- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04218006
A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) (F-GENE)
A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) in Families With Kinship Bonds and at Least One Homozygous Patient
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
WORK DESIGN STAGES:
The CTX index case will be identified and the CTX genetics will be reapproved. The following steps will be provided for all cases.
- Re-validation of CTX genetics: Cases of CTX indexes that are unrelated and clearly identified the CTX homozygous inheritance identified in the CYP27A1 gene by kinship.
- Documenting the nuclear and extended family structure and extracting family trees (interview with index cases and parents of index cases)
- Documentation of all potential symptoms compatible with CTX disease, including data based on the CTX suspicion index (Mignarri Index) in the nuclear and extended family
- Documentation of patients who have died due to unexpected death or unwillingness to participate in the study.
- 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.
- Collecting blood samples from index cases and, where possible, all nuclear family members (such as parents and siblings)
The target cohort will be defined in each family according to the interview results. If the study physician predicts that there are fewer than 50 patients in a large family for the study and follow-up period, this family will be excluded from the study. The initial objective will be to involve grandparents, all their children, married wives and grandchildren. This choice can be adapted by the physician depending on the special situation in the family according to the results of individuals who have undergone genetic mutation tests in the nuclear family, if any, and the definition of nuclear and extended relatives may change in consanguineous families. All extended family members of each identified CTX case will be invited to perform the following steps:
- Genetic counseling (ideally per family)
- 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) and no samples will be stored after the analysis and all samples will be destroyed. Documentation of key data for each case
- Confirming that the family tree is correctly identified.
- Documenting patients who have died due to unexpected death or unwillingness to participate in the study.
- Perform limited neurological examination for key signs and symptoms and document it according to the CTX suspicion index (Mignarri Index).
- Testing all samples by DNA sequencing for the identified mutation analysis. According to the results, large family cohort will be extracted. In some families, this number can reach up to 600-800 cases.
- Re-inviting all study cases with disease genotypes for extended neurological examination and medical / genetic counseling.
- To offer genetic counseling to all study patients with carrier genotypes so that they can make informed decisions about marriage and the next generation (the study coordinator will propose the medical follow-up of new cases diagnosed genetically as CTX).
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Locations
-
-
-
Osmaniye, Turkey
- Osmaniye / Index Case 1 Family Village
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- 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.
Exclusion Criteria:
- 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.
Study Plan
How is the study designed?
Design Details
- Observational Models: Family-Based
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Frequency of CTX mutation
Time Frame: 1 year
|
Frequency of CTX mutation (affected or carrier mutation) among relatives
|
1 year
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Signs or symptoms compatible with CTX disease
Time Frame: 1 year
|
Proportion of cases and relatives with current and / or past signs or symptoms compatible with CTX disease
|
1 year
|
Mignarri Index
Time Frame: 1 Year
|
CTX disease scoring index values
|
1 Year
|
Pedigree
Time Frame: 1 year
|
A family tree of the index case
|
1 year
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Hasan Onal, Asc. Prof., Kanuni Sultan Suleyman University Hospital, Pedaitric Metabolism
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- TR-CTX-003
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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