Clinical Trial: Cell Collection to Study Eye Diseases

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief Summary:

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, 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.

Detailed Summary:

This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for the following potentially blinding eye diseases: Best Vitelliform Dystrophy (Best Disease); Late-Onset Retinal Degeneration (L-ORD); Age-Related Macular Degeneration (AMD); Leber congenital amaurosis (LCA); Joubert syndrome; X-linked retinitis pigmentosa (RP); oculocutaneous albinism,Stargardt s with ABCA4 gene mutations; Waardenburg syndrome, coloboma, Enhanced S-Cone syndrome (ESCS), Spinocerebellar Ataxia, Type 7 (SCA7) and eye diseases associated with MITF, PAX2, or PAX6 gene mutations. Skin fibroblasts, hair keratinocytes, and/or blood cells may be collected from participants with retinal diseases and from age, gender and ethnicity-matched healthy participants.

Although research involving multiple different ocular cell types from these patients may be performed, the vast majority of the work will be centered on the retinal pigment epithelium (RPE) and neural retina. RPE and/or neural retinal cells generated from the iPS cells of participants with retinal diseases and healthy volunteers will be used to analyze molecular mechanisms involved in disease initiation and progression. In addition, the iPS cell-derived ocular cells will be used to perform high throughput (HTP) drug screens aimed at suppressing the molecular phenotypes of the disease and to identify potential therapeutic agents for these diseases.

Objectives: The primary objective of this study is to generate participant-iPS cells that can be differentiated into ocular cell types, to be used to study the molecular mechanisms of and to develop treatments for Best disease, L-ORD, AMD, LCA, Joubert syndrome, X-linked RP, OCA, Startgardt s disease, Waardenburg syndrome, coloboma, ESCS, SCA7 and eye disease
Sponsor: National Eye Institute (NEI)

Current Primary Outcome: Creation of iPS cells from at least 1 type of somatic tissue collected from participants, differentiation of iPS cells into RPE and/or neural retinal The creation of iPS cells from at least one type of somatic tissue collected from participants. [ Time Frame: Ongoing ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Institutes of Health Clinical Center (CC)

Dates:
Date Received: September 10, 2011
Date Started: August 26, 2011
Date Completion:
Last Updated: May 18, 2017
Last Verified: May 15, 2017