Trial Review

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Trial registered on ANZCTR


Registration number
ACTRN12615001113549
Ethics application status
Approved
Date submitted
26/07/2015
Date registered
21/10/2015
Date last updated
21/10/2015
Type of registration
Retrospectively registered

Titles & IDs
Public title
Mutation Screening and Clinical Findings in a Family with Oguchi Disease in Turkey
Scientific title
Examination of specific gene mutations and clinical presentation of Oguchi night blindness in four children and their parents in a single Turkish family.
Secondary ID [1] 287149 0
None
Universal Trial Number (UTN)
U1111-1172-5812
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Oguchi night blindness 295708 0
Condition category
Condition code
Eye 295988 295988 0 0
Diseases / disorders of the eye

Intervention/exposure
Study type
Observational
Patient registry
False
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Oguchi’s disease is a rare form of CSNB with autosomal recessive inheritance, characterized by a typical clinical feature called the Mizuo-Nakamura phenomenon in which the golden yellow discoloration of the fundus disappears in the dark adapted condition and reappears shortly after exposure to light.
We will investigate the presence of TRPM1 (Transient receptor potential cation channel, subfamily m, member 1), GRM6 (glutamate receptor, metabotropic, 6), SAG (S-antigen- arrestin), and GRK1 (G-protein-dependent receptor kinase 1) mutations in the family members with Oguchi disease. one-off testing session lasting approximately 2 hours.
Intervention code [1] 292416 0
Early detection / Screening
Comparator / control treatment
No treatment
Control group
Uncontrolled

Outcomes
Primary outcome [1] 295659 0
We will investigate the novel mutation of TRPM1, GRM6, SAGi and GRK1 in the affected members of a consanguineous Turkish family. This is a composite primary outcome.
Genomic DNA will obtain from peripheral leukocytes (10 mL of whole blood) of the siblings and parents by ammonium acetate extraction. DNA samples will quantified with a NanoDrop spectrophotometer prior to the PCR
Timepoint [1] 295659 0
31/08/2015. All six family members will test for the mutation testing on this date.
Secondary outcome [1] 316135 0
A complete ophthalmological examination including visual acuity, applanation tonometry, biomicroscobic examination findings, dilated examination of the posterior segment, fluorescein angiography, spectral domain optical coherence tomography, fundus autofluorescence, dark adaptation test, automated visual field examination, and Electroretinography will be evaluated. This is a composite secondary outcome.
Timepoint [1] 316135 0
31/08/2015, complete ophthalmological examination will be evaluated
All six family members will test for the mutation testing on August 31, 2015.

Eligibility
Key inclusion criteria
The 12-year-old boy (Case 1), 14-year-old girl (Case 2), 16-year-old girl (Case 3), 19-year-old girl (Case 4), 41-year-old woman (Mother) (Case 5), and a 44-year-old man (Father) (Case 6) will be examined.
The participants are all members of the same family.
A 41-year-old woman (Mother) and a 44-year-old man (Father) had a consanguineous marriage with a 4th degree relative (paternal cousin).
Cases 1-4 noticed night blindness initially 3-10 years previously.
There were no history of problems with night vision in both father and mother.
Minimum age
12 Years
Maximum age
44 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
Anyone outside of the selected family is excluded from the study.

Study design
Purpose
Screening
Duration
Cross-sectional
Selection
Convenience sample
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Active, not recruiting
Date of first participant enrolment
Anticipated
15/07/2015
Actual
1/07/2015
Date of last participant enrolment
Anticipated
20/07/2015
Actual
17/07/2015
Date of last data collection
Anticipated
Actual
Sample size
Target
6
Accrual to date
Final
6
Recruitment outside Australia
Country [1] 7052 0
Turkey
State/province [1] 7052 0
Ankara

Funding & Sponsors
Funding source category [1] 291718 0
Hospital
Name [1] 291718 0
Ankara Ulucanlar Eye Education and Research Hospital
Country [1] 291718 0
Turkey
Primary sponsor type
Hospital
Name
Ankara Ulucanlar Eye Education and Research Hospital
Address
Ulucanlar Cad. No: 59 06230 ALTINDAG/ANKARA/TURKEY
Country
Turkey
Secondary sponsor category [1] 290390 0
None
Name [1] 290390 0
Address [1] 290390 0
Country [1] 290390 0

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 293240 0
Diskapi Training and Research Hospital
Ethics committee address [1] 293240 0
Irfan Bastug Cad. 06110 Diskapi
Ankara
Ethics committee country [1] 293240 0
Turkey
Date submitted for ethics approval [1] 293240 0
01/04/2015
Approval date [1] 293240 0
21/04/2015
Ethics approval number [1] 293240 0
16/13

Summary
Brief summary
Oguchi’s disease is a rare form of congenital stationary night blindness with autosomal recessive inheritance. We want to investigate the presence of mutations in family members with newly diagnosed as Oguchi disease. Also complete ophthalmological examination will be evaluated.
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 59022 0
Prof Mehmet Citirik
Address 59022 0
Ulucanlar Cad. 06230 No: 59 Altindag /Ankara
Country 59022 0
Turkey
Phone 59022 0
+903123126261
Fax 59022 0
+903123124827
Email 59022 0
[email protected]
Contact person for public queries
Name 59023 0
Prof Mehmet Citirik
Address 59023 0
Ulucanlar Cad. 06230 No: 59 Altindag/Ankara
Country 59023 0
Turkey
Phone 59023 0
+903123126261
Fax 59023 0
+903123124827
Email 59023 0
[email protected]
Contact person for scientific queries
Name 59024 0
Prof Mehmet Citirik
Address 59024 0
Ulucanlar Cad. 06230 No: 59 Altindag/Ankara
Country 59024 0
Turkey
Phone 59024 0
+903123126261
Fax 59024 0
+903123124827
Email 59024 0
[email protected]

No information has been provided regarding IPD availability


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

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