|
|
![]() |
![]() |
![]() |
![]() |
|
![]() |
|
![]() |
|
![]() |
![]() |
![]() |
|
![]() |
||||||||||||||||||||||||||||||||||||
| Sponsored by: |
National Eye Institute (NEI) |
| Information provided by: | National Institutes of Health Clinical Center (CC) |
| ClinicalTrials.gov Identifier: | NCT00231010 |
Purpose
This multinational study will investigate the inheritance of genetic retinal degeneration in families of different nationalities and ethnic backgrounds in order to identify the genes that, when altered, cause retinal degeneration. The retina is a light-sensitive membrane lining the back part of the eye. It relays vision signals to the brain, which the brain interprets into sight. When the retina degenerates, vision is altered and possibly lost. The findings of this study should help improve diagnosis and methods of treatment for these disorders. Participating institutions include: the National Institutes for Health in Bethesda, Maryland; the University of Miami in Florida; the Casey Eye Institute in Portland, Oregon; the Byrd Health Sciences Center in Morgantown, West Virginia; the University of Texas Southwestern Medical School in Dallas, Texas; the University of Tennessee Health Sciences Center in Memphis; the Prasad Eye Institute in Hyderabad, India; National Center of Excellence in Molecular Biology in Lahore, Pakistan; and the Jules Gonin Hospital in Lausanne, Switzerland.
Patients with retinitis pigmentosa and closely related diseases such as Usher syndrome, snowflake vitreoretinal dystrophy and Bietti crystalline dystrophy may be eligible for this study. Participants undergo the following tests and procedures:
| Condition |
|
Retinal Degeneration Retinitis Pigmentosa |
| Genetics Home Reference related topics: | Lenz microphthalmia syndrome oculofaciocardiodental syndrome Peters plus syndrome Usher syndrome X-linked juvenile retinoschisis |
| MedlinePlus related topics: | Usher Syndrome |
| ChemIDplus related topics: | Tretinoin |
| Study Type: | Observational |
| Official Title: | Molecular Genetics of Retinal Degenerations |
| Estimated Enrollment: | 2000 |
| Study Start Date: | September 2005 |
This project, Molecular Genetics of Retinal Degenerations will study the inheritance of genetic retinal degenerations, both Mendelian and complex, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause retinal degenerations and the pathophysiology through which they act. The number of subjects to be enrolled has no logical upper limit, but will be at least 250. The study consists of ascertaining individuals, and especially families with multiple individuals, affected by retinal degenerations including retinitis pigmentosa (RP) and also other closely related retinal degenerations such as Usher syndrome (USH) and Bietti crystalline dystrophy (BCD). These patients and their families will undergo detailed ophthalmological examinations and, where indicated, additional non-investigational examinations to characterize their retinal degeneration and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with retinal degenerations in this family. If necessary, the gene product will be characterized biochemically. The principle investigator is James Fielding Hejtmancik at the OMGS/OGVFB/NEI. Associate investigators at the OGVFB/NEI include Dr. Raphael Caruso, and Dr. Benjamin Rubin. Associate investigators at collaborating institutions include Dr. Xuezhong Liu (University of Miami), Dr. Richard Welleber (University of Oregon), Dr. Monique Leys (West Virginia University), Dr. Chitra Kannabiran (L.. V. Prasad Eye Institute, Hyderabad, India), Dr. S. Riazuddin (Centre for Excellence in Molecular Biology, Lahore, Pakistan), Dr. Francis Muniere (Jules Gonin Eye Hospital, Lusanne, Switzerland), Dr. Albert Edwards (UT Southwestern Med. Ctr), and Dr. Allesandro Iannaccone (U Tenn Health Sci Ctr).
Eligibility
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Patients that meet diagnostic criteria for specific retinal degenerations will be recruited from the NEI and collaborating clinics.
In addition, this protocol will include patients with other retinal degenerations, including retinitis pigmentosa and Bietti crystalline dystrophy, which have been excluded from the Gyrate atrophy protocol EI 78-001, in which they were formerly included.
Contacts and Locations| Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
| Contact: TTY | 1-866-411-1010 |
| United States, Maryland | |||||
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting | ||||
| Bethesda, Maryland, United States, 20892 | |||||
| United States, Massachusetts | |||||
| Harvard Medical School | Recruiting | ||||
| Boston, Massachusetts, United States, 02115 | |||||
| United States, Oregon | |||||
| Casey Eye Institute | Recruiting | ||||
| Portland, Oregon, United States | |||||
| United States, Texas | |||||
| UT Southwestern Medical School | Recruiting | ||||
| Dallas, Texas, United States | |||||
| Pakistan | |||||
| University of Punjabv | Recruiting | ||||
| Lahore, Pakistan | |||||
More Information
NIH Clinical Center Detailed Web Page 
  |
| Study ID Numbers: | 050143, 05-EI-0143 |
| First Received: | September 30, 2005 |
| Last Updated: | July 18, 2008 |
| ClinicalTrials.gov Identifier: | NCT00231010 |
| Health Authority: | United States: Federal Government |
|
|
|
|