Clinical trial NCT04113083: An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease
Official title: 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
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: CTX - Cerebrotendinous Xanthomatosis
Lead sponsor: TRPHARM
Sponsor class: INDUSTRY
Collaborators: name: Klinar CRO
name: Düzen Laboratories Group
First posted: 2019-10-02
Enrollment: 22
Sex: ALL
Maximum age (years): 40
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: PROBABILITY_SAMPLE
Study population: 200 patients

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.


Eligibility criteria: Inclusion Criteria:

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)

Exclusion Criteria:

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.

Primary outcomes:
measure: Proportion of patients with CTX possibility in Neurology Clinics
timeFrame: 3 years
measure: Proportion of patients with CTX possibility in Pediatric Metabolism Clinics
timeFrame: 3 years
Secondary outcomes:
measure: Total of Mignarri Suspicion Index (SI)
timeFrame: 3 Years
measure: Cholestanol Levels
timeFrame: 3 Years
measure: Patient demographics
timeFrame: 3 Years
measure: CTX Family History
timeFrame: 3 Years
measure: Presence of consangunious marriage
timeFrame: 3 Years
measure: Frequency of the systemic findings
timeFrame: 3 Years
measure: Frequency of the neurologic findings
timeFrame: 3 Years
Other outcomes:
Locations:
city: Adana
country: Turkey
facility: Çukurova University Medical Faculty Deparment of Metabolism
city: Adana
country: Turkey
facility: Çukurova University Medical Faculty Department of Neurology
city: Ankara
country: Turkey
facility: Ankara Child and Heamatology Hospital Deparment of Metabolism
city: Ankara
country: Turkey
facility: Ankara City Hospital
city: Ankara
country: Turkey
facility: Ankara Dışkapı Yıldırım Beyazıt Research and Training Hospital Clinic of Neurology
city: Ankara
country: Turkey
facility: Gazi University Medical Faculty Department of Pediatric Metabolism
city: Ankara
country: Turkey
facility: Hacettepe University Medical Faculty Deparment of Metabolism
city: Ankara
country: Turkey
facility: Hacettepe University Medical Faculty Department of Neurology
city: Eskişehir
country: Turkey
facility: Osmangazi University Medical Faculty Department of Neurology
city: Eskişehir
country: Turkey
facility: Osmangazi University Medical Faculty Department of Pediatric Metabolism
city: Istanbul
country: Turkey
facility: Bezmi Alem Vakıf University Medical Faculty Department of Neurology
city: Istanbul
country: Turkey
facility: Hamidiye Şişli Etfal Research and Training Hospital Clinic of Neurology
city: Istanbul
country: Turkey
facility: Hamidiye Şişli Etfal Research and Training Hospital Clinic of Pediatric Metabolism
city: Istanbul
country: Turkey
facility: İstanbul University Cerrahpasa Medical Faculty Department of Pediatric Metabolism
city: Istanbul
country: Turkey
facility: İstanbul University Cerrahpaşa Medical Faculty Department of Neurology
city: Istanbul
country: Turkey
facility: İstanbul University İstanbul Medical Faculty Department of Neurology
city: Istanbul
country: Turkey
facility: İstanbul University İstanbul Medical Faculty Department of Pediatric Metabolism
city: Istanbul
country: Turkey
facility: Kanuni Sultan Suleyman Research and Training Hospital Clinic of Pediatric Metabolism
city: Istanbul
country: Turkey
facility: Medeniyet University Göztepe Research and Training Hospital Clinic of Neurology
city: Mersin
country: Turkey
facility: Mersin City Hospital Department of Metabolism
city: Mersin
country: Turkey
facility: Mersin University Medical Faculty Department of Neurology
city: Sivas
country: Turkey
facility: Cumhuriyet University Medical Faculty Department of Neurology
Study officials:
References: