Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
Study Details
Study Description
Brief Summary
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.
Condition or Disease | Intervention/Treatment | Phase |
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Detailed Description
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.
Study Design
Outcome Measures
Primary Outcome Measures
- Analysis of retinal structure and function to assess disease progression [6 years]
Retinal structure will be measured using Adaptive optics and SD-OCT and Fundal autofluorescence.
Secondary Outcome Measures
- Retinal Sensitivity [6 years]
To be assessed by Microperimetry
- Retinal Structural detailed phenotyping [6 years]
Retinal Structure measured by Adaptive Optics (
- Fundus Autofluorescence [6 years]
Presence or Absence
- Visual Fields testing [6 years]
Assessment of Visual Fields with analysis of hill vision by perimetry
Eligibility Criteria
Criteria
Inclusion Criteria:
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Males & Females aged 5 years or older
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Have RPGR-associated retinal dystrophy
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Are able to give informed consent or assent, with the guidance of their parent/guardian where appropriate
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Are able to undertake age-appropriate clinical assessments as specified in the protocol
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Have genetic mutation within the RPGR gene confirmed by an accredited lab or research lab.
Exclusion Criteria:
- Are unable or unwilling to undertake consent or clinical testing
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Shiley Eye Institute - UCSD | La Jolla | California | United States | 92093 |
2 | Stanford University, Spencer Center for Vision Research | Stanford | California | United States | 94303 |
3 | Emory Eye Centre | Atlanta | Georgia | United States | 30322 |
4 | Massachusetts Eye and Ear Infirmary | Boston | Massachusetts | United States | 02114 |
5 | Kellogg Eye Center | Ann Arbor | Michigan | United States | 48105 |
6 | UPMC Eye Centre | Pittsburgh | Pennsylvania | United States | 15213 |
7 | The Hospital for Sick Children | Toronto | Canada | M5G 0A4 | |
8 | Moorfields Eye Hospital | London | United Kingdom | EC1V 2PD |
Sponsors and Collaborators
- MeiraGTx UK II Ltd
- Janssen, LP
Investigators
- Principal Investigator: Michel Michaelides, Prof, UCL/Moorfields
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- MGT011