Clinical Trial: Biomarker for Hereditary Angioedema Disease Type 1

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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 Summary:

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
Sponsor: University of Rostock

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

Original Primary Outcome: Same as current

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

Original Secondary Outcome: Same as current

Information By: University of Rostock

Dates:
Date Received: January 18, 2017
Date Started: January 2017
Date Completion: January 2020
Last Updated: May 3, 2017
Last Verified: May 2017