Cone Rod Dystrophy, Juvenile Macular Degeneration, Stargardt Disease, Stargardt Disease 1
Conditions
Keywords
ABCA4, ABCA4-related retinopathy, Stargardt Disease, Stargardt macular dystrophy, Cone rod dystrophy, Gene editing, RNA, Gene Therapy, Exon editing, IRD, Inherited retinal disease, Inherited retinal dystrophy, Inherited retinal degeneration
Brief summary
This is an observational prescreening study. Individuals who are eligible for prescreening will undergo testing procedures that may be used to determine eligibility in ACDN-01 clinical trials.
Detailed description
The prescreening process will be used to help determine the initial eligibility and interest of potential participants in ACDN-01 clinical trials by conducting assessments of key eligibility criteria before the clinical trial screening procedures are performed.
Interventions
DIAGNOSTIC_TESTPrescreening Assessments
Various genetic and visual assessments.
Sponsors
Ascidian Therapeutics, Inc
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
5 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: * Presence of mutations in the ABCA4 gene * ABCA4 retinopathy phenotype (Stargardt disease type 1 or cone-rod dystrophy) Key
Exclusion criteria
* The presence of pathogenic or likely pathogenic mutations in other genes known to cause cone-rod dystrophy or Stargardt maculopathy * Retinal disease other than ABCA4-related retinopathy * Presence of a medical condition (systemic or ophthalmic), psychiatric condition, including substance abuse disorder, or physical examination or laboratory finding that may in the opinion of the principal investigator and sponsor preclude adherence to the scheduled study visits, safe participation in the study, or affect the results of the study.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Confirm mutations in the ABCA4 gene | 12 months | Using a Clinical Laboratory Improved Amendments (CLIA)-certified laboratory. |
| Confirm the absence of pathogenic mutations in genes known to cause retinal disease other than ABCA4-related retinopathy | 12 months | Using a Clinical Laboratory Improved Amendments (CLIA)-certified laboratory. |
| Measure BCVA and LLVA | 12 months | Measure best corrected visual acuity and low luminance visual acuity |
| Measure the area of retinal atrophy | 12 months | Using FAF imaging |
| Measure baseline retinal structure | 12 months | Using OCT (SD-OCT) |
| Historical FAF or OCT images | 4 years | Confirm historical timepoint images |
| Historical BCVA/LLVA measurements | 4 years | Collect past measurements |
Countries
United States
Contacts
CONTACTAssociate Director, Clinical Operations
STUDY_DIRECTORAlia Rashid
Ascidian Therapeutics
Outcome results
None listed