Moyamoya DiseaseNCT04906564
RNF213 Variants and Collateral Vessels in Moyamoya Disease
An observational study of Moyamoya Disease, run by Beijing Tiantan Hospital at 1 site in China.
Trial summary
The purpose of this study is to detect the association between RNF213 variants and collateral vessels in patients with moyamoya disease. Read more about this study
- Who is it for?
- Ages 4 to 60 years
- Conditions the study is for
- Moyamoya Disease
- What is being tested?
- Identification of genetic variants
- How many people
- 300 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2019to 30 Jun 2021
- 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 4 to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Moyamoya disease patients
Who may be able to join
- Written informed consent is obtained
- Patients with age between 4-60 years
- Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals'
Who cannot join
- There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy
- Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement
- Physical or subjective failure to cooperate with the examination or serious comorbid diseases
Trial locations and contacts
1 site in 1 country.
China1 site
Beijing Tiantan Hospital Capital Medical University
Beijing, Beijing Municipality
About this study
The purpose of this study is to detect the association between RNF213 variants and collateral vessels in patients with moyamoya disease.
Read the detailed description
Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterized by the presence of occlusion which occurs at the internal carotid arteries and their main branches during the development of a basal collateral network. The ring finger 213 (RNF213) was identified as a strong susceptibility gene in patients with MMD in East Asia. The role of RNF213 variants in pathogenesis of MMD is still unclear. Specific "moyamoya vessels" correlate with the onset of stroke. The purpose of this study is to investigate the relationship between RNF213 variants and collateral vessels in patients with moyamoya disease, and provide potential pathogenesis of moyamoya disease.
- Conditions
- Moyamoya Disease
- Being tested
- Identification of genetic variants
- Keywords
- Moyamoya Disease, RNF213 Variants, Collateral Vessels
- Medical subject headings
- Moyamoya Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Identification of genetic variantsOther
Identification of genetic variants
| Study group | Role | What they receive |
|---|---|---|
| Moyamoya disease patients | Moyamoya disease patients' inclusion Criteria:
1. Written informed consent is obtained; 2. Patients with age between 4-60 years; 3. Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals'.
Exclusion Criteria:
1. There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy; 2. Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement; 3. Physical or subjective failure to cooperate with the examination or serious comorbid diseases. Receives: Other: Identification of genetic variants |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of RNF213 variants and different types of collateral vessels
Measured: Baseline
Secondary outcomes (3)
Identification of serum biomarkers and different types of collateral vessels
Hcy, HDL, LDL, ApoA, ApoB et al.
Measured: Baseline
Identification of clinical characteristics and different types of collateral vessels
Age, Gender, Clinical manifestations, Comorbidities, BMI et al.
Measured: Baseline
Identification of RNF213 variants, serum biomarkers, clinical characteristics and different types of postoperative collateral vessels
Measured: 6-12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 May 2021
- Study start1 Jan 2019
- Primary completion30 Jun 2021
- Study completion30 Jun 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Moyamoya DiseaseStudies of the same condition, open and under way.
- More trials run by Beijing Tiantan HospitalThe 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
- Prospective
- Enrolment
- 300 participants (actual)
Sponsor and investigators
- Lead sponsor
- Beijing Tiantan Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04906564
- Sponsor's protocol ID
- KY 2017-141-01
- Status last verified
- Feb 2022
- First submitted
- 25 May 2021
- Last updated
- 17 Feb 2022
- Results posted
- 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 17 Feb 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- RNF213 Variants and Collateral Vessels in Moyamoya Disease
- ClinicalTrials.gov ID
- NCT04906564
- Acronym / sponsor ID
- KY 2017-141-01
- Conditions
- Moyamoya Disease
- Keywords
- Moyamoya Disease, RNF213 Variants, Collateral Vessels
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 300 participants (actual)
- Lead sponsor
- Beijing Tiantan HospitalUniversity, hospital or other
- Study start
- 1 Jan 2019 (actual)
- Primary completion
- 30 Jun 2021 (actual)
- Study completion
- 30 Jun 2021 (actual)
- First posted
- 28 May 2021 (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.
The purpose of this study is to detect the association between RNF213 variants and collateral vessels in patients with moyamoya disease.
Detailed description
Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterized by the presence of occlusion which occurs at the internal carotid arteries and their main branches during the development of a basal collateral network. The ring finger 213 (RNF213) was identified as a strong susceptibility gene in patients with MMD in East Asia. The role of RNF213 variants in pathogenesis of MMD is still unclear. Specific "moyamoya vessels" correlate with the onset of stroke. The purpose of this study is to investigate the relationship between RNF213 variants and collateral vessels in patients with moyamoya disease, and provide potential pathogenesis of moyamoya disease.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Moyamoya disease patients | – | Other: Identification of genetic variantsMoyamoya disease patients' inclusion Criteria: 1. Written informed consent is obtained; 2. Patients with age between 4-60 years; 3. Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals'. Exclusion Criteria: 1. There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy; 2. Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement; 3. Physical or subjective failure to cooperate with the examination or serious comorbid diseases. |
Who may qualify
- Ages
- 4 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Moyamoya disease patients
Key inclusion criteria (3 listed)
- Written informed consent is obtained
- Patients with age between 4-60 years
- Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals'
Key exclusion criteria (3 listed)
- There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy
- Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement
- Physical or subjective failure to cooperate with the examination or serious comorbid diseases
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Identification of genetic variantsIdentification of genetic variants | Other | Moyamoya disease patients |
Primary outcome
Identification of RNF213 variants and different types of collateral vessels
Time frame: Baseline
3 secondary outcomes
Identification of serum biomarkers and different types of collateral vessels
Time frame: Baseline
Identification of clinical characteristics and different types of collateral vessels
Time frame: Baseline
Identification of RNF213 variants, serum biomarkers, clinical characteristics and different types of postoperative collateral vessels
Time frame: 6-12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Feb 2022.
- Individual participant dataSharing planned: No
Related trials for Moyamoya Disease
Enrolling by invitationEarly Phase 1
Clinical Evaluation of the Safety and Efficacy of "Buyan Huan Wu Tang" Combined With Atorvastatin in the Treatment of Atypical Pneumonia
Moyamoya Disease
Recruiting
Efficacy and Safety of Ischemic Preconditioning Therapy Versus Optimal Medical Therapy in Reducing the Recurrence of Ischemic Events in Symptomatic Moyamoya Disease
Moya Moya Disease, Moyamoya Syndrome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Enrolling by invitationEarly Phase 1
Clinical Safety and Efficacy Evaluation of the Blood-cooling and Stasis-removing Formula as an Adjunct to Atorvastatin in the Treatment of Hemorrhagic Moyamoya Disease.
Moyamoya Disease
RecruitingObservational study
Development and Validation of Risk Prediction Models for Stroke and Cognitive Impairment in Moyamoya Disease and Moyamoya Syndrome
Moyamoya Disease, Moyamoya Syndrome
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.
The record lists no contact. Use the official record to reach the sponsor.
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 Moyamoya Disease, run by Beijing Tiantan Hospital at 1 site in China.
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: finished, as of the sponsor's last update on 17 Feb 2022. 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 China. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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 RNF213 variants and different types of collateral vessels (time frame: Baseline). 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 17 Feb 2022.