RECRUITING

Cell Collection to Study Eye Diseases

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Conditions

Retinal DiseaseAMDRetinal DegenerationRetinitis PigmentosaBest DiseaseLate-Onset Retinal Degeneration (L-ORD)Age-Related Macular Degeneration (AMD)Natural HistoryAge-Related Macular Degeneration

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

Background: \- 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, saliva, urine, 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, saliva, urine, and/or blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD. Eligibility: * Individuals affected with ocular condition is one year of age or older. * Individuals affected with Best disease, L-ORD, or AMD is 18 years of age or older. * Unaffected individuals are seven years of age or older. Design: * The study requires one visit to the National Eye Institute. * Participants will be screened with a medical and eye disease history. They may also have an eye exam. * Participants will provide a hair sample, saliva sample, urine sample, blood sample, and/or 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.

Official Title

Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls

Quick Facts

Study Start:2011-09-07
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01432847

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Day to 120 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity.
  2. 2. Participant meets one of the following criteria:
  3. 1. Participant has been diagnosed with an ocular condition of interest including but not limited to: degenerative retinal diseases, optic atrophy, microphthalmia/anophthalmia, ciliopathy, and other ocular developmental or degenerative conditions.
  4. 2. Participant is free of eye diseases and could serve as an unaffected control. Participant's age, sex, and ethnicity must match an existing participant with one of the eye diseases under study. Control participants matched to AMD participants must not have drusen greater than 63 microns in size.
  5. 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. Healthy, unaffected children will only have one skin punch biopsy done 3mm or less in size. In affected participants, an additional punch may be gathered if the initial sample does not contain adequate cells. This will be taken from children ages seven years and older. Sampling of ten occipital hairs and/or saliva may be pursued at the investigator's discretion. Participants not able to provide a skin biopsy or blood sample may opt to provide 100-200 ml of fresh urine. As a rule, samples will be collected on non-sedated/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.
  6. 4. Participant meets one of the following criteria:
  7. 1. Participant affected with an ocular condition is one year of age or older.
  8. 2. Participant affected with Best disease, L-ORD, or AMD is 18 years of age or older.
  9. 3. Unaffected participant is seven years of age or older and willing and able to provide assent.
  1. 1. Participant is unable to comply with study procedures.
  2. 2. 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.
  3. 1. Participant must be greater than 18 years of age, as of the date of enrollment. There is no upper age limit for donor enrollment.
  4. 2. Participant is able to provide a punch skin biopsy and 200 ml of peripheral venous blood.
  5. 3. Participant is willing and eligible to co-enroll in NEI protocol 15-EI-0128.
  6. 1. Participant has medical history that includes any of the following:
  7. 1. Thrombocytopenia or other blood dyscrasias
  8. 2. Bleeding diathesis
  9. 3. Antibiotic use within the prior 48 hours
  10. 4. Active cancer or history of cancer within the past five years
  11. 5. History of exposure to transfusion transmitted diseases including HIV and hepatitis B and C as defined by the Standards for Blood
  12. 6. Travel to an area where malaria is endemic as defined by the CDC (www.cdc.gov/travel)
  13. 7. At risk for the possible transmission of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) as described in the FDA Guidance for Industry, January 9, 2002, "Revised Preventive Measures to Reduce the Possible Risk of Transfusion of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) by Blood and Blood Products"
  14. 2. Participant is currently febrile (temperature \> 38 degrees C)
  15. 3. Participant has Hemoglobin level:
  16. * African American women \<11.5 grams/dL
  17. * Other women \< 12.0 grams/dL
  18. * Men \<12.5 grams/dL
  19. 4. Participant has low hematocrit (HCT):
  20. * African American women \< 34%
  21. * Other women \<36%
  22. * Men \<38%
  23. 5. Participant has Platelets \<150 x 103/microL
  24. 6. Participant has Absolute neutrophil count \<1.0 x 103/microL.
  25. 7. Participant has positive tests for blood borne pathogens (as required by the Standards for Blood Banks and Transfusion Services, American Association of Blood Banks. The currently required tests include anti-HIV1/2, anti-HCV, anti-HBc, Anti-HTLV I/II, anti-T. Cruzi, HBsAg, syphilis, and molecular testing for West Nile virus, HCV, HBV, and HIV-1).

Contacts and Locations

Study Contact

Nancy Chen
CONTACT
(240) 551-7020
nancy.chen@nih.gov
Bin Guan, Ph.D.
CONTACT
(301) 594-0029
bin.guan@nih.gov

Principal Investigator

Bin Guan, Ph.D.
PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Eye Institute (NEI)

  • Bin Guan, Ph.D., PRINCIPAL_INVESTIGATOR, National Eye Institute (NEI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2011-09-07
Study Completion DateN/A

Study Record Updates

Study Start Date2011-09-07
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

  • Best Disease
  • Late-Onset Retinal Degeneration (L-ORD)
  • Age-Related Macular Degeneration (AMD)
  • Natural History
  • Retinal Degeneration
  • Age-Related Macular Degeneration
  • AMD

Additional Relevant MeSH Terms

  • Retinal Disease
  • AMD
  • Retinal Degeneration
  • Retinitis Pigmentosa