Ensayos clínicos

Inclusion Criteria:

Participants must meet all the following inclusion criteria at the Registry/Screening Visit to be eligible to enroll into the genetic screening phase:

1. Willing to participate in the study and able to communicate consent during the consent
process

2. Willing and able to complete all applicable Registry/Screening Visit assessments

3. Age ≥ 4 years

4. Must have a single gene on the RD Rare Gene List which meets one of the Genetic
Screening Criteria below based on a genetic report* from a clinically certified lab
(or from a research lab which has been approved by the study Genetics Committee):

Inheritance Pattern is Recessive and has at least 2 disease-causing variants which are
homozygous or heterozygous in trans

OR

Inheritance Pattern is Recessive and has 2 disease-causing variants with unknown phase and
meets all the following additional informatic criteria that is consistent with likely
segregation in trans:

1. Investigator confirms genotype and phenotype are consistent with autosomal recessive
inheritance

2. The 2 disease-causing variants have not been reported in cis in variant databases

3. No additional potentially pathogenic variants were found on the gene (and the
sequencing data for the gene were sufficiently robust to detect any additional
potentially pathogenic variants)

4. No potentially pathogenic variants were found in other common, likely candidate genes
for the proposed condition

OR

Inheritance Pattern is Dominant, X-linked, or Mitochondrial and has at least 1
disease-causing variant

Both eyes must meet the following criteria at the Registry/Screening Visit to enroll into
the genetic screening phase:

1. Both eyes must have a clinical diagnosis of retinal dystrophy

2. Both eyes must permit good quality photographic imaging (e.g., but not limited to,
clear ocular media, adequate pupil dilation, stable fixation)

Exclusion Criteria:

Participants must not meet any of the following exclusion criteria at the
Registry/Screening Visit to be eligible to enroll into the genetic screening phase:

1. History of more than 1 year of cumulative treatment, at any time, with an agent
associated with pigmentary retinopathy including amiodarone, chloroquine, deferoxamine,
hydroxychloroquine, pentosan polysulfate, tamoxifen, and deferoxamine Note: Since this is
an observational study, pregnant women will not be specifically excluded from
participation. However, minors that are pregnant shall be precluded from participation
until they become the age of majority.

Ocular Exclusion Criteria:

If either eye has any of the following ocular exclusion criteria at the Registry/Screening
Visit, then the participant is not eligible to enroll into the genetic screening phase:

1. Current vitreous hemorrhage

2. Current complications of pathological myopia (for example, but not limited to, myopic
maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could
inhibit ability to obtain good quality photographic imaging

3. History of intraocular surgery (for example, but not limited to, cataract surgery,
vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening
Visit

4. Current or any history of confirmed diagnosis of glaucoma (for example, but not
limited to, glaucomatous VF changes or nerve changes, or history of glaucoma filtering
surgery)

5. Current or any history of retinal vascular occlusion or proliferative diabetic
retinopathy

6. History or current evidence of ocular disease that, in the opinion of the
Investigator, may confound assessment of visual function (for example, but not limited
to, tractional or rhegmatogenous retinal detachment, any vitreoretinal surgery,
retinal vascular occlusion, proliferative diabetic retinopathy)

7. The following medications and treatments are prohibited as they can affect progression
of retinitis pigmentosa (RP). The participant must not have received the following
treatments:

Any use of ocular stem cell or gene therapy Any treatment with ocriplasmin Treatment
with Ozurdex (dexamethasone), Iluvien, or Yutiq (fluocinolone acetonide) intravitreal
implant

8. The following medications and treatments are excluded within the specified timeframe:

Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date
is less than 9 months prior to Registry/Screening Visit date)

Treatment with any other product within five times the expected half-life of the product
(time from last treatment date to Registry/Screening Visit date is at least 5 times the
half-life of the given product)

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 5/12/23. Questions regarding updates should be directed to the study team contact