Adolescent Idiopathic ScoliosisNCT06540924
Investigation of LBX1, TIMP2, GPR126 and CHD7 Gene Polymorphisms in Adolescent Idiopathic Scoliosis Patients
An observational study of Adolescent Idiopathic Scoliosis and Single Nucleotide Polymorphisms, run by Uludag University at 1 site in Turkey (Türkiye).
Trial summary
Adolescent Idiopathic Scoliosis (AIS) is a common disease of the spine observed in individuals aged 10-18 who typically do not have any other health issues. Despite numerous genetic studies conducted across different ethnic groups worldwide, the specific genes contributing to the development of scoliosis have not yet… Read more about this study
- Who is it for?
- Ages 10 to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Adolescent Idiopathic Scoliosis, Single Nucleotide Polymorphisms
- What is being tested?
- single nucleotide polymorphisms
- How many people
- 301 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 8 Jul 2022to 8 Jul 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 10 to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Individuals applying to Uludag University Orthopedics and Traumatology polyclinic.
Who may be able to join
- Study group
- Being diagnosed with Adolescent Idiopathic Scoliosis (AIS) between the ages of 10 and 18.
- Having a Cobb angle of 10 degrees or greater on a plain radiograph.
- Not having any known genetic disorders.
- Not having any diseases known to play a role in the etiology of scoliosis (degenerative, neuromuscular, congenital scoliosis, etc., are excluded).
- Control group
- Healthy individuals who have not been diagnosed with scoliosis by physical examination and/or imaging.
- Being between the ages of 10-18
Who cannot join
- Study group
- Those diagnosed with non-idiopathic scoliosis.
- Individuals who develop scoliosis after the age of 18.
- Individuals with scoliosis under the age of 10.
- Those diagnosed with a genetic disease.
- Those diagnosed with any disease known to play a role in the etiology of scoliosis.
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- Control group
- Those who have physical examination suspicion of scoliosis.
- Those with a Cobb angle of 10 degrees or more on plain radiographs.
Trial locations and contacts
1 site in 1 country.
About this study
Adolescent Idiopathic Scoliosis (AIS) is a common disease of the spine observed in individuals aged 10-18 who typically do not have any other health issues. Despite numerous genetic studies conducted across different ethnic groups worldwide, the specific genes contributing to the development of scoliosis have not yet been definitively identified. Therefore, the aim of our study is to investigate whether there is an etiological relationship between AIS and the polymorphisms of the LBX1 (rs11190870, rs625039, rs11598564), TIMP2 (rs8179090), GPR126 (rs6570507), and CHD7 (rs121434341) genes in the Turkish population and to determine the relationship of these polymorphisms with gender, age, age at diagnosis and Cobb angle in these patients.
Read the detailed description
This prospective genetic research was conducted Bursa Uludag University Faculty of Medicine, Department of Orthopedics and Traumatology. A total of 301 individuals were included in the study, comprising 201 patients aged 10-18 years diagnosed with AIS and Cobb angle of 10 degrees or more on direct radiography, no known genetic disorders and no diseases known to play a role in the etiology of scoliosis and 100 healthy controls aged 10-18 years without a diagnosis of scoliosis based on physical examination and/or imaging. In the study, the LBX1, TIMP2, GPR126 and CHD7 gene polymorphisms in AIS patients and the control group were analyzed using real-time PCR with TaqMan probe SNP (single nucleotide polymorphism) primers (rs625039, rs11598564, rs6570507, rs121434341, rs11190870, rs8179090). Subsequently, the SNP regions were confirmed by DNA sequence analysis. The obtained findings were statistically analyzed.
- Being tested
- single nucleotide polymorphisms
- Keywords
- Adolescent idiopathic scoliosis, genetic, single nucleotide polymorphism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
single nucleotide polymorphismsOther
The LBX1 (Ladybird Homeobox 1), TIMP2 (Tissue Inhibitor of Metalloprotease 2), GPR126 (G Protein-Coupled Receptor 126) and CHD7 (Chromodomain Helicase DNA Binding Protein 7) gene polymorphisms in adolescent idiopathic scoliosis patients and the control group were analyzed using real-time PCR with TaqMan probe SNP (single nucleotide polymorphism) primers (rs625039, rs11598564, rs6570507, rs121434341, rs11190870, rs8179090).
| Study group | Role | What they receive |
|---|---|---|
| Study group | Being diagnosed with Adolescent Idiopathic Scoliosis (AIS) between the ages of 10 and 18 group. Having a Cobb angle of 10 degrees or greater on a plain radiograph. Not having any known genetic disorders. Not having any diseases known to play a role in the etiology of scoliosis (degenerative, neuromuscular, congenital scoliosis, etc., are excluded). Receives: Other: single nucleotide polymorphisms | |
| Control group | Healthy individuals between the ages of 10-18 who do not have scoliosis by physical examination and/or imaging. Receives: Other: single nucleotide polymorphisms |
What is being measured
The primary outcome is the main question the study is designed to answer.
Investigation of LBX1, TIMP2, GPR126, and CHD7 Gene Polymorphisms in 201 Turkish Adolescents With Idiopathic Scoliosis
Despite numerous genetic studies conducted across different ethnic groups worldwide, the specific genes contributing to the development of scoliosis have not yet been definitively identified. Therefore, the aim of investigator is to investigate whether there is an etiological relationship between adolescent idiopathic scoliosis and the polymorphisms of the LBX1 (rs11190870, rs625039, rs11598564), TIMP2 (rs8179090), GPR126 (rs6570507), and CHD7 (rs121434341) genes in the Turkish population.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Aug 2024
- Study start8 Jul 2022
- Primary completion8 Dec 2022
- Study completion8 Jul 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Adolescent Idiopathic ScoliosisStudies 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
- 301 participants (actual)
Sponsor and investigators
- Lead sponsor
- Uludag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Erkan Bilgin, Uludag University
- Investigators
- Erkan Bilgin, Doctor, Principal investigator, Uludag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06540924
- Sponsor's protocol ID
- 2022-14/18
- Status last verified
- Aug 2024
- First submitted
- 30 Jul 2024
- Last updated
- 9 Aug 2024
- 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 9 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of LBX1, TIMP2, GPR126 and CHD7 Gene Polymorphisms in Adolescent Idiopathic Scoliosis Patients
- ClinicalTrials.gov ID
- NCT06540924
- Acronym / sponsor ID
- 2022-14/18
- Keywords
- Adolescent idiopathic scoliosis, genetic, single nucleotide polymorphism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 301 participants (actual)
- Lead sponsor
- Uludag UniversityUniversity, hospital or other
- Study start
- 8 Jul 2022 (actual)
- Primary completion
- 8 Dec 2022 (actual)
- Study completion
- 8 Jul 2023 (actual)
- First posted
- 6 Aug 2024 (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.
Adolescent Idiopathic Scoliosis (AIS) is a common disease of the spine observed in individuals aged 10-18 who typically do not have any other health issues. Despite numerous genetic studies conducted across different ethnic groups worldwide, the specific genes contributing to the development of scoliosis have not yet been definitively identified. Therefore, the aim of our study is to investigate whether there is an etiological relationship between AIS and the polymorphisms of the LBX1 (rs11190870, rs625039, rs11598564), TIMP2 (rs8179090), GPR126 (rs6570507), and CHD7 (rs121434341) genes in the Turkish population and to determine the relationship of these polymorphisms with gender, age, age at diagnosis and Cobb angle in these patients.
Detailed description
This prospective genetic research was conducted Bursa Uludag University Faculty of Medicine, Department of Orthopedics and Traumatology. A total of 301 individuals were included in the study, comprising 201 patients aged 10-18 years diagnosed with AIS and Cobb angle of 10 degrees or more on direct radiography, no known genetic disorders and no diseases known to play a role in the etiology of scoliosis and 100 healthy controls aged 10-18 years without a diagnosis of scoliosis based on physical examination and/or imaging. In the study, the LBX1, TIMP2, GPR126 and CHD7 gene polymorphisms in AIS patients and the control group were analyzed using real-time PCR with TaqMan probe SNP (single nucleotide polymorphism) primers (rs625039, rs11598564, rs6570507, rs121434341, rs11190870, rs8179090). Subsequently, the SNP regions were confirmed by DNA sequence analysis. The obtained findings were statistically analyzed.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Study group | – | Other: single nucleotide polymorphismsBeing diagnosed with Adolescent Idiopathic Scoliosis (AIS) between the ages of 10 and 18 group. Having a Cobb angle of 10 degrees or greater on a plain radiograph. Not having any known genetic disorders. Not having any diseases known to play a role in the etiology of scoliosis (degenerative, neuromuscular, congenital scoliosis, etc., are excluded). |
| Control group | – | Other: single nucleotide polymorphismsHealthy individuals between the ages of 10-18 who do not have scoliosis by physical examination and/or imaging. |
Who may qualify
- Ages
- 10 to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Individuals applying to Uludag University Orthopedics and Traumatology polyclinic.
Key inclusion criteria (8 listed)
- Study group
- Being diagnosed with Adolescent Idiopathic Scoliosis (AIS) between the ages of 10 and 18.
- Having a Cobb angle of 10 degrees or greater on a plain radiograph.
- Not having any known genetic disorders.
- Not having any diseases known to play a role in the etiology of scoliosis (degenerative, neuromuscular, congenital scoliosis, etc., are excluded).
Key exclusion criteria (9 listed)
- Study group
- Those diagnosed with non-idiopathic scoliosis.
- Individuals who develop scoliosis after the age of 18.
- Individuals with scoliosis under the age of 10.
- Those diagnosed with a genetic disease.
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 |
|---|---|---|
| single nucleotide polymorphismsThe LBX1 (Ladybird Homeobox 1), TIMP2 (Tissue Inhibitor of Metalloprotease 2), GPR126 (G Protein-Coupled Receptor 126) and CHD7 (Chromodomain Helicase DNA Binding Protein 7) gene polymorphisms in adolescent idiopathic scoliosis patients and the control group were analyzed using real-time PCR with TaqMan probe SNP (single nucleotide polymorphism) primers (rs625039, rs11598564, rs6570507, rs121434341, rs11190870, rs8179090). | Other | Control group, Study group |
Primary outcome
Investigation of LBX1, TIMP2, GPR126, and CHD7 Gene Polymorphisms in 201 Turkish Adolescents With Idiopathic Scoliosis
Time frame: 12 months
Despite numerous genetic studies conducted across different ethnic groups worldwide, the specific genes contributing to the development of scoliosis have not yet been definitively identified. Therefore, the aim of investigator is to investigate whether there is an etiological relationship between adolescent idiopathic scoliosis and the polymorphisms of the LBX1 (rs11190870, rs625039, rs11598564), TIMP2 (rs8179090), GPR126 (rs6570507), and CHD7 (rs121434341) genes in the Turkish population.
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 9 Aug 2024.
- 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. This study is not recruiting at the moment.
Erkan Bilgin, Doctor principal investigator
Uludag University
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 Adolescent Idiopathic Scoliosis and Single Nucleotide Polymorphisms, run by Uludag University at 1 site in Turkey (Türkiye).
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 8 inclusion and 9 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 9 Aug 2024. 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 Turkey (Türkiye). 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?
Investigation of LBX1, TIMP2, GPR126, and CHD7 Gene Polymorphisms in 201 Turkish Adolescents With Idiopathic Scoliosis (time frame: 12 months). 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 9 Aug 2024.