Arteriovenous MalformationNCT02445430
Genetics of Arteriovenous Malformations
An observational study of Arteriovenous Malformation, run by St. Joseph's Hospital and Medical Center, Phoenix at 1 site in United States.
Trial summary
The goal of this study is to identify genetic alterations resulting in the development of arteriovenous malformation (AVM) in the central nervous system. Read more about this study
- Who is it for?
- Ages 6 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Arteriovenous Malformation
- How many people
- 59 participants
- Where
- 1 siteUnited States
- Study dates
- May 2015to 30 Jun 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 6 to 60 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Male and female persons with AVM and their immediate family members
Who may be able to join
- Age between 6 and 60 years inclusive
- Diagnosis of AVM or nuclear family member of a patient with AVM
- Grants access to saliva, blood, and/or tissue
Who cannot join
- Age less than 6 years or greater than 61 years
- Nuclear family members who do not share the same parents as the AVM patient
Trial locations and contacts
1 site in 1 country.
United States1 site
Barrow Neurological Institute
Phoenix, Arizona, 85013
About this study
The goal of this study is to identify genetic alterations resulting in the development of arteriovenous malformation (AVM) in the central nervous system.
Read the detailed description
The study will include AVM patients and members of their nuclear family. All patients will donate a sample of saliva (5 mL) or blood (10 mL). Basic demographic and clinical parameters will be collected, including ethnicity, age at first presentation, symptoms at presentation, history of subsequent symptoms, treatment history, Spetzler-Martin AVM grade, medication history, and other pertinent medical information. In patients undergoing AVM resection, a small sample of the AVM will be collected for concurrent genomic analysis. Family members will donate saliva (5mL) and document their relationship to the patient (i.e., parent, sibling, child, etcl). Nucleic acids will be isolated from the saliva/blood samples, and genetic sequencing will be carried out. When a surgical sample of the AVM is available, nucleic acids will be obtained and transcriptome profiling will be performed. Identification of genetic alterations common to patients with AVM and not present in samples from parents and siblings will greatly aid in identification of pathways associated with AVM formation. Candidate sequences will be chosen by differential expression (p<0.05) and fold-changes. Once identified, mechanisms for the rapid detection of marker sequences will be developed and their predictive value tested in future collections.
- Conditions
- Arteriovenous Malformation
- Medical subject headings
- Arteriovenous Malformations
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of genetic alterations common to patients with AVM
Measured: sample analysis will take an expected average of six weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 May 2015 (estimated)
- Study startMay 2015
- Primary completion30 Jun 2022 (estimated)
- Study completion30 Jun 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Arteriovenous MalformationStudies of the same condition, open and under way.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 59 participants (actual)
Sponsor and investigators
- Lead sponsor
- St. Joseph's Hospital and Medical Center, Phoenix
- Sponsor type
- University, hospital or other
- Collaborators
- Translational Genomics Research Institute, The Joe Niekro Foundation
- Responsible party
- Principal investigator, Lisa Arnold, St. Joseph's Hospital and Medical Center, Phoenix
- Investigators
- Joseph Zabramski, MD, Principal investigator, Barrow Neurosurgical Associates
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02445430
- Sponsor's protocol ID
- 15BN031
- Status last verified
- Sep 2021
- First submitted
- 11 May 2015
- Last updated
- 21 Sep 2021
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Arteriovenous Malformations
- ClinicalTrials.gov ID
- NCT02445430
- Acronym / sponsor ID
- 15BN031
- Conditions
- Arteriovenous Malformation
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 59 participants (actual)
- Lead sponsor
- St. Joseph's Hospital and Medical Center, PhoenixUniversity, hospital or other
- Collaborators
- Translational Genomics Research Institute, The Joe Niekro Foundation
- Study start
- May 2015 (actual)
- Primary completion
- 30 Jun 2022 (estimated)
- Study completion
- 30 Jun 2023 (estimated)
- First posted
- 15 May 2015 (estimated)
- 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.
The goal of this study is to identify genetic alterations resulting in the development of arteriovenous malformation (AVM) in the central nervous system.
Detailed description
The study will include AVM patients and members of their nuclear family. All patients will donate a sample of saliva (5 mL) or blood (10 mL). Basic demographic and clinical parameters will be collected, including ethnicity, age at first presentation, symptoms at presentation, history of subsequent symptoms, treatment history, Spetzler-Martin AVM grade, medication history, and other pertinent medical information. In patients undergoing AVM resection, a small sample of the AVM will be collected for concurrent genomic analysis. Family members will donate saliva (5mL) and document their relationship to the patient (i.e., parent, sibling, child, etcl). Nucleic acids will be isolated from the saliva/blood samples, and genetic sequencing will be carried out. When a surgical sample of the AVM is available, nucleic acids will be obtained and transcriptome profiling will be performed. Identification of genetic alterations common to patients with AVM and not present in samples from parents and siblings will greatly aid in identification of pathways associated with AVM formation. Candidate sequences will be chosen by differential expression (p<0.05) and fold-changes. Once identified, mechanisms for the rapid detection of marker sequences will be developed and their predictive value tested in future collections.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Male and female persons with AVM and their immediate family members
Key inclusion criteria (3 listed)
- Age between 6 and 60 years inclusive
- Diagnosis of AVM or nuclear family member of a patient with AVM
- Grants access to saliva, blood, and/or tissue
Key exclusion criteria (2 listed)
- Age less than 6 years or greater than 61 years
- Nuclear family members who do not share the same parents as the AVM patient
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
Identification of genetic alterations common to patients with AVM
Time frame: sample analysis will take an expected average of six weeks
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2021.
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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. This study is not recruiting at the moment.
Joseph Zabramski, MD principal investigator
Barrow Neurosurgical Associates
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Arteriovenous Malformation, run by St. Joseph's Hospital and Medical Center, Phoenix at 1 site in United States.
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 2 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: status not confirmed, as of the sponsor's last update on 21 Sep 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic alterations common to patients with AVM (time frame: sample analysis will take an expected average of six weeks). 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 21 Sep 2021; AzTrials last refreshed its copy on 31 Oct 2026.