Trial record 3 of 30 for:    brian p brooks

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
ClinicalTrials.gov Identifier:
NCT02077894
First received: February 28, 2014
Last updated: May 13, 2014
Last verified: February 2014
  Purpose

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 150 participants, to include approximately 50 probands with an eye condition under study and approximately 100 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.


Condition
Genetic Eye Disease

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • This is an etiologic study only. [ Time Frame: 5 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 150
Study Start Date: February 2014
Estimated Study Completion Date: September 2018
Estimated Primary Completion Date: September 2018 (Final data collection date for primary outcome measure)
Detailed Description:

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 150 participants, to include approximately 50 probands with an eye condition under study and approximately 100 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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02077894

Contacts
Contact: Delphine Blain, M.D. (301) 496-1410 dblain@mail.nih.gov
Contact: Brian P Brooks, M.D. (301) 496-3577 brooksb@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)
  More Information

Additional Information:
Publications:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
ClinicalTrials.gov Identifier: NCT02077894     History of Changes
Other Study ID Numbers: 140064, 14-EI-0064
Study First Received: February 28, 2014
Last Updated: May 13, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Whole Genome Sequencing
Genetic Eye Disease

Additional relevant MeSH terms:
Eye Diseases

ClinicalTrials.gov processed this record on September 18, 2014