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Biomarker for Hereditary Angioedema Disease Type 1

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Disease Information

Descriptive Information
Brief Title † Biomarker for Hereditary Angioedema Disease Type 1
Official Title † Biomarker for Hereditary Angioedema Disease Type 1: An International, Multicenter, Epidemiological Protocol
Brief Summary Development of a new mass spectrometry based biomarker for the early and sensitive diagnosis of hereditary angioedema disease type 1 from plasma
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 Phase N/A
Study Type † Observational
Study Design †
Primary Outcome Measure † The diagnosis of hereditary angioedema disease type 1 measured by sequencing of hereditary angioedema disease type 1
Secondary Outcome Measure † Number of correct identified patients with hereditary angioedema disease type 1 disease
Condition † Hereditary AngioEdema Angioedema, Hereditary Angio-Oedema of Lips Angio-Oedema of Tongue
Intervention †
Study Arms / Comparison Groups Observation Patients at 2 months with hereditary angioedema disease type 1 or high-grade suspicion for hereditary angioedema disease type 1
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 50
Start Date † January 2017
Completion Date January 2020
Primary Completion Date December 2019
Eligibility 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
Gender All
Ages 2 Months - N/A
Accepts Healthy Volunteers No
Contacts †† Arndt Rolfs, MD, 49 381 494, arndt.rolfs@med.uni-rostock.de
Location Countries † Germany
Administrative Information
NCT ID † NCT03029728
Organization ID BHAE 01-2017
Secondary IDs ††
Responsible Party Principal Investigator
Study Sponsor † University of Rostock
Collaborators †† Centogene AG Rostock
Investigators † Principal Investigator: Arndt Rolfs, MD, Albrecht Kossel Institute Rostock, University of Rostock
Information Provided By
Verification Date May 2017
First Received Date † January 18, 2017
Last Updated Date May 3, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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