Cerebrotendinous Xanthomatosis (CTX)
Conditions
Keywords
Cerebrotendinous Xanthomatosis, CTX Prevalence Study, CTX, Idiopathic Bilateral Cataracts, Cataracts, Bilateral Cataracts, Early-Onset Idiopathic Bilateral Cataracts, Observational Study, Ophthalmology
Brief summary
Iiopathic bilateral cataracts occur in many children with Cerebrotendinous Xanthomatosis (CTX) so the opportunity to use contact with health care providers in connection with pediatric cataract evaluation and treatment is a promising avenue for disease detection and prevention.
Detailed description
This is an observational, multicenter study to determine the prevalence of Cerebrotendinous Xanthomatosis (CTX) in patient populations diagnosed with early-onset idiopathic bilateral cataracts. Patients who are potentially eligible for study participation will be identified through a chart review of patients who were seen at each study site prior to that site's initiation, or by entering care at the site while the site is participating in the trial.
Interventions
None listed
Sponsors
Travere Therapeutics, Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Years to 21 Years
Healthy volunteers
No
Inclusion criteria
1. The patient has a diagnosis of idiopathic bilateral cataracts 2. Between the ages of 2 to 21 years at the time of diagnosis
Exclusion criteria
1. The patient has a diagnosis of cataracts with known etiology other than CTX 2. The patient has a diagnosis of CTX 3. The patient has cataracts caused by cataractogenic treatments 4. The patient has taken or is currently taking cholic acid or chenodeoxycholic acid 5. The patient has participated in an interventional clinical trial in the past 30 days 6. The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants Who Had Positive Genetic Test Results | At genetic testing | genetic test results |
Countries
United States
Participant flow
Recruitment details
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.
Participants by arm
| Arm | Count |
|---|---|
| Observational 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. | 442 |
| Total | 442 |
Withdrawals & dropouts
| Period | Reason | FG000 |
|---|---|---|
| Overall Study | Lost to Follow-up | 6 |
| Overall Study | Physician Decision | 1 |
| Overall Study | Withdrawal by Subject | 3 |
| Overall Study | Withdrawn, sample error, non-adherence, illness | 6 |
Baseline characteristics
| Characteristic | Observational |
|---|---|
| Age, Continuous | 11.1 years |
| Ethnicity (NIH/OMB) Hispanic or Latino | 71 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 340 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 31 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 17 Participants |
| Race (NIH/OMB) Black or African American | 62 Participants |
| Race (NIH/OMB) More than one race | 22 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 4 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 41 Participants |
| Race (NIH/OMB) White | 296 Participants |
| Region of Enrollment United States | 442 participants |
| Sex: Female, Male Female | 206 Participants |
| Sex: Female, Male Male | 236 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 442 |
| other Total, other adverse events | 0 / 442 |
| serious Total, serious adverse events | 0 / 442 |
Outcome results
Primary
Number of Participants Who Had Positive Genetic Test Results
genetic test results
Time frame: At genetic testing
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Participants With CTX | Number of Participants Who Had Positive Genetic Test Results | 4 Participants |