TerminatedNot Applicable

An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease

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.

Turkey (Türkiye)22 participantsStarted 2019-10-19

Plain-language 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.

Who can participate

Age range

40 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Proportion of patients with CTX possibility in Neurology Clinics

Timeframe: 3 years

Proportion of patients with CTX possibility in Pediatric Metabolism Clinics

Timeframe: 3 years

Trial details

NCT IDNCT04113083

SponsorTRPHARM

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2022-03-16

View on ClinicalTrials.gov More CTX - Cerebrotendinous Xanthomatosis trials