A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)

NCT04218006 | Unknown

• 1 other identifier: TR-CTX-003
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

This is a prospective, non-drug epidemological cohort study aimed to investigate the relatives of these cases with CTX-specific gene mutation and clinical features of CTX disease over CTX index cases diagnosed with CTX disease throughout the clinics in Turkey. Relatives included in the study (relatives of CTX index cases) will be taken into clinical and genetic evaluation. Relatives will not receive any experimental intervention or treatment because of their participation in the study. Therefore, this study does not include a treatment protocol or does not have a predetermined visit flow chart. However, relatives of CTX index cases should give consent to genetic testing.

Conditions

Xanthomatosis, Cerebrotendinous

Keywords

CTX, Relatives, Index Cases, Kinship, Pedigree

Outcome Measures

Primary Outcomes (1)

• Frequency of CTX mutation

  Frequency of CTX mutation (affected or carrier mutation) among relatives

  1 year

Secondary Outcomes (3)

• Signs or symptoms compatible with CTX disease

  1 year

• Mignarri Index

  1 Year

• Pedigree

  1 year

Interventions

Mutation Analysis GENETIC

Specific members of nuclear and extended family relatives will be contacted to propose genetic counseling. Approvals for genetic testing will be asked and necessary information forms will be provided. A total of 5 ml of blood will be collected from each patient for DNA analysis. Blood samples will be analyzed at the Damagen Genetic Diagnosis Center (Ankara), after which no samples will be stored and all samples will be destroyed.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The family of each CTX index case should have more than 50 members in at least three generations. All the family members of the CTX index cases will be asked for sampling.

You may qualify if:

• The family of each CTX index case should have more than 50 members in at least three generations.
• CTX index cases should be from different families.
• Index cases and relatives and / or legal representatives are required to be willing to give written informed consent.

You may not qualify if:

• Relatives of unconfirmed CTX index cases or non-homozygous CTX patients for disease-causing CTX mutation.
• The patient and / or his / her legal representative does not consent to participate in the study.

Sponsors & Collaborators

• TRPHARM: lead
• Klinar CRO: collaborator
• Damagen Genetic Diagnostic Center: collaborator

Study Sites (1)

Osmaniye / Index Case 1 Family Village

Osmaniye, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITH DNA

Specific members of nuclear and extended family relatives will be contacted to propose genetic counseling. Approvals for genetic testing will be asked and necessary information forms will be provided. A total of 5 ml of blood will be collected from each patient for DNA analysis. Blood samples will be analyzed at the Damagen Genetic Diagnosis Center (Ankara), after which no samples will be stored and all samples will be destroyed.

MeSH Terms

Conditions

Xanthomatosis, Cerebrotendinous

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Xanthomatosis

Study Officials

• Hasan Onal, Asc. Prof.

  Kanuni Sultan Suleyman University Hospital, Pedaitric Metabolism

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 2, 2020
• First Posted: January 6, 2020
• Study Start: December 1, 2019
• Primary Completion: December 1, 2021
• Study Completion: March 1, 2022
• Last Updated: April 1, 2021

Record last verified: 2021-03

Locations

TU (1)