Trial Outcomes & Findings for Cerebrotendinous Xanthomatosis (CTX) Prevalence Study (NCT NCT02638220)

NCT ID: NCT02638220

Last Updated: 2024-09-19

Results Overview

genetic test results

• Recruitment status: COMPLETED
• Target enrollment: 442 participants
• Primary outcome timeframe: At genetic testing
• Results posted on: 2024-09-19

Participant Flow

Data were collected from 05 November 2015 through study completion on 19 February 2021.There were 43 sites in the United States included in the study.

Participant milestones

Measure	Participants With CTX Patients must have been between the ages of 2 and 21 at the time of diagnosis with idiopathic bilateral cataracts. Patients were excluded from the study if they had a diagnosis of cataracts with known etiology other than CTX, had cataracts caused by cataractogenic treatments, or the patient was taking cholic acid or chenodeoxycholic acid.
Overall Study STARTED	442
Overall Study COMPLETED	426
Overall Study NOT COMPLETED	16

Reasons for withdrawal

Measure	Participants With CTX Patients must have been between the ages of 2 and 21 at the time of diagnosis with idiopathic bilateral cataracts. Patients were excluded from the study if they had a diagnosis of cataracts with known etiology other than CTX, had cataracts caused by cataractogenic treatments, or the patient was taking cholic acid or chenodeoxycholic acid.
Overall Study Lost to Follow-up	6
Overall Study Withdrawal by Subject	3
Overall Study Physician Decision	1
Overall Study Withdrawn, sample error, non-adherence, illness	6

Baseline Characteristics

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

Baseline characteristics by cohort

Measure	Observational n=442 Participants Patients must have been between the ages of 2 and 21 at the time of diagnosis with idiopathic bilateral cataracts. Patients were excluded from the study if they had a diagnosis of cataracts with known etiology other than CTX, had cataracts caused by cataractogenic treatments, or the patient was taking cholic acid or chenodeoxycholic acid.
Age, Continuous	11.1 years n=5 Participants
Sex: Female, Male Female	206 Participants n=5 Participants
Sex: Female, Male Male	236 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	71 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	340 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	31 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	17 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	4 Participants n=5 Participants
Race (NIH/OMB) Black or African American	62 Participants n=5 Participants
Race (NIH/OMB) White	296 Participants n=5 Participants
Race (NIH/OMB) More than one race	22 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	41 Participants n=5 Participants
Region of Enrollment United States	442 participants n=5 Participants

PRIMARY outcome

Timeframe: At genetic testing

genetic test results

Outcome measures

Measure	Participants With CTX n=442 Participants Participants with bilateral cataracts and CTX
Number of Participants Who Had Positive Genetic Test Results	4 Participants

Adverse Events

Observational

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

Cheryl Wong Po Foo/Director, Clinical Development

Travere Therapeutics, Inc.

Phone: 8889697879

Email: cheryl.wongpofoo@travere.com

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place