Study Stopped
Due To Covid-19 there were delays in the arrival of patients to the sites. Due to the rare disease in the study population, no patients who met the inclusion/exclusion criteria were found, and the study was terminated early due to these reasons.
An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease
GEN-EYE-II
An Epidemiological Observational Study for Retrospective and Prospective Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease in Neurology and Pediatric Metabolism Clinics in Turkey
1 other identifier
observational
22
1 country
22
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Oct 2019
Typical duration for all trials
22 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
September 25, 2019
CompletedFirst Posted
Study publicly available on registry
October 2, 2019
CompletedStudy Start
First participant enrolled
October 19, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 16, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
June 10, 2022
CompletedJune 15, 2022
June 1, 2022
2.4 years
September 25, 2019
June 10, 2022
Conditions
Outcome Measures
Primary Outcomes (2)
Proportion of patients with CTX possibility in Neurology Clinics
\- Proportion of patients aged 40 years or younger with at least two of the following (2) in patients with a cholestanol test threshold (3.75 mg / mL) in neurology clinics: * Ataxia and / or spasticity * Bilateral cataract (except senile cataract) * Intellectual limitation * Nonintensitive hyperintensity in T2 sections on MRI of the dentate nucleus * Forming an autosomal recessive transition pattern. (Ex: Relative Marriage)
3 years
Proportion of patients with CTX possibility in Pediatric Metabolism Clinics
\- Proportion of cases above the cholestanol test threshold (3.75 mg / mL) in pediatric metabolism centers
3 years
Secondary Outcomes (7)
Total of Mignarri Suspicion Index (SI)
3 Years
Cholestanol Levels
3 Years
Patient demographics
3 Years
CTX Family History
3 Years
Presence of consangunious marriage
3 Years
- +2 more secondary outcomes
Interventions
Blood sampling will be performed by Düzen Laboratories group for cholestanol
Eligibility Criteria
200 patients
You may qualify if:
- I-1. Giving written informed consent
- I-2. Patients in neurology clinics should have been identified with at least two of the following:
- Ataxia and / or spasticity
- Bilateral cataract (except senile cataract)
- Intellectual limitation
- Nonintensitive hyperintensity in T2 sections on MRI of the dentate nucleus
- Forming an autosomal recessive transition pattern. (Ex: Relative Marriage)
- I-3. In the pediatric metabolism centers, cases suspected of CTX and planned to apply the Mignarri Index according to the investigator's opinion.
- I-4. On the day the patient signed the Informed Consent Form, the patient did not get older than 41 years of age (subjects aged 40 and under will be included in the study)
You may not qualify if:
- E-1. The patient's ataxia and / or spasticity, cataract, intellectual limitation, and non-contrasted hyperintensity of T2 sections in MR imaging of dentate nuclei with typical MRI findings are due to a known cause other than CTX or other underlying disease.
- E-2. The patient has participated in an interventional clinical study in the last 30 days,
- E-3. The patient and / or his / her legal representative does not give consent to participate in the study,
- E-4. In the opinion of the investigator, the patient is not able to fulfill the working requirements appropriately,
- E-5. Pregnancy and / or lactation
- E-6. If the patient was 41 years old when included in the study.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- TRPHARMlead
- Klinar CROcollaborator
- Düzen Laboratories Groupcollaborator
Study Sites (22)
Çukurova University Medical Faculty Deparment of Metabolism
Adana, Turkey (Türkiye)
Çukurova University Medical Faculty Department of Neurology
Adana, Turkey (Türkiye)
Ankara Child and Heamatology Hospital Deparment of Metabolism
Ankara, Turkey (Türkiye)
Ankara City Hospital
Ankara, Turkey (Türkiye)
Ankara Dışkapı Yıldırım Beyazıt Research and Training Hospital Clinic of Neurology
Ankara, Turkey (Türkiye)
Gazi University Medical Faculty Department of Pediatric Metabolism
Ankara, Turkey (Türkiye)
Hacettepe University Medical Faculty Deparment of Metabolism
Ankara, Turkey (Türkiye)
Hacettepe University Medical Faculty Department of Neurology
Ankara, Turkey (Türkiye)
Osmangazi University Medical Faculty Department of Neurology
Eskişehir, Turkey (Türkiye)
Osmangazi University Medical Faculty Department of Pediatric Metabolism
Eskişehir, Turkey (Türkiye)
Bezmi Alem Vakıf University Medical Faculty Department of Neurology
Istanbul, Turkey (Türkiye)
Hamidiye Şişli Etfal Research and Training Hospital Clinic of Neurology
Istanbul, Turkey (Türkiye)
Hamidiye Şişli Etfal Research and Training Hospital Clinic of Pediatric Metabolism
Istanbul, Turkey (Türkiye)
İstanbul University Cerrahpasa Medical Faculty Department of Pediatric Metabolism
Istanbul, Turkey (Türkiye)
İstanbul University Cerrahpaşa Medical Faculty Department of Neurology
Istanbul, Turkey (Türkiye)
İstanbul University İstanbul Medical Faculty Department of Neurology
Istanbul, Turkey (Türkiye)
İstanbul University İstanbul Medical Faculty Department of Pediatric Metabolism
Istanbul, Turkey (Türkiye)
Kanuni Sultan Suleyman Research and Training Hospital Clinic of Pediatric Metabolism
Istanbul, Turkey (Türkiye)
Medeniyet University Göztepe Research and Training Hospital Clinic of Neurology
Istanbul, Turkey (Türkiye)
Mersin City Hospital Department of Metabolism
Mersin, Turkey (Türkiye)
Mersin University Medical Faculty Department of Neurology
Mersin, Turkey (Türkiye)
Cumhuriyet University Medical Faculty Department of Neurology
Sivas, Turkey (Türkiye)
Biospecimen
Blood sampling for cholestanol analysis
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- OTHER
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 25, 2019
First Posted
October 2, 2019
Study Start
October 19, 2019
Primary Completion
March 16, 2022
Study Completion
June 10, 2022
Last Updated
June 15, 2022
Record last verified: 2022-06
Data Sharing
- IPD Sharing
- Will not share