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An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease (GEN-EYE-II)

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ClinicalTrials.gov Identifier: NCT04113083
Recruitment Status : Suspended (Due to COVID 19 Pandemic)
First Posted : October 2, 2019
Last Update Posted : October 22, 2020
Sponsor:
Collaborators:
Klinar CRO
Düzen Laboratories Group
Information provided by (Responsible Party):
TRPHARM

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.


Condition or disease Intervention/treatment
CTX - Cerebrotendinous Xanthomatosis Other: Blood sampling for cholestanol analysis

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Study Type : Observational
Actual Enrollment : 22 participants
Observational Model: Other
Time Perspective: Other
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
Actual Study Start Date : October 19, 2019
Actual Primary Completion Date : October 19, 2020
Estimated Study Completion Date : October 2022



Intervention Details:
  • Other: Blood sampling for cholestanol analysis
    Blood sampling will be performed by Düzen Laboratories group for cholestanol


Primary Outcome Measures :
  1. Proportion of patients with CTX possibility in Neurology Clinics [ Time Frame: 3 years ]

    - 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)

  2. Proportion of patients with CTX possibility in Pediatric Metabolism Clinics [ Time Frame: 3 years ]
    - Proportion of cases above the cholestanol test threshold (3.75 mg / mL) in pediatric metabolism centers


Secondary Outcome Measures :
  1. Total of Mignarri Suspicion Index (SI) [ Time Frame: 3 Years ]

    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


  2. Cholestanol Levels [ Time Frame: 3 Years ]
    - Cholestanol levels for patients with high cholestanol levels

  3. Patient demographics [ Time Frame: 3 Years ]

    For all screened patients:

    • Demographic data


  4. CTX Family History [ Time Frame: 3 Years ]

    For all screened patients:

    • CTX family history


  5. Presence of consangunious marriage [ Time Frame: 3 Years ]

    For all screened patients:

    • Presence of consanguineous marriage


  6. Frequency of the systemic findings [ Time Frame: 3 Years ]

    For all screened patients:

    • Frequency of the following systemic findings:

    • Tendon xanthomas
    • Chronic diarrhea
    • Prolonged neonatal jaundice
    • Early osteoporosis

  7. Frequency of the neurologic findings [ Time Frame: 3 Years ]

    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


Biospecimen Retention:   Samples Without DNA
Blood sampling for cholestanol analysis


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
200 patients
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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04113083


Locations
Show Show 21 study locations
Sponsors and Collaborators
TRPHARM
Klinar CRO
Düzen Laboratories Group
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Responsible Party: TRPHARM
ClinicalTrials.gov Identifier: NCT04113083    
Other Study ID Numbers: TR-CTX-002
First Posted: October 2, 2019    Key Record Dates
Last Update Posted: October 22, 2020
Last Verified: October 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Xanthomatosis, Cerebrotendinous
Xanthomatosis
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn