Trials Sponsors Conditions Drugs Pricing

Conditions

Cerebrotendinous Xanthomatosis

Keywords

Juvenile CataractCTXDiarrheaNeonatal JaundiceXanthoma

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 AnalysisProcedure

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

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Age1 Year+

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodProbability 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

Sponsors & Collaborators

Düzen Laboratories Group
Type not reportedcollaborator
TRPHARM
Industrylead
Klinar CRO

Study Sites (36)

Adana Başkent University School of Medicine

Adana, Turkey (Türkiye)

NOT_YET_RECRUITING

Aysel PelitCONTACT

Adana State Hospital

Adana, Turkey (Türkiye)

RECRUITING

Çukurova University Medical Faculty Department of Ophtalmology

Adana, 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: 25424010BACKGROUND
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/
PMID: 20301583

Biospecimen

Retention: SAMPLES WITHOUT DNA

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

MeSH Terms

Conditions

Xanthomatosis, CerebrotendinousDiarrheaJaundice, NeonatalXanthomatosis

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic DiseasesSigns and Symptoms, Digestive

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

Actual (reported)

Primary Completion

December 31, 2022

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (4)

Study Arms (1)

Epidemiologic observational study cohort

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (36)

Related Publications (11)

Biospecimen

MeSH Terms

Conditions

Interventions

Condition Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Intervention Hierarchy (Ancestors)

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (4)

Study Arms (1)

Epidemiologic observational study cohort

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (36)

Related Publications (11)

Biospecimen

MeSH Terms

Conditions

Interventions

Condition Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Intervention Hierarchy (Ancestors)

Source record

Locations