Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
| Status: | Recruiting |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | 5 - Any |
| Updated: | 2/2/2018 |
| Start Date: | December 19, 2017 |
| End Date: | December 30, 2022 |
| Contact: | Anna Morka, MSc |
| Email: | ocularinfo@meiragtx.com |
| Phone: | +44 (0) 20 3866 4320 |
The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically
and genetically heterogeneous group of disorders in which there is progressive loss of rod
and later cone photoreceptor function leading to severe visual impairment. RP usually occurs
as an isolated retinal disorder, but it may also be seen in association with systemic
abnormalities.
and genetically heterogeneous group of disorders in which there is progressive loss of rod
and later cone photoreceptor function leading to severe visual impairment. RP usually occurs
as an isolated retinal disorder, but it may also be seen in association with systemic
abnormalities.
X-linked Retinitis Pigmentosa (XLRP) is a severe form of RP with early onset of nyctalopia
and progression to legal blindness by the 3rd to 4th decade. Most affected males show
symptomatic night blindness before the age of 10 years, are often myopic and show fundus
abnormalities and ERG changes in early childhood. Examination of close female relatives is
helpful in the absence of a family history, as the recognition of the XL carrier state will
confirm the diagnosis.
and progression to legal blindness by the 3rd to 4th decade. Most affected males show
symptomatic night blindness before the age of 10 years, are often myopic and show fundus
abnormalities and ERG changes in early childhood. Examination of close female relatives is
helpful in the absence of a family history, as the recognition of the XL carrier state will
confirm the diagnosis.
Inclusion Criteria:
- Males aged 5 years or older
- Have RPGR-associated retinal dystrophy
- Are able to give informed consent or assent, with the guidance of their
parent/guardian where appropriate
- Are able to undertake age-appropriate clinical assessments as specified in the
protocol
Exclusion Criteria:
- Are unable or unwilling to undertake consent or clinical testing
We found this trial at
2
sites
243 Charles St
Boston, Massachusetts 02114
Boston, Massachusetts 02114
(617) 523-7900
Principal Investigator: Racheal Huckfeldt, Dr
Phone: 617-391-5950
Massachusetts Eye & Ear Infirmary Whether you see our physicians at Mass. Eye and Ear's...
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Ann Arbor, Michigan 48105
Principal Investigator: Thiran Jayasundera
Phone: 734-232-9167
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