Hereditary Angioedema With C1 Esterase Inhibitor DeficiencyGENOMAEH_01NCT05833620
Identification and Characterization of Genetic Variants in Hereditary Angioedema
An observational study of Hereditary Angioedema With C1 Esterase Inhibitor Deficiency, run by Hospital Universitari Vall d'Hebron Research Institute at 2 sites in Spain.
Trial summary
This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Angioedema With C1 Esterase Inhibitor Deficiency
- How many people
- 200 participants
- Where
- 2 sitesSpain
- Study dates
- May 2023to 31 Mar 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
Study population: Adult patients with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic (≥ 18 years old), which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis and b) asymptomatic patients (≥ 22 years old), which will be those with a C1INH deficiency and who have not developed symptoms of HAE.
Who may be able to join
- Adult patients (≥ 18 years old) with HAE-C1INH diagnosis (confirmed by mutation in SERPING1 gen or immunochemical study showing a decrease in C1INH function <50% in two determinations together with a family history (symptomatic patients' group)
- Patients ≥ 22 years old with C1INH hereditary deficiency (confirmed by mutation of SERPING1 gene or immunochemical study showing a decrease in C1INH function <50% in two determinations together with a family history) and who have not developed symptoms consistent with HAE-C1INH
- Signed informed consent.
Who cannot join
- No confirmed C1INH deficiency.
- Inability to sign the informed consent.
- Presence of recurrent angioedema with histaminergic characteristics (response to treatment with antihistamines, glucocorticoids and/or epinephrine)
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Spain2 sites
Hospital Universitari Vall d'Hebron
Barcelona, 08035
Roger Colobran, PhD, +34934893000 ext. 6983, roger.colobran@vallhebron.cat
Mar Guilarte, MD
Hospital Universitario La Paz
Madrid, 28041
Alberto López Lera, PhD
Teresa Caballero, MD, PhD
About this study
Official title: Identification and Functional Characterization of Genetic Variants Associated With Specific Clinical Phenotypes in Hereditary Angioedema Due to C1 Inhibitor Deficiency: An Unbiased Approach
This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE.
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Symptomatic patients | Adult patients (≥ 18 years old) with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic, which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis | |
| Asymptomatic patients | Asymptomatic patients, which will be those with a C1INH deficiency and who have not developed symptoms of HAE. Asymptomatic patients must be at least 22 years old and meet the same criteria than those symptomatic, except for the presence of symptoms consistent with HAE-C1INH |
What is being measured
The primary outcome is the main question the study is designed to answer.
Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH
To identify and characterize novel genetic variants associated with the incomplete penetrance and variable clinical expressivity observed in HAE-C1INH patients.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Apr 2023
- Study startMay 2023 (estimated)
- Primary completion31 Mar 2026 (estimated)
- Study completion31 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Angioedema With C1 Esterase Inhibitor DeficiencyStudies of the same condition, open and under way.
- More trials run by Hospital Universitari Vall d'Hebron Research InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Hospital Universitario La Paz
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05833620
- Sponsor's protocol ID
- GENOMAEH_01
- Acronym
- GENOMAEH_01
- Status last verified
- Apr 2023
- First submitted
- 17 Mar 2023
- Last updated
- 27 Apr 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification and Functional Characterization of Genetic Variants Associated With Specific Clinical Phenotypes in Hereditary Angioedema Due to C1 Inhibitor Deficiency: An Unbiased Approach
- ClinicalTrials.gov ID
- NCT05833620
- Acronym / sponsor ID
- GENOMAEH_01 / GENOMAEH_01
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Collaborators
- Hospital Universitario La Paz
- Study start
- May 2023 (estimated)
- Primary completion
- 31 Mar 2026 (estimated)
- Study completion
- 31 Mar 2027 (estimated)
- First posted
- 27 Apr 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Symptomatic patients | – | –Adult patients (≥ 18 years old) with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic, which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis |
| Asymptomatic patients | – | –Asymptomatic patients, which will be those with a C1INH deficiency and who have not developed symptoms of HAE. Asymptomatic patients must be at least 22 years old and meet the same criteria than those symptomatic, except for the presence of symptoms consistent with HAE-C1INH |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Adult patients with hereditary angioedema with C1INH deficiency (HAE-C1INH) from different regions of Spain will be included. Patients included in the study will be divided into two groups: a) symptomatic (≥ 18 years old), which will be those who present symptoms compatible with HAE-C1INH and who have a confirmed diagnosis and b) asymptomatic patients (≥ 22 years old), which will be those with a C1INH deficiency and who have not developed symptoms of HAE.
Key inclusion criteria (3 listed)
- Adult patients (≥ 18 years old) with HAE-C1INH diagnosis (confirmed by mutation in SERPING1 gen or immunochemical study showing a decrease in C1INH function <50% in two determinations together with a family history (symptomatic patients' group)
- Patients ≥ 22 years old with C1INH hereditary deficiency (confirmed by mutation of SERPING1 gene or immunochemical study showing a decrease in C1INH function <50% in two determinations together with a family history) and who have not developed symptoms consistent with HAE-C1INH
- Signed informed consent.
Key exclusion criteria (3 listed)
- No confirmed C1INH deficiency.
- Inability to sign the informed consent.
- Presence of recurrent angioedema with histaminergic characteristics (response to treatment with antihistamines, glucocorticoids and/or epinephrine)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH
Time frame: Day 1
To identify and characterize novel genetic variants associated with the incomplete penetrance and variable clinical expressivity observed in HAE-C1INH patients.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Apr 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Angioedema With C1 Esterase Inhibitor Deficiency, run by Hospital Universitari Vall d'Hebron Research Institute at 2 sites in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 27 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Roger Colobran, PhD (+34 93 489 30 00 ext. 6983, roger.colobran@vallhebron.cat), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Apr 2023.