The goal of this study is to characterize the natural history of STGD1 patients with the appropriate genotype for AON therapy and to identify the best clinical outcomes to measure therapeutic efficacy in clinical trials following completion of this…
ID
Source
Brief title
Condition
- Ocular structural change, deposit and degeneration NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Best corrected visual acuity, atrophic lesion size measured by fundus
autofluorescence,
mean retinal sensitivity as measured by fundus-guided microperimetry, area of
ellipsoid zone loss as measured by SD-OCT, visual field sensitivity measured by
static perimetry, macular and retinal function using multifocal and full-field
ERG amplitudes and implicit time, rod and cone full-field stimulus thresholds.
Secondary outcome
patient reported outcomes (questionnaire)
Background summary
Currently, there is no effective therapy for Stargardt disease (STGD1). STGD1
is caused by mutations in the ABCA4 gene. Several of these mutations are
amendable to antisense oligonucleaotide-based (AON) therapy. AONs have shown
promising results in clinical trials for other subtypes of retinal disease and
appear to be a good candidate therapeutic for STGD1. The current study aims to
define the natural history and clinical outcome parameters in STD1 patients
with the appropriate genotype for AON therapy. This will result in a better
understanding of the baseline progression of the disease and identification of
the best clinical outcomes to measure therapeutic efficacy in clinical trials
with AONs following completion of this project.
Study objective
The goal of this study is to characterize the natural history of STGD1 patients
with the appropriate genotype for AON therapy and to identify the best clinical
outcomes to measure therapeutic efficacy in clinical trials following
completion of this study.
Study design
Longitudinal observational cohort study.
Study burden and risks
Participants do not benefit, risks are considered negligible, procedures are
non-invasive and take 3 to 7 hours per visit, 2 visits per year for a total of
2 years. It is anticipated that, in the future, STGD1 patients will benefit
from AON therapy.
Geert Grooteplein Zuid 10
Nijmegen 6525GA
NL
Geert Grooteplein Zuid 10
Nijmegen 6525GA
NL
Listed location countries
Age
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
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL80174.091.21 |