Prospective clinical evaluation of Stargardt disease patients with the appropriate genotype for development of antisense oligonucleotide therapy

Recruiting

Conditions: Inherited retinal disease
Stargardt disease
10042261

Registration Number: NL-OMON51692

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 60

Inclusion Criteria

Study Participant Inclusion Criteria
In order to be eligible to participate in this study, a subject must meet all
of the following criteria:
1. Clinical diagnosis of STGD1 and at least one pathogenic or likely pathogenic
mutation and one of the mutations should be either c.768G>T, c.4539+2001G>A or
c.5196+1137G>A
2. Willingness and ability to participate in this study and to complete the
informed consent
3. Willingness and ability to return for the five study visits over 24 months
4. Age >= 6 years

Ocular Inclusion criteria
Both eyes of the participant must meet the following criteria:
1. Baseline visual acuity ETDRS letter score of 35 or more (approximate Snellen
equivalent 20/200 or better, decimal acuity >=0.1)
2. Stable fixation and ability to perform perimetry reliable
3. Clear ocular media and adequate pupil dilation to permit good quality
imaging

Exclusion Criteria

If either of one eyes has any of the following, the patient is not eligible to
participate in this study:
1. Current vitreous haemorrhage
2. Current or any history of tractional or 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 of proliferative
diabetic retinopathy
6. Expected to have cataract removal during the study
7. History of current evidence of ocular disease that, in the opinion of the
investigator, may confound assessment of visual function
8. Current participation in a clinical trial for treatment of STGD1
9. History of participation in a clinical trial for treatment of IRD with
irreversible effect, like gene-therapy
10. History of participation in a clinical trial for treatment of STGD1 with
reversible effect, for which the wash-out time has not yet passed

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Best corrected visual acuity, atrophic lesion size measured by fundus<br /><br>autofluorescence,<br /><br>mean retinal sensitivity as measured by fundus-guided microperimetry, area of<br /><br>ellipsoid zone loss as measured by SD-OCT, visual field sensitivity measured by<br /><br>static perimetry, macular and retinal function using multifocal and full-field<br /><br>ERG amplitudes and implicit time, rod and cone full-field stimulus thresholds.</p><br>

Secondary Outcome Measures