Genetics of Inherited Eye Disease
| Status: | Recruiting |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 1/17/2019 |
| Start Date: | June 12, 2015 |
| End Date: | May 1, 2020 |
| Contact: | Daniel W Claus, R.N. |
| Email: | daniel.claus@nih.gov |
| Phone: | (301) 496-9058 |
The Genetics of Inherited Eye Disease
Background:
Research has identified some of the genes involved in inherited eye diseases. But for many of
these diseases, the genes are not yet known. Researchers want to try to find these genes.
They also hope to learn more about how symptoms differ in people with similar gene changes.
Objective:
To learn more about genes involved in eye diseases.
Eligibility:
People who have a known or suspected inherited eye disease, and their relatives.
Design:
- All participants will have a medical history, physical exam, and eye exam. They may have
blood taken.
- Participants with an eye disease may have eye cell samples taken using a swab or biopsy
procedure.
- Participants may have a skin biopsy. A (Omega)-inch piece of skin will be removed.
- Participants may have blood drawn and the red blood cells removed. The remaining serum
will be made into an eye drop solution for the participant.
- Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek
cells.
- Participants may have a retina test. They may also have a test that uses light to
measure retina thickness.
- Participants may have an eye movement test. Electrodes will be placed on the skin next
to both eyes.
- Participants may have a fluorescein angiography. A dye will be given through an
intravenous line in the arm. A camera will take pictures of the dye as it flows through
the eyes blood vessels.
- Participants may have microperimetry. They will sit at a computer screen and press a
button when they see a light.
- Participants may have an eye movement test. They will wear contact lenses or goggles and
watch a series of spots on a computer screen.
Research has identified some of the genes involved in inherited eye diseases. But for many of
these diseases, the genes are not yet known. Researchers want to try to find these genes.
They also hope to learn more about how symptoms differ in people with similar gene changes.
Objective:
To learn more about genes involved in eye diseases.
Eligibility:
People who have a known or suspected inherited eye disease, and their relatives.
Design:
- All participants will have a medical history, physical exam, and eye exam. They may have
blood taken.
- Participants with an eye disease may have eye cell samples taken using a swab or biopsy
procedure.
- Participants may have a skin biopsy. A (Omega)-inch piece of skin will be removed.
- Participants may have blood drawn and the red blood cells removed. The remaining serum
will be made into an eye drop solution for the participant.
- Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek
cells.
- Participants may have a retina test. They may also have a test that uses light to
measure retina thickness.
- Participants may have an eye movement test. Electrodes will be placed on the skin next
to both eyes.
- Participants may have a fluorescein angiography. A dye will be given through an
intravenous line in the arm. A camera will take pictures of the dye as it flows through
the eyes blood vessels.
- Participants may have microperimetry. They will sit at a computer screen and press a
button when they see a light.
- Participants may have an eye movement test. They will wear contact lenses or goggles and
watch a series of spots on a computer screen.
OBJECTIVE:
Molecular genetics and genomics are revolutionizing the delivery of medicine in general and
ophthalmology in particular. New treatment and prevention strategies rely on a detailed
understanding of the genetics and molecular pathogenesis of vision-threatening disease. In
addition, in order to determine whether an intervention is therapeutic, we must first have
some understanding of what the best clinical outcome variables are for measuring a treatment
effect. Because our ultimate goal is to develop disease-specific protocols for specific
inherited conditions, establishing this protocol will help us establish an initial critical
mass of patients and of knowledge to write such protocols; as such, this protocol will be
hypothesis generating. A secondary aim of this protocol is to provide a mechanism for
obtaining research samples from subjects that may be used for laboratory investigations; in
this case, the basic research may be both hypothesis generating and/or hypothesis testing.
Lastly, the Ophthalmic Genetics Branch, as a leader in the field and a sponsor of a clinical
training program, should have the ability to serve as a tertiary referral center for the
nation in the area of undiagnosed genetic eye diseases.
STUDY POPULATION:
One thousand two hundred and fifty (1250) individuals with inherited eye diseases and their
relatives will be enrolled.
DESIGN:
This is a combined evaluation/treatment protocol and a genetic repository study. In general,
participants will undergo a complete, age-appropriate, baseline examination and provide a
blood sample. Some participants may undergo more specialized ophthalmic and/or systemic
testing, if felt clinically indicated by the investigator. In some cases, collection of
readily available body fluids (e.g., urine, saliva) and/or a punch skin biopsy may also be
performed for diagnostic and/or research purposes.
OUTCOME MEASURES:
Given the breadth of ages and disease processes covered under this protocol, we will not
systematically obtain any single outcome variable beyond visual acuity on research subjects.
However, detailed, disease-specific findings will be collected through the NEI electronic
medical record. Findings from systemic testing and from outside exams may be tabulated in a
separate, secure database in the laboratory of the Principal Investigator (PI).
Molecular genetics and genomics are revolutionizing the delivery of medicine in general and
ophthalmology in particular. New treatment and prevention strategies rely on a detailed
understanding of the genetics and molecular pathogenesis of vision-threatening disease. In
addition, in order to determine whether an intervention is therapeutic, we must first have
some understanding of what the best clinical outcome variables are for measuring a treatment
effect. Because our ultimate goal is to develop disease-specific protocols for specific
inherited conditions, establishing this protocol will help us establish an initial critical
mass of patients and of knowledge to write such protocols; as such, this protocol will be
hypothesis generating. A secondary aim of this protocol is to provide a mechanism for
obtaining research samples from subjects that may be used for laboratory investigations; in
this case, the basic research may be both hypothesis generating and/or hypothesis testing.
Lastly, the Ophthalmic Genetics Branch, as a leader in the field and a sponsor of a clinical
training program, should have the ability to serve as a tertiary referral center for the
nation in the area of undiagnosed genetic eye diseases.
STUDY POPULATION:
One thousand two hundred and fifty (1250) individuals with inherited eye diseases and their
relatives will be enrolled.
DESIGN:
This is a combined evaluation/treatment protocol and a genetic repository study. In general,
participants will undergo a complete, age-appropriate, baseline examination and provide a
blood sample. Some participants may undergo more specialized ophthalmic and/or systemic
testing, if felt clinically indicated by the investigator. In some cases, collection of
readily available body fluids (e.g., urine, saliva) and/or a punch skin biopsy may also be
performed for diagnostic and/or research purposes.
OUTCOME MEASURES:
Given the breadth of ages and disease processes covered under this protocol, we will not
systematically obtain any single outcome variable beyond visual acuity on research subjects.
However, detailed, disease-specific findings will be collected through the NEI electronic
medical record. Findings from systemic testing and from outside exams may be tabulated in a
separate, secure database in the laboratory of the Principal Investigator (PI).
- INCLUSION CRITERIA:
Participants will be eligible if they:
1. Have a known or suspected inherited eye disease OR are an unaffected (usually first
degree) relative of a participant with a known or suspected inherited eye disease.
2. Have the ability to cooperate with an age-appropriate eye exam.
3. Have the ability to understand and sign an informed consent or have a parent/legal
guardian to do so if they are minor children.
EXCLUSION CRITERIA:
Participants will not be eligible if:
1. They are unwilling or unable to be followed as clinically indicated.
2. They have a clear, non-genetic disease etiology (unless they are an unaffected
relative).
3. Their participation would not contribute to the NEI research mission, at the
discretion of the PI.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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