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The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey (GEN-EYE-I)

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ClinicalTrials.gov Identifier: NCT03584893
Recruitment Status : Recruiting
First Posted : July 12, 2018
Last Update Posted : April 10, 2019
Sponsor:
Collaborators:
Klinar CRO
Düzen Laboratories Group
Information provided by (Responsible Party):
TRPHARM

Brief Summary:

Epidemiologic observational study. Study will include two phases:

  1. Retrospective cross-sectional phase: At this stage of the study, retrospective screenings are carried out at study sites and all juvenile cataract cases are planned to be determined.
  2. Prospective phase: At this stage of the study, identified juvenile cataract cases as a result of retrospective screenings will be called to be invited to the sites and blood samples will be obtained for the cholestanol tests for the cases that have given Informed Consent.

This observational study is designed in two phases; retrospective and prospective. Retrospective part includes screening the patient database and / or patient files at ophthalmology clinics participating in the study and identifying patients diagnosed with idiopathic juvenile cataracts. The data of patients with idiopathic juvenile cataracts will be reviewed and the data of the patients meeting the inclusion/exclusion criteria will be recorded. Once this phase is completed, the prospective phase of the study will start and the patients meeting the criteria will be invited to the site to participate in the study. Current data will be collected from the patients who agree to participate in the study and the clinical status of the patients will be evaluated according to the Mignarri index. In addition, blood will be obtained from all patients to diagnose CTX disease. Blood samples will be sent to Duzen Laboratories in Ankara and analyzed for cholestanol.


Condition or disease Intervention/treatment
Cerebrotendinous Xanthomatosis Procedure: Blood sampling for Cholestanol Analysis

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Study Type : Observational
Estimated Enrollment : 450 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey
Actual Study Start Date : June 1, 2018
Estimated Primary Completion Date : February 1, 2020
Estimated Study Completion Date : June 1, 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Cataract

Group/Cohort Intervention/treatment
Epidemiologic observational study cohort
All patients over 1 year old diagnosed as idiopathic bilateral juvenile cataracts will be included in the study at the study sites.
Procedure: Blood sampling for Cholestanol Analysis
Cholestanol analysis will be performed to see the Rate of juvenile cataract patients whose cholestanol test result is above threshold (3.75 mg/mL) and suspected CTX cases




Primary Outcome Measures :
  1. Rate of juvenile cataract patients [ Time Frame: Up to 9 months ]
    Rate of juvenile cataract patients whose cholestanol test result is above threshold (3.75 mg/mL) and suspected CTX cases


Secondary Outcome Measures :
  1. CTX history in family [ Time Frame: Up to 9 months ]
    The history of the disease will be assessed from the patient records and by interview

  2. Presence of consanguineous marriage [ Time Frame: Up to 9 months ]
    Presence of consanguineous marriage

  3. The frequency of the systemic findings [ Time Frame: Up to 9 months ]

    The frequency of the following systemic findings:

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

  4. The frequency of the neurological symptoms [ Time Frame: Up to 9 months ]

    The frequency of the following neurological symptoms:

    • Cerebellar ataxia
    • Spastic paraparesis
    • Disruption of dentate nucleus signal detected by MRI
    • Intellectual disability
    • Psychiatric disorders
    • Epilepsy
    • Parkinson
    • Polyneuropathy


Biospecimen Retention:   Samples Without DNA
Blood samples will be sent to Duzen Laboratories in Ankara and analyzed for cholestanol.


Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All patients over 1 year old diagnosed as idiopathic bilateral juvenile cataracts will be included in the study at the study sites.
Criteria

Inclusion Criteria:

  • Providing the written informed consent form
  • The patient should be diagnosed with idiopathic bilateral juvenile cataract
  • Idiopathic bilateral juvenile cataract should be diagnosed while the patient must be take a day from one year (age)
  • Syria ciziten who take their citizenship of Turkey could be enrolled to the study after signing of Informed Consent Form that translated to mother tongue by sworn translation office approved by ethic committee.

Exclusion Criteria:

  • If the patient has been diagnosed with CTX before his/her enrollment in the study,
  • If the patient has been diagnosed with cataract due to any known reasons other than CTX including cataracts related to trauma,
  • If the patient has been diagnosed with cataract due to cataractogenic treatments,
  • If the patient has participated in an interventional clinical study within the last 30 days,
  • If the patient and/or his/her legal representative does not provide consent to participate in the study,
  • If the patient will not be able to fulfill study requirements according to the investigator's opinion,
  • If the patient had used cholic acid or chenodeoxycholic acid on or before the date of participation in the study
  • Pregnancy and/or lactation
  • Syria citizen that have not Turkey citizenship will not enroll to 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): NCT03584893


Contacts
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Contact: Serdar Altinel 00902123863149 serdar.altinel@trpharm.com

Locations
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Turkey
Adana State Hospital Not yet recruiting
Adana, Turkey
Çukurova University Medical Faculty Department of Ophtalmology Recruiting
Adana, Turkey
Ankara TRaining and Research Hospital Not yet recruiting
Ankara, Turkey
Ankara University Medical Faculty Department of Ophtalmology Recruiting
Ankara, Turkey
Başkent University School of Medicine Not yet recruiting
Ankara, Turkey
Dünya Göz Hospital Recruiting
Ankara, Turkey
Hacettepe University Medical Faculty Department of Ophtalmology Recruiting
Ankara, Turkey
Health Sciences University Ankara Numune Training and Research Hospital Not yet recruiting
Ankara, Turkey
SBU Gülhane Training and Research Hospital Recruiting
Ankara, Turkey
Ulucanlar Göz Training Hospital Recruiting
Ankara, Turkey
Akdeniz University Medical Faculty Department of Ophtalmology Recruiting
Antalya, Turkey
Uludağ University Medical Faculty Department of Ophtalmology Recruiting
Bursa, Turkey
Dicle University School of Medicine Recruiting
Diyarbakır, Turkey
Fırat University School of Medicine Not yet recruiting
Elazığ, Turkey
Osmangazi University Medical Faculty Department of Ophtalmology Recruiting
Eskişehir, Turkey
Gaziantep University Şahinbey Training and Research Hospital Recruiting
Gaziantep, Turkey
İstanbul Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital Not yet recruiting
Istanbul, Turkey
Istanbul University Istanbul Medical Faculty Department of Ophtalmology Recruiting
Istanbul, Turkey
Marmara University Medical Faculty Department of Ophtalmology Recruiting
Istanbul, Turkey
Prof.Dr.N.Reşat Belger Beyoğlu Göz Training and Research Hospital Recruiting
Istanbul, Turkey
Dokuz Eylül University Medical Faculty Department of Ophtalmology Recruiting
İzmir, Turkey
Ege University Medical Faculty Department of Ophtalmology Recruiting
İzmir, Turkey
Kayseri Training and Research Hospital Recruiting
Kayseri, Turkey
İnönü University School of Medicine Recruiting
Malatya, Turkey
Mersin University Medical Faculty Department of Ophtalmology Recruiting
Mersin, Turkey
Ondokuz Mayıs University School of Medicine Recruiting
Samsun, Turkey
Karadeniz Technical University School of Medicine Recruiting
Trabzon, Turkey
Harran University Research and Application Hospital Not yet recruiting
Şanlıurfa, Turkey
Sponsors and Collaborators
TRPHARM
Klinar CRO
Düzen Laboratories Group

Publications:
Clayton PT (2016) Disorders of Bile Acid Synthesis. In: Saudubray JM, Baumgartner MR, Walter J (eds) Inborn metabolic diseases: diagnosis and treatment, 6th ed. Springer-Verlag, Heidelberg, pp 465- 477
Federico A, Dotti MT, Gallus GN (2003) Cerebrotendinous Xanthomatosis. In: Pagon RA, Adam MP, Ardinger HH, et al. (eds) GeneReviews Seattle (WA): University of Washington, Seattle, 1993- 2017 (updated 2016 Apr 14)

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Responsible Party: TRPHARM
ClinicalTrials.gov Identifier: NCT03584893     History of Changes
Other Study ID Numbers: TR-CTX-001
First Posted: July 12, 2018    Key Record Dates
Last Update Posted: April 10, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by TRPHARM:
Juvenile Cataract
CTX
Diarrhea
Neonatal Jaundice
Xanthoma

Additional relevant MeSH terms:
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Cataract
Xanthomatosis, Cerebrotendinous
Xanthomatosis
Lens Diseases
Eye Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Metabolic Diseases