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| Name | Class |
|---|---|
| Klinar CRO | OTHER |
| Düzen Laboratories Group | UNKNOWN |
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Epidemiologic observational study. Study will include two phases:
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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" |
| Measure | Description | Time Frame |
|---|---|---|
| CTX history in family | The history of the disease will be assessed from the patient records and by interview | "through study completion, an average of 3 years" |
| Presence of consanguineous marriage |
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Inclusion Criteria:
Exclusion Criteria:
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All patients over 1 year old diagnosed as idiopathic bilateral juvenile cataracts will be included in the study at the study sites.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Serdar Altinel | Contact | 00902123863149 | serdar.altinel@trpharm.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Adana Başkent University School of Medicine | Not yet recruiting | Adana | Turkey (Türkiye) |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| Background | 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 | ||
| 25424010 | 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. | |
| 20301583 |
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Blood samples will be sent to Duzen Laboratories in Ankara and analyzed for cholestanol.
Presence of consanguineous marriage
| "through study completion, an average of 3 years" |
| The frequency of the systemic findings | The frequency of the following systemic findings:
| "through study completion, an average of 3 years" |
| The frequency of the neurological symptoms | The frequency of the following neurological symptoms:
| "through study completion, an average of 3 years" |
| Adana State Hospital | Recruiting | Adana | Turkey (Türkiye) |
| Çukurova University Medical Faculty Department of Ophtalmology | Recruiting | Adana | Turkey (Türkiye) |
| Ankara Training and Research Hospital | Recruiting | Ankara | Turkey (Türkiye) |
| Ankara University Medical Faculty Department of Ophtalmology | Recruiting | Ankara | Turkey (Türkiye) |
| Başkent University School of Medicine | Recruiting | Ankara | Turkey (Türkiye) |
| Dünya Göz Hospital | Recruiting | Ankara | Turkey (Türkiye) |
| Hacettepe University Medical Faculty Department of Ophtalmology | Recruiting | Ankara | Turkey (Türkiye) |
| Health Sciences University Ankara State Hospital | Recruiting | Ankara | Turkey (Türkiye) |
| SBU Gülhane Training and Research Hospital | Recruiting | Ankara | Turkey (Türkiye) |
| Ulucanlar Göz Training Hospital | Recruiting | Ankara | Turkey (Türkiye) |
| Akdeniz University Medical Faculty Department of Ophtalmology | Recruiting | Antalya | Turkey (Türkiye) |
| Bursa Yüksek İhtisas Training and Research Hospital | Recruiting | Bursa | Turkey (Türkiye) |
| Uludağ University Medical Faculty Department of Ophtalmology | Terminated | Bursa | Turkey (Türkiye) |
| Dicle University School of Medicine | Terminated | Diyarbakır | Turkey (Türkiye) |
| Fırat University School of Medicine | Recruiting | Elâzığ | Turkey (Türkiye) |
| Osmangazi University Medical Faculty Department of Ophtalmology | Recruiting | Eskişehir | Turkey (Türkiye) |
| Gaziantep University Şahinbey Training and Research Hospital | Recruiting | Gaziantep | Turkey (Türkiye) |
| Istanbul University Istanbul Medical Faculty Department of Ophtalmology | Recruiting | Istanbul | Turkey (Türkiye) |
| İstanbul Haseki Training and Research Hospital | Recruiting | Istanbul | Turkey (Türkiye) |
|
| İstanbul Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital | Recruiting | Istanbul | Turkey (Türkiye) |
| Marmara University Medical Faculty Department of Ophtalmology | Recruiting | Istanbul | Turkey (Türkiye) |
| Marmara University Pendik Training and Research Hospital | Not yet recruiting | Istanbul | Turkey (Türkiye) |
|
| Prof.Dr.N.Reşat Belger Beyoğlu Göz Training and Research Hospital | Recruiting | Istanbul | Turkey (Türkiye) |
| Dokuz Eylül University Medical Faculty Department of Ophtalmology | Recruiting | Izmir | Turkey (Türkiye) |
| Ege University Medical Faculty Department of Ophtalmology | Recruiting | Izmir | Turkey (Türkiye) |
| İzmir Dr. Behcet Uz Child Diseases and Surgery Training and Research Hospital | Recruiting | Izmir | Turkey (Türkiye) |
| Kayseri Training and Research Hospital | Recruiting | Kayseri | Turkey (Türkiye) |
| Kocaeli University School of medicine | Recruiting | Kocaeli | Turkey (Türkiye) |
|
| İnönü University School of Medicine | Terminated | Malatya | Turkey (Türkiye) |
| Mersin University Medical Faculty Department of Ophtalmology | Recruiting | Mersin | Turkey (Türkiye) |
| Sakarya University School of Medicine | Recruiting | Sakarya | Turkey (Türkiye) |
|
| Ondokuz Mayıs University School of Medicine | Recruiting | Samsun | Turkey (Türkiye) |
| Harran University Research and Application Hospital | Recruiting | Sanliurfa | Turkey (Türkiye) |
| Karadeniz Technical University School of Medicine | Recruiting | Trabzon | Turkey (Türkiye) |
| Van 100. Yıl University Dursun Odabaş Medical Center | Recruiting | Van | Turkey (Türkiye) |
| Background |
| Federico A, Gallus GN. Cerebrotendinous Xanthomatosis. 2003 Jul 16 [updated 2024 Nov 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1409/ |
| 24002088 | Background | Fraidakis MJ. Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry. 2013 Sep 3;3(9):e302. doi: 10.1038/tp.2013.76. |
| 1951610 | 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. |
| 24442603 | 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. |
| 10775536 | 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. |
| 28980151 | 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. |
| 2019602 | 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. |
| 23673909 | 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. |
| 23375591 | 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. |
| ID | Term |
|---|---|
| D019294 | Xanthomatosis, Cerebrotendinous |
| D003967 | Diarrhea |
| D007567 | Jaundice, Neonatal |
| D014973 | Xanthomatosis |
| ID | Term |
|---|---|
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D012817 | Signs and Symptoms, Digestive |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D051556 | Hyperbilirubinemia, Neonatal |
| D007232 | Infant, Newborn, Diseases |
| D006932 | Hyperbilirubinemia |
| D010335 | Pathologic Processes |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
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