The Role of Genetic Factors in the Development of Idiopathic Scoliosis in the Kazakh Population

NCT05095129 | Completed

• 1 other identifier: 1192
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to identify genetic determinants of susceptibility to idiopathic scoliosis . It will assist in predicting individual risks of disease progression and would help to clarify pathophysiologic mechanisms of idiopathic scoliosis

Conditions

Idiopathic Scoliosis

Keywords

SNP

Outcome Measures

Primary Outcomes (1)

• Genotyping for the SNP associated with liver cirrhosis

  Genotype frequency of SNP in the study genes of participants and control participants.

  1 year

Study Arms (2)

Experimental group:

patients with idiopathic scoliosis

Genetic: SNP analysis of the DNA

Control group

patients without idiopathic scoliosis

Genetic: SNP analysis of the DNA

Interventions

SNP analysis of the DNA GENETIC

SNP analysis of the DNA obtained from peripheral blood sample

Control group; Experimental group:

Eligibility Criteria

• Age: 4 Years - 40 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Persons of Kazakh nationality

You may qualify if:

• Persons with a doctor-confirmed diagnosis of idiopathic scoliosis;
• Persons of Kazakh nationality, whose paternal and maternal grandparents are Kazakhs;
• Hereditary history of scoliosis;
• Persons who are able and willing to provide written informed consent;

You may not qualify if:

• Patients diagnosed with idiopathic scoliosis under 4 and over 40 years of age;
• Representatives of the Kazakh ethnic group less than 3 generations;
• No family history of bilateral idiopathic scoliosis;
• Patients with an acute period of the inflammatory process (laboratory and clinical signs);
• Persons who, in the opinion of the researcher, are mentally or legally incapacitated, which prevents obtaining informed consent;
• Pregnant or lactating women;
• Tuberculosis of any localization in the active phase and in history;
• Severe and decompensated diseases of the liver and kidneys, cardiovascular system;
• Severe and decompensated course of endocrine diseases;
• Autoimmune diseases;
• Systemic diseases;
• Oncological diseases;

Sponsors & Collaborators

• Asfendiyarov Kazakh National Medical University: lead

Study Sites (1)

Scientific center of traumatology and orthopedics named after academician Batpenova ND

Almaty, Kazakhstan

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood

Study Officials

• Oljas Bekarïsov, PhD

  Scientific center of traumatology and orthopedics named after academician Batpenova ND

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of the Laboratory of Experimental Medicine

Study Record Dates

• First Submitted: October 21, 2021
• First Posted: October 27, 2021
• Study Start: March 23, 2022
• Primary Completion: January 20, 2023
• Study Completion: January 20, 2023
• Last Updated: March 14, 2023

Record last verified: 2023-03

Locations

KA (1)