Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01878604
Recruitment Status : Completed
First Posted : June 17, 2013
Results First Posted : February 20, 2017
Last Update Posted : February 20, 2017
Information provided by (Responsible Party):
Shuiping Zhao, Central South University

Study Type: Observational
Study Design: Observational Model: Case-Only;   Time Perspective: Retrospective
Condition: Homozygous Familial Hypercholesterolemia
Interventions: Genetic: Gene analysis
Other: Historical data of lipid-lowering drug administration
Other: Historical data of plasma lipids, xanthoma changes

  Participant Flow

Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
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Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
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Reporting Groups
Homozygous Familial Hypercholesterolemia

Gene Analysis for Homozygous Familial Hypercholesterolemia cases

Gene analysis: Gene analysis

Participant Flow:   Overall Study
    Homozygous Familial Hypercholesterolemia

  Baseline Characteristics

Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
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Reporting Groups
Patients of HoFH patients of Homozygous Familial Hypercholesterolemia

Baseline Measures
   Patients of HoFH 
Overall Participants Analyzed 
[Units: Participants]
[Units: Year]
Mean (Standard Deviation)
 5  (1) 
Sex: Female, Male 
[Units: Participants]
Count of Participants
Female      2  40.0% 
Male      3  60.0% 
plasma LDL cholesterol concentration 
[Units: mmol/L]
Mean (Standard Deviation)
 17.55  (2.34) 

  Outcome Measures

1.  Primary:   Number of LDLR Gene Mutations   [ Time Frame: 1 year ]

2.  Secondary:   LDL-C Reduction Percentage   [ Time Frame: pre-treatment and 6-13 years post treatment ]

  Serious Adverse Events

  Other Adverse Events

  Limitations and Caveats

Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
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  More Information

Certain Agreements:  
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.

Results Point of Contact:  
Name/Title: Shuiping Zhao
Organization: Central South University
phone: 86-731-85295806

Responsible Party: Shuiping Zhao, Central South University Identifier: NCT01878604     History of Changes
Other Study ID Numbers: MISP50469
First Submitted: June 7, 2013
First Posted: June 17, 2013
Results First Submitted: October 31, 2016
Results First Posted: February 20, 2017
Last Update Posted: February 20, 2017