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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.
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Number of Participants Who Had Positive Genetic Test Results | genetic test results | At genetic testing |
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Inclusion Criteria:
Exclusion Criteria:
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Early-Onset Idiopathic Bilateral Cataracts
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| Name | Affiliation | Role |
|---|---|---|
| Executive Director, Clinical Development Nephrology | Travere Therapeutics, Inc. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Travere Investigational Site | Birmingham | Alabama | 35294 | United States | ||
| Travere Investigational Site |
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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.
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| ID | Title | Description |
|---|---|---|
| FG000 | 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. |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Dec 13, 2016 | Oct 27, 2023 |
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| La Jolla |
| California |
| 92093 |
| United States |
| Travere Investigational Site | Los Angeles | California | 90027 | United States |
| Travere Investigational Site | Los Angeles | California | 90095 | United States |
| Travere Investigational Site | Palo Alto | California | 94303 | United States |
| Travere Investigational Site | Aurora | Colorado | 80045 | United States |
| Travere Investigational Site | Gainesville | Florida | 32608 | United States |
| Travere Investigational Site | Jacksonville | Florida | 32207 | United States |
| Travere Investigational Site | Atlanta | Georgia | 30322 | United States |
| Travere Investigational Site | Chicago | Illinois | 60611 | United States |
| Travere Investigational Site | Indianapolis | Indiana | 46202 | United States |
| Travere Investigational Site | Iowa City | Iowa | 52242 | United States |
| Travere Investigational Site | Louisville | Kentucky | 40202 | United States |
| Travere Investigational Site | New Orleans | Louisiana | 70121 | United States |
| Travere Investigational Site | Baltimore | Maryland | 21201 | United States |
| Travere Investigational Site | Boston | Massachusetts | 02115 | United States |
| Travere Investigational Site | Ann Arbor | Michigan | 48105 | United States |
| Travere Investigational Site | Detroit | Michigan | 48201 | United States |
| Travere Investigational Site | Kansas City | Missouri | 64108 | United States |
| Travere Investigational Site | St Louis | Missouri | 63103 | United States |
| Travere Investigational Site | The Bronx | New York | 10467 | United States |
| Travere Investigational Site | Chapel Hill | North Carolina | 27517 | United States |
| Travere Investigational Site | Durham | North Carolina | 27708 | United States |
| Travere Investigational Site | Cincinnati | Ohio | 45229 | United States |
| Travere Investigational Site | Cleveland | Ohio | 44106 | United States |
| Travere Investigational Site | Columbus | Ohio | 43205 | United States |
| Travere Investigational Site | Oklahoma City | Oklahoma | 73104 | United States |
| Travere Investigational Site | Portland | Oregon | 97239-3098 | United States |
| Travere Investigational Site | Tigard | Oregon | 97223 | United States |
| Travere Investigational Site | Philadelphia | Pennsylvania | 19104 | United States |
| Travere Investigational Site | Philadelphia | Pennsylvania | 19107 | United States |
| Travere Investigational Site | Charleston | South Carolina | 29425 | United States |
| Travere Investigational Site | Germantown | Tennessee | 38103 | United States |
| Travere Investigational Site | Nashville | Tennessee | 37232 | United States |
| Travere Investigational Site | Houston | Texas | 77025 | United States |
| Travere Investigational Site | Houston | Texas | 77030 | United States |
| Travere Investigational Site | Salt Lake City | Utah | 84113 | United States |
| Travere Investigational Site | Norfolk | Virginia | 23502 | United States |
| Travere Investigational Site | Richmond | Virginia | 23298 | United States |
| Travere Investigational Site | Seattle | Washington | 98105 | United States |
| Travere Investigational Site | Spokane | Washington | 99204 | United States |
| Travere Investigational Site | Tacoma | Washington | 98405 | United States |
| Travere Investigational Site | Morgantown | West Virginia | 26506 | United States |
| Travere Investigational Site | Milwaukee | Wisconsin | 53226 | United States |
| COMPLETED |
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| NOT COMPLETED |
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| ID | Title | Description |
|---|---|---|
| BG000 | 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. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean | Full Range | years |
| |||||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
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| Ethnicity (NIH/OMB) | Count of Participants | Participants |
| ||||||||||||||||||
| Race (NIH/OMB) | Count of Participants | Participants |
| ||||||||||||||||||
| Region of Enrollment | Number | participants |
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| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Number of Participants Who Had Positive Genetic Test Results | genetic test results | Posted | Number | Participants | At genetic testing |
|
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|
4 hours
Only Serious Adverse Events (SAEs) that were related to a research procedure (eg, blood sample collection) were to be recorded.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | 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. | 0 | 442 | 0 | 442 | 0 | 442 |
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This was an observational study; no treatment was administered and therefore no efficacy assessment was conducted. The results presented are used to evaluate the prevalence of CTX in a patient population diagnosed with early-onset idiopathic bilateral cataracts.
Only SAEs that were related to a research procedure (eg, blood sample collection) were to be recorded.
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Cheryl Wong Po Foo/Director, Clinical Development | Travere Therapeutics, Inc. | 8889697879 | cheryl.wongpofoo@travere.com |
| Prot_000.pdf |
| SAP | No | Yes | No | Statistical Analysis Plan | May 28, 2021 | Feb 7, 2022 | SAP_001.pdf |
| ID | Term |
|---|---|
| D019294 | Xanthomatosis, Cerebrotendinous |
| D002386 | Cataract |
| ID | Term |
|---|---|
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D014973 | Xanthomatosis |
| D007905 | Lens Diseases |
| D005128 | Eye Diseases |
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| Unknown or Not Reported |
|
| Native Hawaiian or Other Pacific Islander |
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| Black or African American |
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| White |
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| More than one race |
|
| Unknown or Not Reported |
|