The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey

NCT03584893 | Unknown DMC

• 1 other identifier: TR-CTX-001
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 36

Brief Summary

Epidemiologic observational study. Study will include two phases:

1. 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. 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.

Conditions

Cerebrotendinous Xanthomatosis

Keywords

Juvenile Cataract; CTX; Diarrhea; Neonatal Jaundice; Xanthoma

Outcome Measures

Primary Outcomes (1)

• Rate of juvenile cataract patients

  Rate of juvenile cataract patients whose cholestanol test result is above threshold (3.75 mg/mL) and suspected CTX cases

  "through study completion, an average of 3 years"

Secondary Outcomes (4)

• CTX history in family

  "through study completion, an average of 3 years"

• Presence of consanguineous marriage

  "through study completion, an average of 3 years"

• The frequency of the systemic findings

  "through study completion, an average of 3 years"

• The frequency of the neurological symptoms

  "through study completion, an average of 3 years"

Study Arms (1)

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

Interventions

Blood sampling for Cholestanol Analysis PROCEDURE

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

Epidemiologic observational study cohort

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• TRPHARM: lead
• Klinar CRO: collaborator
• Düzen Laboratories Group: collaborator

Study Sites (36)

Adana Başkent University School of Medicine

Adana, Turkey (Türkiye)

NOT YET RECRUITING

Adana State Hospital

Adana, Turkey (Türkiye)

RECRUITING

Çukurova University Medical Faculty Department of Ophtalmology

Adana, Turkey (Türkiye)

RECRUITING

Ankara Training and Research Hospital

Ankara, Turkey (Türkiye)

RECRUITING

Ankara University Medical Faculty Department of Ophtalmology

Ankara, Turkey (Türkiye)

RECRUITING

Başkent University School of Medicine

Ankara, Turkey (Türkiye)

RECRUITING

Dünya Göz Hospital

Ankara, Turkey (Türkiye)

RECRUITING

Hacettepe University Medical Faculty Department of Ophtalmology

Ankara, Turkey (Türkiye)

RECRUITING

Health Sciences University Ankara State Hospital

Ankara, Turkey (Türkiye)

RECRUITING

SBU Gülhane Training and Research Hospital

Ankara, Turkey (Türkiye)

RECRUITING

Ulucanlar Göz Training Hospital

Ankara, Turkey (Türkiye)

RECRUITING

Akdeniz University Medical Faculty Department of Ophtalmology

Antalya, Turkey (Türkiye)

RECRUITING

Bursa Yüksek İhtisas Training and Research Hospital

Bursa, Turkey (Türkiye)

RECRUITING

Uludağ University Medical Faculty Department of Ophtalmology

Bursa, Turkey (Türkiye)

TERMINATED

Dicle University School of Medicine

Diyarbakır, Turkey (Türkiye)

TERMINATED

Fırat University School of Medicine

Elâzığ, Turkey (Türkiye)

RECRUITING

Osmangazi University Medical Faculty Department of Ophtalmology

Eskişehir, Turkey (Türkiye)

RECRUITING

Gaziantep University Şahinbey Training and Research Hospital

Gaziantep, Turkey (Türkiye)

RECRUITING

Istanbul University Istanbul Medical Faculty Department of Ophtalmology

Istanbul, Turkey (Türkiye)

RECRUITING

İstanbul Haseki Training and Research Hospital

Istanbul, Turkey (Türkiye)

RECRUITING

İstanbul Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital

Istanbul, Turkey (Türkiye)

RECRUITING

Marmara University Medical Faculty Department of Ophtalmology

Istanbul, Turkey (Türkiye)

RECRUITING

Marmara University Pendik Training and Research Hospital

Istanbul, Turkey (Türkiye)

NOT YET RECRUITING

Prof.Dr.N.Reşat Belger Beyoğlu Göz Training and Research Hospital

Istanbul, Turkey (Türkiye)

RECRUITING

Dokuz Eylül University Medical Faculty Department of Ophtalmology

Izmir, Turkey (Türkiye)

RECRUITING

Ege University Medical Faculty Department of Ophtalmology

Izmir, Turkey (Türkiye)

RECRUITING

İzmir Dr. Behcet Uz Child Diseases and Surgery Training and Research Hospital

Izmir, Turkey (Türkiye)

RECRUITING

Kayseri Training and Research Hospital

Kayseri, Turkey (Türkiye)

RECRUITING

Kocaeli University School of medicine

Kocaeli, Turkey (Türkiye)

RECRUITING

İnönü University School of Medicine

Malatya, Turkey (Türkiye)

TERMINATED

Mersin University Medical Faculty Department of Ophtalmology

Mersin, Turkey (Türkiye)

RECRUITING

Sakarya University School of Medicine

Sakarya, Turkey (Türkiye)

RECRUITING

Ondokuz Mayıs University School of Medicine

Samsun, Turkey (Türkiye)

RECRUITING

Harran University Research and Application Hospital

Sanliurfa, Turkey (Türkiye)

RECRUITING

Karadeniz Technical University School of Medicine

Trabzon, Turkey (Türkiye)

RECRUITING

Van 100. Yıl University Dursun Odabaş Medical Center

Van, Turkey (Türkiye)

RECRUITING

Related Publications (11)

• 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

  BACKGROUND

• Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4.

  PMID: 25424010 BACKGROUND

• 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)

  BACKGROUND

• Fraidakis MJ. Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry. 2013 Sep 3;3(9):e302. doi: 10.1038/tp.2013.76.

  PMID: 24002088 BACKGROUND

• Cruysberg JR, Wevers RA, Tolboom JJ. Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. Am J Ophthalmol. 1991 Nov 15;112(5):606-7. doi: 10.1016/s0002-9394(14)76874-6. No abstract available.

  PMID: 1951610 BACKGROUND

• Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2014 May;37(3):421-9. doi: 10.1007/s10545-013-9674-3. Epub 2014 Jan 18.

  PMID: 24442603 BACKGROUND

• Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreels FJ, van Engelen BG, van den Heuvel LP. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908.

  PMID: 10775536 BACKGROUND

• Salen G, Steiner RD. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis. 2017 Nov;40(6):771-781. doi: 10.1007/s10545-017-0093-8. Epub 2017 Oct 4.

  PMID: 28980151 BACKGROUND

• Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991 Apr 25;266(12):7779-83.

  PMID: 2019602 BACKGROUND

• Yahalom G, Tsabari R, Molshatzki N, Ephraty L, Cohen H, Hassin-Baer S. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin Neuropharmacol. 2013 May-Jun;36(3):78-83. doi: 10.1097/WNF.0b013e318288076a.

  PMID: 23673909 BACKGROUND

• Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. Ophthalmology. 2013 May;120(5):956-60. doi: 10.1016/j.ophtha.2012.10.032. Epub 2013 Jan 31.

  PMID: 23375591 BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood samples will be sent to Duzen Laboratories in Ankara and analyzed for cholestanol.

MeSH Terms

Conditions

Xanthomatosis, Cerebrotendinous; Diarrhea; Jaundice, Neonatal; Xanthomatosis

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Signs and Symptoms, Digestive; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Hyperbilirubinemia, Neonatal; Infant, Newborn, Diseases; Hyperbilirubinemia; Pathologic Processes

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Serdar Altinel

CONTACT

00902123863149; serdar.altinel@trpharm.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 19, 2018
• First Posted: July 12, 2018
• Study Start: June 1, 2018
• Primary Completion: December 31, 2022
• Study Completion: March 1, 2023
• Last Updated: March 29, 2021

Record last verified: 2021-03

Locations

TU (36)