Trial Outcomes & Findings for Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia (NCT NCT01878604)

Results Overview

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

Recruitment status

COMPLETED

Target enrollment

5 participants

Primary outcome timeframe

1 year

Results posted on

2017-02-20

Participant Flow

Participant milestones

Participant milestones
Measure	Homozygous Familial Hypercholesterolemia Gene Analysis for Homozygous Familial Hypercholesterolemia cases Gene analysis: Gene analysis
Overall Study STARTED	5
Overall Study COMPLETED	5
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Patients of HoFH n=5 Participants patients of Homozygous Familial Hypercholesterolemia
Age, Continuous	5 year STANDARD_DEVIATION 1 • n=5 Participants
Sex: Female, Male Female	2 Participants n=5 Participants
Sex: Female, Male Male	3 Participants n=5 Participants
plasma LDL cholesterol concentration	17.55 mmol/L STANDARD_DEVIATION 2.34 • n=5 Participants

PRIMARY outcome

Timeframe: 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

Outcome measures

Outcome measures
Measure	HoFH Patients n=5 Participants HoFH patients
Number of LDLR Gene Mutations	7 gene mutations

SECONDARY outcome

Timeframe: pre-treatment and 6-13 years post treatment

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".

Outcome measures

Outcome measures
Measure	HoFH Patients n=5 Participants HoFH patients
LDL-C Reduction Percentage	48.16 percentage of plasma LDL-C reduction Standard Error 8.5981

Adverse Events

HoFH Patients

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Shuiping Zhao

Central South University

Phone: 86-731-85295806

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place