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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 : March 20, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Development of a new MS-based biomarker for the early and sensitive diagnosis of hereditary angioedema disease type 1 from the blood

Condition or disease
C1 Esterase Inhibitor Deficiency Angio-Oedema of Lips Angio-Oedema of Tongue Abdominal Pain Laryngeal Edema

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1000 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 : August 20, 2018
Estimated Primary Completion Date : June 2021
Estimated Study Completion Date : June 2021

Resource links provided by the National Library of Medicine


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



Primary Outcome Measures :
  1. Sequencing of the Hereditary Angioedema Disease Type 1 related gene [ Time Frame: 4 weeks ]
    Next-Generation Sequencing (NGS) of the SERPING1 gene will be performed. The mutation will be confirmed by Sanger sequencing.


Secondary Outcome Measures :
  1. The hereditary angioedema disease type 1 specific biomarker candidates finding [ Time Frame: 24 months ]
    The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.


Biospecimen Retention:   Samples With DNA

Laboratory Blood Test

For the development of the new biomarkers using the technique of Mass-spectrometry, a blood sample will be taken via using a dry blood spot filter card. To proof the correct di-agnosis 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.

The analyses will be done at:

Centogene AG Am Strande 7 18055 Rostock Germany



Information from the National Library of Medicine

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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
Patients with hereditary angioedema disease type 1 or high-grade suspicion for hereditary angioedema disease type 1
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 (most common symptom)

Swelling of the hands and feet

Abdominal pain (sometimes severe)

Laryngeal edema (medical emergency)

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
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Contact: Anton Mamin, Dr. +49 381 80113 535 Anton.Mamin@centogene.com
Contact: Sanjeev Kumar, Dr. +49 381 80113 591 sanjeev.kumar@centogene.com

Locations
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Egypt
Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt
Contact: Laila Selim, Prof.         
Georgia
Tbilisi State medical University Recruiting
Tbilisi, Georgia, 0186
Contact: Tinatin Tkemaladze, MD         
Germany
Centogene AG Recruiting
Rostock, Germany, 18055
Contact: Arndt Rolfs, Prof.         
India
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India
Contact: Anil Jalan, Dr.         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, MD Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT03029728     History of Changes
Other Study ID Numbers: BHAE 06-2018
First Posted: January 24, 2017    Key Record Dates
Last Update Posted: March 20, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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

Keywords provided by Centogene AG Rostock:
Angioedema, Hereditary
Biomarker

Additional relevant MeSH terms:
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Edema
Abdominal Pain
Angioedema
Angioedemas, Hereditary
Laryngeal Edema
Signs and Symptoms
Pain
Neurologic Manifestations
Signs and Symptoms, Digestive
Vascular Diseases
Cardiovascular Diseases
Urticaria
Skin Diseases, Vascular
Skin Diseases
Hypersensitivity, Immediate
Hypersensitivity
Immune System Diseases
Genetic Diseases, Inborn
Laryngeal Diseases
Respiratory Tract Diseases
Otorhinolaryngologic Diseases