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NCT04113083: GEN-EYE-II
An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease
trial testing Blood sampling for cholestanol analysis in CTX - Cerebrotendinous Xanthomatosis in 22 participants. Terminated before completion.
16 March 2022
Quick facts
| Lead sponsor | TRPHARM |
|---|---|
| Status | Terminated |
| Study type | OBSERVATIONAL |
| Enrollment | 22 |
| Start date | 19 October 2019 |
| Primary completion | 16 March 2022 |
| Estimated completion | 10 June 2022 |
| Sites | 22 locations across Turkey (Türkiye) |
Drugs / interventions tested
- Blood sampling for cholestanol analysis
Conditions studied
- CTX - Cerebrotendinous Xanthomatosis — all drugs for CTX - Cerebrotendinous Xanthomatosis →
Sponsor
TRPHARM — full company profile →
Who can join
Under 40, any sex, with CTX - Cerebrotendinous Xanthomatosis. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The prevalence of CTX in our country is estimated to be 1 / 50.000. The aim of this study is to screen more volunteers by conducting a larger screening from neurology and pediatric metabolism clinics in Turkey. This observational study was designed retrospectively and prospectively in two stages. In the retrospective section, the patient database and / or patient files will be screened in the neurology and pediatric metabolism clinics and the patients aged 40 and below in the neurology clinics with at least two of the following will be enrolled to the study: * Ataxia and / or spasticity * Bilateral cataract (except senile cataract) * Intellectual limitation * Non-enhancing hyperintensity on T2 sections in MR imaging of dentate nuclei * Autosomal recessive transition pattern. (Ex: Relative Marriage) In the pediatric metabolism centers, cases suspected of CTX and planned to apply the Mignarri Index according to the investigator's opinion will be identified.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT04113083
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Related trials
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Trials by the same sponsor.
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- NCT05300347 — Observational Study Evaluating the Prevalence of Enzyme Deficiency in Pulmonology Clinics (ADA) · unknown
- NCT05300334 — Investigation of ADA Enzyme Deficiency · unknown
- NCT03584893 — The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey · unknown
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT04113083 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by TRPHARM
- Last refreshed: 15 June 2022
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04113083.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing