Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
| Status: | Recruiting |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/6/2019 |
| Start Date: | February 28, 2014 |
| End Date: | September 30, 2019 |
| Contact: | Delphine Blain, M.D. |
| Email: | dblain@mail.nih.gov |
| Phone: | (301) 496-1410 |
Objective: The objective of this study is to identify genetic causes of inherited eye
conditions through whole exome or whole genome sequencing. This includes identifying
mutations in known genes or novel genes for recognized conditions, as well as identifying
mutations in novel genes for previously uncharacterized genetic conditions involving the eye.
Study Population: We plan to recruit 310 participants, to include both probands with an eye
condition under study and unaffected family members. Ideally unaffected family members will
be parents of a proband.
Design: Participants will be recruited through other pre-existing NIH protocols, such as the
NEI Evaluation and Treatment protocol (08-EI-0169), the NEI Screening protocol (08-EI-0102),
and the Genetics of Uveal Coloboma protocol (13-EI-0049). Self-referred patients or patients
referred by an outside clinician will be screened for eligibility under a pre-existing NIH
protocol. Phenotyped patients eligible for participation and their unaffected family members
will undergo genetic counseling and will provide a blood sample for exome or genome
sequencing. Biological relationships will be confirmed prior to exome or genome sequencing.
Sequence data will be analyzed for primary variants associated with the proband s eye
condition and incidental findings, as recommended by the American College of Medical Genetics
guidelines. All sequence variants deemed clinically relevant will be validated in a
CLIA-certified laboratory and the results will be returned to the participant in-person.
Outcome Measures: This is an etiologic study that will generate molecular information about
previously-recognized conditions for which participants did not have a molecular diagnosis,
as well as molecular information for previously uncharacterized conditions involving the eye.
conditions through whole exome or whole genome sequencing. This includes identifying
mutations in known genes or novel genes for recognized conditions, as well as identifying
mutations in novel genes for previously uncharacterized genetic conditions involving the eye.
Study Population: We plan to recruit 310 participants, to include both probands with an eye
condition under study and unaffected family members. Ideally unaffected family members will
be parents of a proband.
Design: Participants will be recruited through other pre-existing NIH protocols, such as the
NEI Evaluation and Treatment protocol (08-EI-0169), the NEI Screening protocol (08-EI-0102),
and the Genetics of Uveal Coloboma protocol (13-EI-0049). Self-referred patients or patients
referred by an outside clinician will be screened for eligibility under a pre-existing NIH
protocol. Phenotyped patients eligible for participation and their unaffected family members
will undergo genetic counseling and will provide a blood sample for exome or genome
sequencing. Biological relationships will be confirmed prior to exome or genome sequencing.
Sequence data will be analyzed for primary variants associated with the proband s eye
condition and incidental findings, as recommended by the American College of Medical Genetics
guidelines. All sequence variants deemed clinically relevant will be validated in a
CLIA-certified laboratory and the results will be returned to the participant in-person.
Outcome Measures: This is an etiologic study that will generate molecular information about
previously-recognized conditions for which participants did not have a molecular diagnosis,
as well as molecular information for previously uncharacterized conditions involving the eye.
Objective: The objective of this study is to identify genetic causes of inherited eye
conditions through whole exome or whole genome sequencing. This includes identifying
mutations in known genes or novel genes for recognized conditions, as well as identifying
mutations in novel genes for previously uncharacterized genetic conditions involving the eye.
Study Population: We plan to recruit 510 participants, to include both probands with an eye
condition under study and unaffected family members. Ideally unaffected family members will
be parents of a proband.
Design: Participants will be recruited through other pre-existing NIH protocols, such as the
NEI Screening protocol (08-EI-0102), the NEI Ocular Natural History protocol (16-EI-0134),
the Genetics of Inherited Eye Disease protocol (15-EI-0128), and the Genetics of Uveal
Coloboma protocol (13-EI-0049). Self-referred patients or patients referred by an outside
clinician will be screened for eligibility under a pre-existing NIH protocol. Phenotyped
patients eligible for participation and their unaffected family members will undergo genetic
counseling and will provide a blood sample for exome or genome sequencing. Biological
relationships will be confirmed prior to exome or genome sequencing. Sequence data will be
analyzed for primary variants associated with the proband s eye condition and secondary
findings (SFs), unless participants choose to opt-out of this part of the analysis and
reporting. All sequence variants deemed clinically relevant will be validated in a
CLIA-certified laboratory and the results will be returned to the participant in-person or by
telephone.
Outcome Measures: This is an etiologic study that will generate molecular information about
previously-recognized conditions for which participants did not have a molecular diagnosis,
as well as molecular information for previously uncharacterized conditions involving the eye.
conditions through whole exome or whole genome sequencing. This includes identifying
mutations in known genes or novel genes for recognized conditions, as well as identifying
mutations in novel genes for previously uncharacterized genetic conditions involving the eye.
Study Population: We plan to recruit 510 participants, to include both probands with an eye
condition under study and unaffected family members. Ideally unaffected family members will
be parents of a proband.
Design: Participants will be recruited through other pre-existing NIH protocols, such as the
NEI Screening protocol (08-EI-0102), the NEI Ocular Natural History protocol (16-EI-0134),
the Genetics of Inherited Eye Disease protocol (15-EI-0128), and the Genetics of Uveal
Coloboma protocol (13-EI-0049). Self-referred patients or patients referred by an outside
clinician will be screened for eligibility under a pre-existing NIH protocol. Phenotyped
patients eligible for participation and their unaffected family members will undergo genetic
counseling and will provide a blood sample for exome or genome sequencing. Biological
relationships will be confirmed prior to exome or genome sequencing. Sequence data will be
analyzed for primary variants associated with the proband s eye condition and secondary
findings (SFs), unless participants choose to opt-out of this part of the analysis and
reporting. All sequence variants deemed clinically relevant will be validated in a
CLIA-certified laboratory and the results will be returned to the participant in-person or by
telephone.
Outcome Measures: This is an etiologic study that will generate molecular information about
previously-recognized conditions for which participants did not have a molecular diagnosis,
as well as molecular information for previously uncharacterized conditions involving the eye.
- INCLUSION CRITERIA
1. Participant is affected with an eye condition under study, or is a family member
of an affected individual who will be informative for WES/WGS analysis and
interpretation.
2. Participant or legal guardian of participant understands and signs the informed
consent document.
EXCLUSION CRITERIA
1. Participants who cannot comply with study procedures are ineligible.
2. Participants who are minors or participants who are adults and are decisionally
impaired are ineligible if they do not have a legal guardian who can consent and make
decisions on their behalf. Documentation of legal guardianship must be provided for
decisionally impaired adults.
3. Participants who are minors and under joint custody are ineligible if parents are in
disagreement about study participation.
4. Prospective participants or their legal guardians who, based on the judgment of the
team, appear to have impaired ability to understand and appropriately use complex
medical and genetic information, or to cope with potentially life altering medical
information, will be ineligible.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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