Xanthomatosis, CerebrotendinousF-GENENCT04218006
A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)
An observational study of Xanthomatosis, Cerebrotendinous, run by TRPHARM at 1 site in Turkey (Türkiye).
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Xanthomatosis, Cerebrotendinous
- What is being tested?
- Mutation Analysis
- How many people
- 800 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Dec 2019to Mar 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
Osmaniye / Index Case 1 Family Village
Osmaniye
About this study
Official title: A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) in Families With Kinship Bonds and at Least One Homozygous Patient
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.
Read the 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).
- Conditions
- Xanthomatosis, Cerebrotendinous
- Being tested
- Mutation Analysis
- Keywords
- CTX, Relatives, Index Cases, Kinship, Pedigree
- Medical subject headings
- Xanthomatosis, Cerebrotendinous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Mutation AnalysisGenetic
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of CTX mutation
Frequency of CTX mutation (affected or carrier mutation) among relatives
Measured: 1 year
Secondary outcomes (3)
Signs or symptoms compatible with CTX disease
Proportion of cases and relatives with current and / or past signs or symptoms compatible with CTX disease
Measured: 1 year
Mignarri Index
CTX disease scoring index values
Measured: 1 Year
Pedigree
A family tree of the index case
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jan 2020
- Study start1 Dec 2019
- Primary completionDec 2021 (estimated)
- Study completionMar 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Xanthomatosis, CerebrotendinousStudies 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- TRPHARM
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Klinar CRO, Damagen Genetic Diagnostic Center
- Responsible party
- Sponsor
- Investigators
- Hasan Onal, Asc. Prof., Principal investigator, Kanuni Sultan Suleyman University Hospital, Pedaitric Metabolism
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04218006
- Sponsor's protocol ID
- TR-CTX-003
- Acronym
- F-GENE
- Status last verified
- Mar 2021
- First submitted
- 2 Jan 2020
- Last updated
- 1 Apr 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) in Families With Kinship Bonds and at Least One Homozygous Patient
- ClinicalTrials.gov ID
- NCT04218006
- Acronym / sponsor ID
- F-GENE / TR-CTX-003
- Conditions
- Xanthomatosis, Cerebrotendinous
- Keywords
- CTX, Relatives, Index Cases, Kinship, Pedigree
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 800 participants (estimated)
- Lead sponsor
- TRPHARMIndustry (pharma, biotech, devices)
- Collaborators
- Klinar CRO, Damagen Genetic Diagnostic Center
- Study start
- 1 Dec 2019 (actual)
- Primary completion
- Dec 2021 (estimated)
- Study completion
- Mar 2022 (estimated)
- First posted
- 6 Jan 2020 (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.
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.
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 design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
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 |
|---|---|---|
| Mutation AnalysisSpecific 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. | Genetic | – |
Primary outcome
Frequency of CTX mutation
Time frame: 1 year
Frequency of CTX mutation (affected or carrier mutation) among relatives
3 secondary outcomes
Signs or symptoms compatible with CTX disease
Time frame: 1 year
Mignarri Index
Time frame: 1 Year
Pedigree
Time frame: 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2021.
- Individual participant dataSharing planned: Undecided
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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.
Hasan Onal, Asc. Prof. principal investigator
Kanuni Sultan Suleyman University Hospital, Pedaitric Metabolism
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 Xanthomatosis, Cerebrotendinous, run by TRPHARM 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 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: status not confirmed, as of the sponsor's last update on 1 Apr 2021. 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?
Results are not available in the source record.
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?
Frequency of CTX mutation (time frame: 1 year). 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 1 Apr 2021.