Homozygous Familial HypercholesterolemiaNCT01878604
Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
An observational study of Homozygous Familial Hypercholesterolemia, run by Central South University at 1 site in China.
Trial summary
Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Homozygous Familial Hypercholesterolemia
- What is being tested?
- Gene analysis, Historical data of lipid-lowering drug administration and Historical data of plasma lipids, xanthoma changes
- How many people
- 5 participants
- Where
- 1 siteChina
- Study dates
- Oct 2001to Jan 2015
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Homozygous Familial Hypercholesterolemia
Who may be able to join
- Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:
- Cutaneous xanthomata before the age of ten years
- LDLC > 13 mmol/L before treatment or > 7.76 mmol/L despite treatment
- Phenotypic features in keeping with HeFH in both parents
Who cannot join
- Inability of patient, or, if less than 18, a parent, to sign informed consent.
Trial locations and contacts
1 site in 1 country.
China1 site
Cardiology department of 2nd Xiangya Hospital
Changsha, Hunan, 410011
About this study
Official title: The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.
Read the detailed description
To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies:
- To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees);
- To detect gene mutations known to cause FH and identify family suitable for future whole genome sequencing aimed to identify novel genes controlling cholesterol levels.
3.To establish the relationship between types of gene mutations and lipid and atherosclerosis profile, as well as responses to lipid-lowering agents.
- Conditions
- Homozygous Familial Hypercholesterolemia
- Being tested
- Gene analysis, Historical data of lipid-lowering drug administration, Historical data of plasma lipids, xanthoma changes
- Medical subject headings
- Homozygous Familial Hypercholesterolemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gene analysisGenetic
Gene analysis
Historical data of lipid-lowering drug administrationOther
Collecting historical data of lipid-lowering drug administration
Historical data of plasma lipids, xanthoma changesOther
Collecting historical data of plasma lipids and xanthoma changes
| Study group | Role | What they receive |
|---|---|---|
| Homozygous Familial Hypercholesterolemia | Gene Analysis for Homozygous Familial Hypercholesterolemia cases Receives: Genetic: Gene analysis; Other: Historical data of lipid-lowering drug administration; Other: Historical data of plasma lipids, xanthoma changes |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of LDLR Gene Mutations
Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes.
c.796 G>C and c.1048 C>T in the LDLR gene c.1448 G>A and c.1720C>A in the LDLR gene c.2030 G >A and c.1257 C>A in the LDLR gene homozygous mutation c.605 T>C in the LDLR gene
Measured: 1 year
Secondary outcomes (1)
LDL-C Reduction Percentage
plasma LDL-C reduction percentage with lipid-lowering drugs from pre-treatment to the last time follow-up time point
plasma LDL-C reduction percentage calculation: "plasma LDL-C at pre-treatment time point" minus "plasma LDL-C at the last time follow-up time point", and then compared with "plasma LDL-C at pre-treatment time point", namely "plasma LDL-C reduction percentage".
Measured: pre-treatment and 6-13 years post treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jun 2013 (estimated)
- Study startOct 2001
- Primary completionOct 2014
- Study completionJan 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Homozygous Familial HypercholesterolemiaStudies 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 only
- Time perspective
- Retrospective
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- Central South University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Shuiping Zhao, Central South University
- Investigators
- Shuiping Zhao, Doctor, Principal investigator, Central South University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01878604
- Sponsor's protocol ID
- MISP50469
- Status last verified
- Feb 2017
- First submitted
- 7 Jun 2013
- Last updated
- 20 Feb 2017
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Feb 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
- ClinicalTrials.gov ID
- NCT01878604
- Acronym / sponsor ID
- MISP50469
- Conditions
- Homozygous Familial Hypercholesterolemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- Central South UniversityUniversity, hospital or other
- Study start
- Oct 2001
- Primary completion
- Oct 2014 (actual)
- Study completion
- Jan 2015 (actual)
- First posted
- 17 Jun 2013 (estimated)
- Results
- Posted 20 Feb 2017
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.
Detailed description
To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies:
- To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees);
- To detect gene mutations known to cause FH and identify family suitable for future whole genome sequencing aimed to identify novel genes controlling cholesterol levels.
3.To establish the relationship between types of gene mutations and lipid and atherosclerosis profile, as well as responses to lipid-lowering agents.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Homozygous Familial Hypercholesterolemia | – | Genetic: Gene analysis, Other: Historical data of lipid-lowering drug administration, Other: Historical data of plasma lipids, xanthoma changesGene Analysis for Homozygous Familial Hypercholesterolemia cases |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Homozygous Familial Hypercholesterolemia
Key inclusion criteria (4 listed)
- Cutaneous xanthomata before the age of ten years
- LDLC > 13 mmol/L before treatment or > 7.76 mmol/L despite treatment
- Phenotypic features in keeping with HeFH in both parents
Key exclusion criteria (1 listed)
- Inability of patient, or, if less than 18, a parent, to sign informed consent.
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 |
|---|---|---|
| Gene analysisGene analysis | Genetic | Homozygous Familial Hypercholesterolemia |
| Historical data of lipid-lowering drug administrationCollecting historical data of lipid-lowering drug administration | Other | Homozygous Familial Hypercholesterolemia |
| Historical data of plasma lipids, xanthoma changesCollecting historical data of plasma lipids and xanthoma changes | Other | Homozygous Familial Hypercholesterolemia |
Primary outcome
Number of LDLR Gene Mutations
Time frame: 1 year
Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes. c.796 G>C and c.1048 C>T in the LDLR gene c.1448 G>A and c.1720C>A in the LDLR gene c.2030 G >A and c.1257 C>A in the LDLR gene homozygous mutation c.605 T>C in the LDLR gene
1 secondary outcome
LDL-C Reduction Percentage
Time frame: pre-treatment and 6-13 years post treatment
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Feb 2017.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
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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.
Shuiping Zhao, Doctor principal investigator
Central South 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 Homozygous Familial Hypercholesterolemia, run by Central South University at 1 site in China.
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 4 inclusion and 1 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 20 Feb 2017. 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 China. 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?
Yes. Results are posted in the registry (first posted 20 Feb 2017). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Number of LDLR Gene Mutations (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 20 Feb 2017.