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Generation of Induced Pluripotent Stem (iPS) Cell Lines from Somatic Cells of Participants with Retinal Disease and from Somatic Cells of Matched Controls
This study is currently recruiting participants.
Summary | Eligibility | Citations | Contacts
Summary
Number |
11-EI-0245 |
Sponsoring Institute |
National Eye Institute (NEI) |
Recruitment Detail |
Type: Participants currently recruited/enrolled |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Special Instructions |
Currently Not Provided |
Keywords |
Best Disease; |
Recruitment Keyword(s) |
Retinal Degeneration; |
Condition(s) |
Retinal Disease; |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
|
- Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers.
Objectives:
- To collect hair, skin, and blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD.
Eligibility:
- Individuals at least 18 years of age who have Best disease, L-ORD, or AMD in at least one eye.
- Healthy volunteers at least 18 years of age.
Design:
- The study requires one visit to the National Eye Institute.
- Participants will be screened with a medical and eye disease history. They will also have an eye exam.
- Participants will provide a hair sample, a blood sample, and a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.
Eligibility
INCLUSION CRITERIA:
To be eligible, participants must meet the following inclusion criteria:
1. Participant has the ability to understand and sign an informed consent.
2. Participant meets one of the following criteria:
a. Participant has been diagnosed with Best disease, defined as the presence of lipofuscin-like deposits in the subretinal space and definitive mutations in the BEST1 gene.
b. Participant has been diagnosed with L-ORD, defined as problems in dark adaptation and the loss of rod and cone function, subretinal deposits, RPE atrophy and hemorrhage, and long anterior zonules in the lens.
c. Participant has been diagnosed with AMD, defined as the presence of:
i. large drusen in both eyes along with pigmentary changes with or without advanced AMD (neovascular AMD), or
ii. geographic atrophy in at least one eye.
d. Participant has been diagnosed with LCA, defined as a presentation that is typical of the disease and mutations in the CEP290 or CRX genes.
e. Participant has been diagnosed with Joubert syndrome, defined as the presence of retinal dysfunction and/or degeneration and mutations in the CEP290 or CC2D2A genes.
f. Participant has been diagnosed with X-linked RP, defined as a presentation that is typical of the disease and mutations in the RPGR or RP2 genes.
g. Participant is free of retinal diseases and could serve as an unaffected control. Participant's age (within five years), gender, and ethnicity must match an existing participant with Best disease, L-ORD, AMD, LCA, Joubert syndrome, or X-linked RP. Control participants matched to AMD participants must not have drusen greater than 63 microns in size.
3. Adult participant is able to provide a punch skin biopsy and 30 mL of peripheral venous blood OR child participant is able to provide a punch skin biopsy and the lesser of 5 mL/kg or 30 mL of peripheral venous blood. Sampling of ten occipital hairs may be pursued at the investigator's discretion. As a rule, samples will be collected on nonsedated/ anesthetized participants. Sedation/anesthesia will NOT be used solely for the purpose of sample collection. In rare instances where a minor requires sedation for another medically indicated procedure, samples may be collected at the time of sedation/anesthesia. Because young children may not be able to cooperate with sample collection, those unable to provide a skin biopsy and a blood sample may be excluded from the study, based on the judgment of the examining investigator.
4. Participant meets one of the following criteria:
a. Participant affected with LCA, Joubert syndrome, or RP is one year of age or older.
b. Participant affected with Best disease, L-ORD, or AMD is 18 years of age or older.
c. Unaffected participant is seven years of age or older and willing and able to provide assent.
EXCLUSION CRITERIA:
A participant is not eligible if any of the following exclusion criteria are present:
Participant is unable to comply with study procedures.
Participant has a systemic disease that, in the opinion of the investigator, compromises the ability to provide adequate samples. Examples of co-existing diseases that would exclude a participant include a bleeding diathesis or a genetic susceptibility to infections, particularly cutaneous infections.
Citations:
Contacts:
Principal Investigator |
Referral Contact |
For more information: |
| Brian P. Brooks, M.D. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N226 10 Center Drive Bethesda, Maryland 20892 (301) 435-3032 BrooksB@mail.nih.gov |
Allison T. Bamji, R.N. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10D45 10 Center Drive Bethesda, Maryland 20892 (301) 451-3437 bamjia@nei.nih.gov |
Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov |
Clinical Trials Number:
NCT01432847
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