Eye DiseasesNCT00076271
Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases
An observational study of Eye Diseases, run by National Eye Institute (NEI) at 2 sites in United States.
Trial summary
This study will evaluate and treat children or adults with inherited or developmental eye conditions. It will allow specialists in pediatric ophthalmology, genetic ophthalmology, and ocular motility at the National Eye Institute (NEI) to learn more about the course of various pediatric, genetic, developmental, and eye… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Eye Diseases
- How many people
- 350 participants
- Where
- 2 sitesUnited States
- Study dates
- 14 Jan 2004to 28 Oct 2008
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Subjects will be able to enroll if they:
- Are a pediatric patient, of any age, with ophthalmic conditions, especially inherited or developmental conditions, OR
- Are an adult patient with an eye disorder that began in childhood or that is likely to have a genetic/developmental component, OR
- Are an unaffected first-degree relative that we believe that will aid in our diagnosis or future research objectives, AND
- Have the ability to understand and sign an informed consent OR have a legal parent/guardian with the ability to do the same.
Who cannot join
- Subjects will not be eligible if they:
- Are unable to follow-up as clinically indicated.
- Have a severe systemic disease that compromises our ability to provide adequate examination and/or treatment.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
Rocky Mountain Lions Eye Institute
Denver, Colorado
About this study
Official title: Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases
This study will evaluate and treat children or adults with inherited or developmental eye conditions. It will allow specialists in pediatric ophthalmology, genetic ophthalmology, and ocular motility at the National Eye Institute (NEI) to learn more about the course of various pediatric, genetic, developmental, and eye movement diseases thorough long-term observation and treatment. It will also serve as the first step in determining the eligibility of patients who may wish to enroll in other NEI clinical research studies or undergo standard eye treatments.
Children with eye conditions, especially inherited or developmental conditions, and adults with eye disorders that began in childhood or that likely have a genetic or developmental component may be eligible for this study. Participants will undergo some or all of the following procedures:
Read more
- Medical history, including family history.
- Physical examination and possibly routine blood tests, x-rays tests, standard eye movement recordings, questionnaires, and specialized procedures when needed.
- Complete eye examination, including vision test, visual perception, eye pressure (if possible), dilation of the pupils to examine the back of the eye (lens, vitreous, and retina).
- Photographs of the eyes.
- Oculography (eye movement recordings) in patients for whom testing will aid in diagnosis. This test is done either with goggles placed over the eyes or with a contact lens placed on each eye. When the goggles or lenses are in place, the subject looks at a series of red targets on a computer screen.
- Electroretinography (ERG) in patients with suspected retinal degeneration. This is a test of the electrical function of the eyes. Before the test, patients sit in a dark room for 30 minutes with their eyes patched. A small electrode (silver disk) is taped to their forehead. The eye patches are then removed, the eyes are numbed with drops, and contact lenses are placed in the eyes. The contact lenses sense small electrical signals generated by the retina when lights flash. During the ERG recording, the patient looks inside a large empty bowl. A light flashes, first in the dark and then with a light turned on inside the bowl. The test takes 1 hour or less.
Participants are followed up to 6 times a year for 3 years, depending on the diagnosis and treatment.
Read the detailed description
The purpose of this protocol is to allow the pediatric ophthalmology, genetic ophthalmology, and ocular motility specialists at the National Eye Institute to gain additional knowledge of the course of various pediatric, genetic, developmental and ocular motility diseases. Heretofore, this spectrum of diseases will be referred to as pediatric ophthalmology diseases. We wish to evaluate the effects of standard treatments for these diseases, use non- or minimally-invasive technologies to understand the pathogenesis of these diseases, and to collect blood or other easily obtained biologic sample (e.g., urine, saliva, hair, cheek swab, or stool) for future laboratory studies on these diseases. The information gained from this protocol will also allow for the maintenance of populations of patients with specific pediatric eye diseases and strabismus that may be eligible for future protocols. In addition, by allowing for the care of patients with a spectrum of these diseases, the protocol will be valuable for the training of pediatric eye disease, ocular genetics, and ocular motility fellows. The pediatric, genetic, and eye movement specialists at the National Eye Institute will choose ophthalmology diseases based on the training and research needs of the NEI program. While the primary focus of this protocol is to study eye disease in children, adults who have a disease that began in childhood or who may have an inherited eye disease or are unaffected first-degree relatives may also be evaluated under this protocol.
This protocol is not designed to test any new treatments. Any evaluation of treatments under this protocol will be based on the standard-of-care for each patient's disease. All alternatives for evaluation and care will be reviewed with each patient and the patient's family.
Patients in this evaluation and treatment protocol will be evaluated for potential eligibility in any new NEI clinical trials or epidemiological protocols as they are developed. If eligible, patients may be asked to participate in a new protocol. However, they will not be required to enter any new protocol and their decision to participate will be entirely voluntary.
- Conditions
- Eye Diseases
- Keywords
- Strabismus, Cataract, Pediatric, Optic Nerve Anomaly, Coloboma, Evaluation and Treatment, Pediatric Ophthalmology, Genetic Eye Disease, Nystagmus, Pediatric Eye Disease, Developmental Eye Condition, Cataract, Juvenile Glaucoma, Eye Movement Disorder
- Medical subject headings
- Eye Diseases, Strabismus, Cataract, Coloboma, Nystagmus, Pathologic, Hydrophthalmos, Ocular Motility Disorders
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2004 (estimated)
- Study start14 Jan 2004
- Study completion28 Oct 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Eye DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 350 participants
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00076271
- Sponsor's protocol ID
- 040039
- Other IDs
- 04-EI-0039
- Status last verified
- 28 Oct 2008
- First submitted
- 16 Jan 2004
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Tang J, Gokhale PA, Brooks SE, Blain D, Brooks BP. Increased corneal thickness in patients with ocular coloboma. J AAPOS. 2006 Apr;10(2):175-7. doi: 10.1016/j.jaapos.2005.12.003. No abstract available.
PubMed 16678756Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6.
PubMed 16932062Brooks BP, Meck JM, Haddad BR, Bendavid C, Blain D, Toretsky JA. Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature. BMC Med Genet. 2006 Jan 13;7:2. doi: 10.1186/1471-2350-7-2.
PubMed 16412230
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases
- ClinicalTrials.gov ID
- NCT00076271
- Acronym / sponsor ID
- 040039
- Conditions
- Eye Diseases
- Keywords
- Strabismus, Cataract, Pediatric, Optic Nerve Anomaly, Coloboma, Evaluation and Treatment, Pediatric Ophthalmology, Genetic Eye Disease, Nystagmus
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 350 participants
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 14 Jan 2004
- Study completion
- 28 Oct 2008
- First posted
- 19 Jan 2004 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will evaluate and treat children or adults with inherited or developmental eye conditions. It will allow specialists in pediatric ophthalmology, genetic ophthalmology, and ocular motility at the National Eye Institute (NEI) to learn more about the course of various pediatric, genetic, developmental, and eye movement diseases thorough long-term observation and treatment. It will also serve as the first step in determining the eligibility of patients who may wish to enroll in other NEI clinical research studies or undergo standard eye treatments.
Children with eye conditions, especially inherited or developmental conditions, and adults with eye disorders that began in childhood or that likely have a genetic or developmental component may be eligible for this study. Participants will undergo some or all of the following procedures:
- Medical history, including family history.
- Physical examination and possibly routine blood tests, x-rays tests, standard eye movement recordings, questionnaires, and specialized procedures when needed.
- Complete eye examination, including vision test, visual perception, eye pressure (if possible), dilation of the pupils to examine the back of the eye (lens, vitreous, and retina).
- Photographs of the eyes.
- Oculography (eye movement recordings) in patients for whom testing will aid in diagnosis. This test is done either with goggles placed over the eyes or with a contact lens placed on each eye. When the goggles or lenses are in place, the subject looks at a series of red targets on a computer screen.
- Electroretinography (ERG) in patients with suspected retinal degeneration. This is a test of the electrical function of the eyes. Before the test, patients sit in a dark room for 30 minutes with their eyes patched. A small electrode (silver disk) is taped to their forehead. The eye patches are then removed, the eyes are numbed with drops, and contact lenses are placed in the eyes. The contact lenses sense small electrical signals generated by the retina when lights flash. During the ERG recording, the patient looks inside a large empty bowl. A light flashes, first in the dark and then with a light turned on inside the bowl. The test takes 1 hour or less.
Participants are followed up to 6 times a year for 3 years, depending on the diagnosis and treatment.
Detailed description
The purpose of this protocol is to allow the pediatric ophthalmology, genetic ophthalmology, and ocular motility specialists at the National Eye Institute to gain additional knowledge of the course of various pediatric, genetic, developmental and ocular motility diseases. Heretofore, this spectrum of diseases will be referred to as pediatric ophthalmology diseases. We wish to evaluate the effects of standard treatments for these diseases, use non- or minimally-invasive technologies to understand the pathogenesis of these diseases, and to collect blood or other easily obtained biologic sample (e.g., urine, saliva, hair, cheek swab, or stool) for future laboratory studies on these diseases. The information gained from this protocol will also allow for the maintenance of populations of patients with specific pediatric eye diseases and strabismus that may be eligible for future protocols. In addition, by allowing for the care of patients with a spectrum of these diseases, the protocol will be valuable for the training of pediatric eye disease, ocular genetics, and ocular motility fellows. The pediatric, genetic, and eye movement specialists at the National Eye Institute will choose ophthalmology diseases based on the training and research needs of the NEI program. While the primary focus of this protocol is to study eye disease in children, adults who have a disease that began in childhood or who may have an inherited eye disease or are unaffected first-degree relatives may also be evaluated under this protocol.
This protocol is not designed to test any new treatments. Any evaluation of treatments under this protocol will be based on the standard-of-care for each patient's disease. All alternatives for evaluation and care will be reviewed with each patient and the patient's family.
Patients in this evaluation and treatment protocol will be evaluated for potential eligibility in any new NEI clinical trials or epidemiological protocols as they are developed. If eligible, patients may be asked to participate in a new protocol. However, they will not be required to enter any new protocol and their decision to participate will be entirely voluntary.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Are a pediatric patient, of any age, with ophthalmic conditions, especially inherited or developmental conditions, OR
- Are an adult patient with an eye disorder that began in childhood or that is likely to have a genetic/developmental component, OR
- Are an unaffected first-degree relative that we believe that will aid in our diagnosis or future research objectives, AND
- Have the ability to understand and sign an informed consent OR have a legal parent/guardian with the ability to do the same.
Key exclusion criteria (3 listed)
- Are unable to follow-up as clinically indicated.
- Have a severe systemic disease that compromises our ability to provide adequate examination and/or treatment.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
- Background: PubMed 16678756Tang J, Gokhale PA, Brooks SE, Blain D, Brooks BP. Increased corneal thickness in patients with ocular coloboma. J AAPOS. 2006 Apr;10(2):175-7. doi: 10.1016/j.jaapos.2005.12.003. No abstract available.
- Background: PubMed 16932062Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6.
- Background: PubMed 16412230Brooks BP, Meck JM, Haddad BR, Bendavid C, Blain D, Toretsky JA. Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature. BMC Med Genet. 2006 Jan 13;7:2. doi: 10.1186/1471-2350-7-2.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Eye Diseases, run by National Eye Institute (NEI) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00076271, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017.