Prospective clinical evaluation of inherited retinal diseases

Recruiting

Conditions: Inherited retinal disease
Stargardt disease
10047060

Registration Number: NL-OMON48655

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 40

Inclusion Criteria

Study Participant Inclusion Criteria
Participants must meet the following:
1. Clinical diagnosis of STGD and at least two pathogenic or likely pathogenic mutations in trans in the ABCA4 gene of which at least one therapy-eligible mutation
2. Age >= 16 years
3. Willing and able to complete the informed consent
4. Ability to return for all study visits over 36 months;Ocular Inclusion Criteria
At least one eye of participants must meet the following:
1. Baseline visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better)
2. Stable fixation and ability to perform perimetry reliably
3. Clear ocular media and adequate pupil dilation to permit good quality imaging

Exclusion Criteria

Study Participant Exclusion Criteria
1. Mutations in genes that cause autosomal dominant or X-linked retinal dystrophy, or presence of biallelic mutations in autosomal recessive retinal dystrophy genes other than the gene studied in the patient cohort.;Ocular Exclusion Criteria
If both eyes have any of the following, the patient is not eligible:
1. Current vitreous hemorrhage
2. Current or any history of rhegmatogenous retinal detachment
3. Current or any history of (e.g., prior to cataract or refractive surgery) spherical
equivalent of the refractive error worse than -8 Diopters of myopia
4. History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
5. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
6. Expected to have cataract removal surgery during the study
7. History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Best corrected visual acuity; visual field sensitivity and area measured by<br /><br>static perimetry; fundus autofluorescence intensity data, mean retinal<br /><br>sensitivity as measured by fundus-guided microperimetry; ellipsoid zone area as<br /><br>measured by SD-OCT; retinal function using full-field ERG amplitudes and timing<br /><br>in response to rod- and cone-specific stimuli.</p><br>

Secondary Outcome Measures