Myasthenia Gravis, OcularNCT05380128
Association Study Between VDR Gene Polymorphisms and Risk and Features of MG in Han Chinese Population
An observational study of Myasthenia Gravis, Ocular and Gene Polymorphism, run by Beijing Tongren Hospital at 1 site in China.
Trial summary
The Vitamin D receptor gene (VDR) polymorphisms are the candidate genetic variants for susceptibility to autoimmune diseases. In the present study, the investigators aimed to assess the association between VDR polymorphisms and myasthenia gravis (MG) susceptibility and disease features in Chinese Han population.The… Read more about this study
- Who is it for?
- Ages 16 years and olderHealthy volunteers can take part
- Conditions the study is for
- Myasthenia Gravis, Ocular, Gene Polymorphism
- What is being tested?
- Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms
- How many people
- 297 participants
- Where
- 1 siteChina
- Study dates
- 1 Jun 2017to 9 May 2022
- 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 16 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with confirmed myasthenia gravis and healthy volunteers.
Who may be able to join
- Clinical diagnosis of myasthenia gravis.
- Han Chinese population.
- Must be able to complete a 2-year follow-up visit.
Who cannot join
- Clinical data collection can not be completed.
- Poor compliance.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Association Study Between Vitamin D Receptor Gene Polymorphisms and Risk and Features of Myasthenia Gravis in Han Chinese Population
The Vitamin D receptor gene (VDR) polymorphisms are the candidate genetic variants for susceptibility to autoimmune diseases. In the present study, the investigators aimed to assess the association between VDR polymorphisms and myasthenia gravis (MG) susceptibility and disease features in Chinese Han population.The patients with MG and healthy controls were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms using the improved multiple ligase detection reaction. Information on age at onset, acetylcholine receptor antibody (AChR-Ab) and muscle-specific kinase antibody (MuSK-Ab) status, thymus status, involved muscles at onset and Osserman type at the maximum worsening during 2 years follow-up were obtained and used as the grouping basis of sub-classifications. Intergroup comparisons of allele and genotype frequencies, haplotype distributions were performed between MG group and the control group, and between each pair of MG subgroups.
- Conditions
- Myasthenia Gravis, Ocular, Gene Polymorphism
- Being tested
- Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms
- Medical subject headings
- Myasthenia Gravis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphismsGenetic
Genomic DNA was extracted from peripheral blood samples using a Wizard Genomic DNA Purification Kit (Promega, Madison,Wisconsin, USA) as per the product instruction. VDR (rs731236, rs1544410, rs7975232, rs2228570) polymorphisms were genotyped by the improved Multiple Ligase Detection Reaction (iMLDR) developed by Genesky Biotechnologies Inc. (Shanghai, China).
| Study group | Role | What they receive |
|---|---|---|
| MG group | Unrelated patients with MG were included in the study. They were enrolled in the Neurology Department of Beijing Tongren Hospital, Capital Medical University and fulfilled the clinical and electromyography diagnostic criteria for acquired MG. Simply, all MG patients met the following diagnostic criteria: typical symptoms of fluctuating muscle weakness, positive result of neostigmine test, and decremental response to low-frequency repetitive nerve stimulation. Information on age at onset, AChR / MuSK Abs status (partly), thymus status, involved muscles at onset and Osserman type at the maximum worsening during 2 years follow-up were obtained and used as the grouping basis of sub-classifications. They were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms Receives: Genetic: Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms | |
| Healthy control | The geography and ethnically matched control group consisted of 146 unrelated healthy subjects. They were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms. Receives: Genetic: Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms |
What is being measured
The primary outcome is the main question the study is designed to answer.
Association between VDR gene polymorphism and MG susceptibility
Codominant, dominant and recessive genetic models and haplotype analysis were applied to compare the difference between MG and control groups.
Measured: up to 2 years
Secondary outcomes (1)
Association of VDR gene polymorphism with MG subgroups
To study the precise effect of single nucleotide polymorphisms (SNPs) in the different population, the MG patients were divided into subgroups according to essential clinical variables, including onset age (≤50 or >50 years), thymus status (thymoma or non-thymoma, by pathology), AChR / MuSK Abs (positive or negative), onset involvement (ocular or generalized) and Osserman type at the maximum worsening (type I or IIa-IIb or III-V). The investigators analyzed the distribution of genes in each group.
Measured: up to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2022
- Study start1 Jun 2017
- Primary completion31 Dec 2019
- Study completion9 May 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Myasthenia Gravis, OcularStudies 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 297 participants (actual)
Sponsor and investigators
- Lead sponsor
- Beijing Tongren Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05380128
- Sponsor's protocol ID
- BeijingTH-20220509
- Status last verified
- May 2022
- First submitted
- 11 May 2022
- Last updated
- 18 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The IPD that support the findings of this study are available from the central contact person upon reasonable request.
Publications
Dai Y, Wu F, Ni S, Guo S, Lu L, Zhao X. Vitamin D receptor gene polymorphisms are associated with the risk and features of myasthenia gravis in the Han Chinese population. Immunol Res. 2023 Jun;71(3):404-412. doi: 10.1007/s12026-022-09349-x. Epub 2023 Jan 7.
PubMed 36609978
Study at a glance
From the registry record, last updated by the sponsor on 18 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Association Study Between Vitamin D Receptor Gene Polymorphisms and Risk and Features of Myasthenia Gravis in Han Chinese Population
- ClinicalTrials.gov ID
- NCT05380128
- Acronym / sponsor ID
- BeijingTH-20220509
- Conditions
- Myasthenia Gravis, Ocular, Gene Polymorphism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 297 participants (actual)
- Lead sponsor
- Beijing Tongren HospitalUniversity, hospital or other
- Study start
- 1 Jun 2017 (actual)
- Primary completion
- 31 Dec 2019 (actual)
- Study completion
- 9 May 2022 (actual)
- First posted
- 18 May 2022 (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 Vitamin D receptor gene (VDR) polymorphisms are the candidate genetic variants for susceptibility to autoimmune diseases. In the present study, the investigators aimed to assess the association between VDR polymorphisms and myasthenia gravis (MG) susceptibility and disease features in Chinese Han population.The patients with MG and healthy controls were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms using the improved multiple ligase detection reaction. Information on age at onset, acetylcholine receptor antibody (AChR-Ab) and muscle-specific kinase antibody (MuSK-Ab) status, thymus status, involved muscles at onset and Osserman type at the maximum worsening during 2 years follow-up were obtained and used as the grouping basis of sub-classifications. Intergroup comparisons of allele and genotype frequencies, haplotype distributions were performed between MG group and the control group, and between each pair of MG subgroups.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| MG group | – | Genetic: Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphismsUnrelated patients with MG were included in the study. They were enrolled in the Neurology Department of Beijing Tongren Hospital, Capital Medical University and fulfilled the clinical and electromyography diagnostic criteria for acquired MG. Simply, all MG patients met the following diagnostic criteria: typical symptoms of fluctuating muscle weakness, positive result of neostigmine test, and decremental response to low-frequency repetitive nerve stimulation. Information on age at onset, AChR / MuSK Abs status (partly), thymus status, involved muscles at onset and Osserman type at the maximum worsening during 2 years follow-up were obtained and used as the grouping basis of sub-classifications. They were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms |
| Healthy control | – | Genetic: Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphismsThe geography and ethnically matched control group consisted of 146 unrelated healthy subjects. They were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms. |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with confirmed myasthenia gravis and healthy volunteers.
Key inclusion criteria (3 listed)
- Clinical diagnosis of myasthenia gravis.
- Han Chinese population.
- Must be able to complete a 2-year follow-up visit.
Key exclusion criteria (2 listed)
- Clinical data collection can not be completed.
- Poor compliance.
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 |
|---|---|---|
| Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphismsGenomic DNA was extracted from peripheral blood samples using a Wizard Genomic DNA Purification Kit (Promega, Madison,Wisconsin, USA) as per the product instruction. VDR (rs731236, rs1544410, rs7975232, rs2228570) polymorphisms were genotyped by the improved Multiple Ligase Detection Reaction (iMLDR) developed by Genesky Biotechnologies Inc. (Shanghai, China). | Genetic | Healthy control, MG group |
Primary outcome
Association between VDR gene polymorphism and MG susceptibility
Time frame: up to 2 years
Codominant, dominant and recessive genetic models and haplotype analysis were applied to compare the difference between MG and control groups.
1 secondary outcome
Association of VDR gene polymorphism with MG subgroups
Time frame: up to 2 years
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 18 May 2022.
- Derived from this study: PubMed 36609978Dai Y, Wu F, Ni S, Guo S, Lu L, Zhao X. Vitamin D receptor gene polymorphisms are associated with the risk and features of myasthenia gravis in the Han Chinese population. Immunol Res. 2023 Jun;71(3):404-412. doi: 10.1007/s12026-022-09349-x. Epub 2023 Jan 7.
- Individual participant dataSharing planned: No. The IPD that support the findings of this study are available from the central contact person upon reasonable request.
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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.
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 Myasthenia Gravis, Ocular and Gene Polymorphism, run by Beijing Tongren 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 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: finished, as of the sponsor's last update on 18 May 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?
Association between VDR gene polymorphism and MG susceptibility (time frame: up to 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05380128, which also lists 1 linked publication.
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 18 May 2022.