provided by the National Library of Medicine


Group/Cohort
Observation
Patients at 2 months with hereditary angioedema disease type 1 or high-grade suspicion for hereditary angioedema disease type 1



Primary Outcome Measures :
  1. The diagnosis of hereditary angioedema disease type 1 measured by sequencing of hereditary angioedema disease type 1 [ Time Frame: 36 months ]

Secondary Outcome Measures :
  1. Number of correct identified patients with hereditary angioedema disease type 1 disease [ Time Frame: 36 months ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectrometry 7,5 ml EDTA blood and/or a dry blood spot filter card are taken. To proof the correct diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of hereditary angioedema disease type 1 will be done.


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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All Patients with hereditary angioedema disease type 1 or high grade suspicion for hereditary angioedema disease type 1submitted to the participating centers should be included into the study
Criteria

Inclusion Criteria:

  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both genders older than 2 months
  • The patient has a diagnosis of hereditary angioedema disease type 1 or a high grade suspicion for hereditary angioedema disease type 1
  • High grade suspicion present, if one or more inclusion criteria are valid:

    • Positive family anamnesis for hereditary angioedema disease type 1
    • Swelling of the skin
    • Swelling of the hands and feet
    • Abdominal pain
    • Laryngeal edema

Exclusion Criteria:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 months
  • No diagnosis of hereditary angioedema disease type 1 or no valid criteria for profound suspicion of hereditary angioedema disease type 1

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): NCT03029728


Contacts
Contact: Arndt Rolfs, MD 49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de
Contact: Susanne Zielke 49 381 494 ext 4739 susanne.zielke@med.uni-rostock.de

Locations
Germany
Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, Prof.    +49 381 494 ext 9540    arndt.rolfs@med.uni-rostock.de   
Contact: Susanne Zielke    +49 381 494 ext 4739    susanne.zielke@med.uni-rostock.de   
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Investigators
Principal Investigator: Arndt Rolfs, MD Albrecht Kossel Institute Rostock, University of Rostock

Additional Information:
Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier: NCT03029728     History of Changes
Other Study ID Numbers: BHAE 01-2017
First Posted: January 24, 2017    Key Record Dates
Last Update Posted: September 14, 2017
Last Verified: September 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Hereditary and acquired C1-inhibitor deficiency
C1 esterase inhibitor, hereditary angioedema,

Additional relevant MeSH terms:
Edema
Angioedema
Angioedemas, Hereditary
Signs and Symptoms
Vascular Diseases
Cardiovascular Diseases
Urticaria
Skin Diseases, Vascular
Skin Diseases
Hypersensitivity, Immediate
Hypersensitivity
Immune System Diseases
Genetic Diseases, Inborn