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CTX - Cerebrotendinous XanthomatosisGEN-EYE-IINCT04113083

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

An observational study of CTX - Cerebrotendinous Xanthomatosis, run by TRPHARM at 22 sites in Turkey (Türkiye).

Terminated

Stopped early. The study ended before it was planned to and will not resume.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages Up to 40 years
Conditions the study is for
CTX - Cerebrotendinous Xanthomatosis
What is being tested?
Blood sampling for cholestanol analysis
How many people
22 participants
Where
22 sitesTurkey (Türkiye)
Study dates
19 Oct 2019to 10 Jun 2022
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Up to 40 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

Study population: 200 patients

Who may be able to join

  • 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
Show all 9Show fewer
  • 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)

Who cannot join

  • 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.

Trial locations and contacts

22 sites in 1 country.

22 sites in 1 country

Turkey (Türkiye)22 sites

  • Çukurova University Medical Faculty Deparment of Metabolism

    Adana

  • Çukurova University Medical Faculty Department of Neurology

    Adana

  • Ankara Child and Heamatology Hospital Deparment of Metabolism

    Ankara

  • Ankara City Hospital

    Ankara

  • Ankara Dışkapı Yıldırım Beyazıt Research and Training Hospital Clinic of Neurology

    Ankara

  • Gazi University Medical Faculty Department of Pediatric Metabolism

    Ankara

  • Hacettepe University Medical Faculty Deparment of Metabolism

    Ankara

  • Hacettepe University Medical Faculty Department of Neurology

    Ankara

  • Osmangazi University Medical Faculty Department of Neurology

    Eskişehir

  • Osmangazi University Medical Faculty Department of Pediatric Metabolism

    Eskişehir

  • Bezmi Alem Vakıf University Medical Faculty Department of Neurology

    Istanbul

  • Hamidiye Şişli Etfal Research and Training Hospital Clinic of Neurology

    Istanbul

  • Hamidiye Şişli Etfal Research and Training Hospital Clinic of Pediatric Metabolism

    Istanbul

  • İstanbul University Cerrahpasa Medical Faculty Department of Pediatric Metabolism

    Istanbul

  • İstanbul University Cerrahpaşa Medical Faculty Department of Neurology

    Istanbul

  • İstanbul University İstanbul Medical Faculty Department of Neurology

    Istanbul

  • İstanbul University İstanbul Medical Faculty Department of Pediatric Metabolism

    Istanbul

  • Kanuni Sultan Suleyman Research and Training Hospital Clinic of Pediatric Metabolism

    Istanbul

  • Medeniyet University Göztepe Research and Training Hospital Clinic of Neurology

    Istanbul

  • Mersin City Hospital Department of Metabolism

    Mersin

  • Mersin University Medical Faculty Department of Neurology

    Mersin

  • Cumhuriyet University Medical Faculty Department of Neurology

    Sivas

Other trials in Turkey (Türkiye)

About this study

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

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:

Read more
  • 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.

Being tested
Blood sampling for cholestanol analysis
Medical subject headings
Xanthomatosis, Cerebrotendinous

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Blood sampling for cholestanol analysisOther

    Blood sampling will be performed by Düzen Laboratories group for cholestanol

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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)

    Measured: 3 years

  2. 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

    Measured: 3 years

Secondary outcomes (7)

  1. Total of Mignarri Suspicion Index (SI)

    Mignarri is a suspicion index, composed of weight-ed scores assigned to indicators such as family history and common systemic and neurological features. The indicators were classified as very strong (score 100), strong (50) or moderate (25). The suspicion index will be applied to study population. Early systemic signs such as catamct, diarrhea and neonatal cholestatic jaundice were considered strong indica- tors, together with neurological features such as intellectual impairment, psychiatric disturbances, ataxia, spastic paraparesis and dentate nuclei abnormalities at MRI. Tendon xanthomas were regarded as very strong indicators, as was an affected sibling. A total score 100 warranted serum cholestanol assessment. Elevated cholestanol or a total score 200, with one very strong or four strong indicators, warranted CYP27Al gene analysis. (Reference: Mignarri et al. J Inherit Metab Dis (2014) 37:421-429)

    -and physical examination results for patients with high cholestanol levels

    Measured: 3 Years

  2. Cholestanol Levels

    • Cholestanol levels for patients with high cholestanol levels

    Measured: 3 Years

  3. Patient demographics

    For all screened patients:

    • Demographic data

    Measured: 3 Years

  4. CTX Family History

    For all screened patients:

    • CTX family history

    Measured: 3 Years

  5. Presence of consangunious marriage

    For all screened patients:

    • Presence of consanguineous marriage

    Measured: 3 Years

  6. Frequency of the systemic findings

    For all screened patients:

    • Frequency of the following systemic findings:
    • Tendon xanthomas
    • Chronic diarrhea
    • Prolonged neonatal jaundice
    • Early osteoporosis

    Measured: 3 Years

  7. Frequency of the neurologic findings

    For all screened patients:

    • Frequency of the following neurological symptoms:
    • Cerebellar ataxia
    • Spastic paraparesis
    • Blateral cataract (except senile cataract)
    • Non-enhancing hyperintensity on T2 sections in MR imaging of dentate nuclei
    • Intellectual disability
    • Psychiatric disorders
    • Epilepsy
    • Parkinson's
    • Polyneuropathy

    Measured: 3 Years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted2 Oct 2019
  2. Study start19 Oct 2019
  3. Primary completion16 Mar 2022
  4. Study completion10 Jun 2022

Why it 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.

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Other
Time perspective
Other
Enrolment
22 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04113083
Sponsor's protocol ID
TR-CTX-002
Acronym
GEN-EYE-II
Status last verified
Jun 2022
First submitted
25 Sep 2019
Last updated
15 Jun 2022
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Questions about this trial

What is this clinical trial studying?

An observational study of CTX - Cerebrotendinous Xanthomatosis, run by TRPHARM at 22 sites in Turkey (Türkiye).

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 9 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: stopped early, as of the sponsor's last update on 15 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 22 sites in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study was stopped early (reason given: 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.). Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Proportion of patients with CTX possibility in Neurology Clinics (time frame: 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04113083.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jun 2022.

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