Purpose of this Study
We are doing this study to learn more about variants in people's genes that cause cells in the back of the eye to function incorrectly and lead to a process called "retinal degeneration."
Who Can Participate?
Eligibility
Adults and children ages 4+ who:
- Are diagnosed with retinal dystrophy
- Have tested positive for a gene on the rare gene list
For more information about who can be in this study, please contact the study team at DEC-RA@duke.edu.
- Are diagnosed with retinal dystrophy
- Have tested positive for a gene on the rare gene list
For more information about who can be in this study, please contact the study team at DEC-RA@duke.edu.
Age Range
4-110
Sex/Genders
Male (cisgender)
Female (cisgender)
Non-binary or gender fluid
Transgender male
Transgender female
Looking for Healthy Participants
No
What is Involved?
This study has two parts: a "registry phase" and a "Natural History Study" phase.
If you choose to join the study, you will first take part in the registry phase. This phase involves having a phone conversation with us once a year for four years or until you begin the Natural History Study phase, whichever comes first.
The Natural History Study phase will involve researching the particular gene you have.
If you get in the Natural History Study phase, you will:
- Receive an assignment to 1 of 3 groups based on your vision
- Have study visits at the Eye Center or phone conversations every year for four years, depending on the group you are in
Study visits may include blood tests, questionnaires, and eye exams and vision tests.
This is a data collection study. There are no experimental study procedures or drugs involved.
If you choose to join the study, you will first take part in the registry phase. This phase involves having a phone conversation with us once a year for four years or until you begin the Natural History Study phase, whichever comes first.
The Natural History Study phase will involve researching the particular gene you have.
If you get in the Natural History Study phase, you will:
- Receive an assignment to 1 of 3 groups based on your vision
- Have study visits at the Eye Center or phone conversations every year for four years, depending on the group you are in
Study visits may include blood tests, questionnaires, and eye exams and vision tests.
This is a data collection study. There are no experimental study procedures or drugs involved.
Locations
Duke University Hospital
Visit Timing
Weekdays
Compensation
Yes
Spanish Materials Available
No
Study Details
Full Title
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants
Principal Investigator
Ramiro
Maldonado
Protocol Number
PRO00112084
NCT ID
NCT05589714
Phase
N/A
Enrollment Status
OPEN TO ACCRUAL