Evaluation and Treatment of Patients With Inherited Eye Diseases
| Status: | Completed |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | February 2001 |
| End Date: | March 2007 |
Evaluation and Treatment Protocol for Potential Research Subjects With Inherited Ophthalmic Diseases
This study offers evaluation and treatment for patients with inherited (genetic) eye
diseases. The protocol is not designed to test new treatments; rather, patients will receive
current standard of care treatments. The purpose of the study is twofold: 1) to allow
National Eye (NEI) Institute physicians to increase their knowledge of various genetic eye
diseases, identify possible new avenues of research in this area, and maintain their
clinical skills; and 2) to establish a pool of patients who may be eligible for new studies
as they are developed. (Participants in this protocol will not be required to join a new
study; the decision will be voluntary.)
Children and adults with genetic eye diseases may be eligible for this study. Candidates
will be screened with a medical and family history, thorough eye examination and blood test.
The eye examination includes measurements of eye pressure and visual acuity (ability to see
the vision chart) and dilation of the pupils with eye drops to examine the lens and retina
(back part of the eye). Patients may also undergo additional diagnostic tests needed to
determine eligibility for other NEI studies, including routine laboratory testing, imaging,
questionnaires, a physical examination, and other standard and specialized tests and
procedures as needed. In addition, patients will have special photographs taken of the eye
to document the clarity or opacity of the eye lens. They will also undergo a procedure
called electroretinography to assess the eye's response to bright lights. For this
procedure, the eye is numbed with anesthetic drops and a contact lens is placed in the eye.
The patient looks inside a large, hollow sphere and sees flashes of light, first in darkness
and then in light. The contact lenses sense small electrical signals generated by the
retina.
Patients who need medical care will be given appropriate standard medical treatment. Those
who are found eligible for a research study will be recommended for participation in that
study and taken off this one.
Participants will be followed at least 3 years. Follow-up visits are scheduled according to
the standard of care for the individual patient's eye problem. Patients in this protocol
will probably have 1 to 3 follow-up visits per year.
diseases. The protocol is not designed to test new treatments; rather, patients will receive
current standard of care treatments. The purpose of the study is twofold: 1) to allow
National Eye (NEI) Institute physicians to increase their knowledge of various genetic eye
diseases, identify possible new avenues of research in this area, and maintain their
clinical skills; and 2) to establish a pool of patients who may be eligible for new studies
as they are developed. (Participants in this protocol will not be required to join a new
study; the decision will be voluntary.)
Children and adults with genetic eye diseases may be eligible for this study. Candidates
will be screened with a medical and family history, thorough eye examination and blood test.
The eye examination includes measurements of eye pressure and visual acuity (ability to see
the vision chart) and dilation of the pupils with eye drops to examine the lens and retina
(back part of the eye). Patients may also undergo additional diagnostic tests needed to
determine eligibility for other NEI studies, including routine laboratory testing, imaging,
questionnaires, a physical examination, and other standard and specialized tests and
procedures as needed. In addition, patients will have special photographs taken of the eye
to document the clarity or opacity of the eye lens. They will also undergo a procedure
called electroretinography to assess the eye's response to bright lights. For this
procedure, the eye is numbed with anesthetic drops and a contact lens is placed in the eye.
The patient looks inside a large, hollow sphere and sees flashes of light, first in darkness
and then in light. The contact lenses sense small electrical signals generated by the
retina.
Patients who need medical care will be given appropriate standard medical treatment. Those
who are found eligible for a research study will be recommended for participation in that
study and taken off this one.
Participants will be followed at least 3 years. Follow-up visits are scheduled according to
the standard of care for the individual patient's eye problem. Patients in this protocol
will probably have 1 to 3 follow-up visits per year.
This "Evaluation and Treatment Protocol" will allow the geneticists and ophthalmic genetic
specialists at the NEI to identify, follow and provide "standard of care" treatment to
patients with genetic eye disease. The primary purpose of the protocol is to accumulate a
cohort of patients with genetic eye disease for possible participation in NEI studies. A
secondary purpose is to provide long-term follow-up and treatment for a variety of genetic
eye diseases so that the genetic specialists at NEI will be better able to identify research
hypotheses about these diseases in addition to maintaining their clinical skills. The
availability of cohorts of patients with a spectrum of genetic disorders will be valuable
for the training of fellows in ophthalmic genetics, an important mission of the NEI.
Finally, the ability to provide long-term follow-up and care will also facilitate referral
efforts for new NEI protocols.
The genetic specialists at the National Eye Institute will be free to choose those genetic
conditions that interest them. However, the total number of patients that can be enrolled in
the protocol will be restricted. This protocol is not designed to test any new treatments.
Any evaluations or treatment under this protocol will be based on the current standard of
care for each genetic condition.
Participants in this patient evaluation and treatment protocol will be evaluated for
potential eligibility in any new NEI clinical studies as they are developed. If eligible,
patients may be asked to participate in the new protocol. However, they will not be required
to enter any protocol and their decision to participate will be entirely voluntary. No more
than 150 patients will be accepted in this "Evaluation and Treatment Protocol."
specialists at the NEI to identify, follow and provide "standard of care" treatment to
patients with genetic eye disease. The primary purpose of the protocol is to accumulate a
cohort of patients with genetic eye disease for possible participation in NEI studies. A
secondary purpose is to provide long-term follow-up and treatment for a variety of genetic
eye diseases so that the genetic specialists at NEI will be better able to identify research
hypotheses about these diseases in addition to maintaining their clinical skills. The
availability of cohorts of patients with a spectrum of genetic disorders will be valuable
for the training of fellows in ophthalmic genetics, an important mission of the NEI.
Finally, the ability to provide long-term follow-up and care will also facilitate referral
efforts for new NEI protocols.
The genetic specialists at the National Eye Institute will be free to choose those genetic
conditions that interest them. However, the total number of patients that can be enrolled in
the protocol will be restricted. This protocol is not designed to test any new treatments.
Any evaluations or treatment under this protocol will be based on the current standard of
care for each genetic condition.
Participants in this patient evaluation and treatment protocol will be evaluated for
potential eligibility in any new NEI clinical studies as they are developed. If eligible,
patients may be asked to participate in the new protocol. However, they will not be required
to enter any protocol and their decision to participate will be entirely voluntary. No more
than 150 patients will be accepted in this "Evaluation and Treatment Protocol."
- INCLUSION CRITERIA:
Patients are initially screened for NEI protocols under the NEI screening protocol or from
closeout of another protocol. Some of these patients will have a genetic eye disease that
NEI staff wishes to follow and treat. Such patients can then be enrolled in this
evaluation and treatment protocol. Each study participant must have the ability to
understand and sign an informed consent form.
EXCLUSION CRITERIA:
Patients will be excluded from this study if they are unable or unwilling to give informed
consent or they are unwilling to be followed and treated at the NEI clinical center for at
least the next 3 years.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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