Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)

Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)


Lead Sponsor: MeiraGTx UK II Ltd

Source MeiraGTx UK II Ltd
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.

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.

Overall Status Recruiting
Start Date December 19, 2017
Completion Date December 30, 2022
Primary Completion Date December 30, 2022
Study Type Observational
Primary Outcome
Measure Time Frame
Analysis of retinal structure and function to assess disease progression 6 years
Secondary Outcome
Measure Time Frame
Retinal Sensitivity 6 years
Retinal Structural detailed phenotyping 6 years
Fundus Autofluorescence 6 years
Visual Fields testing 6 years
Enrollment 55

Sampling Method: Non-Probability Sample


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

Gender: Male

Minimum Age: 5 Years

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
Michel Michaelides, Prof Principal Investigator UCL/Moorfields
Overall Contact

Last Name: MeiraGTx UK II Ltd

Phone: +44 (0) 20 3866 4320

Email: [email protected]

Facility: Status: Contact: Investigator:
Massachusetts Eye and Ear Infirmary | Boston, Massachusetts, 02114, United States Recruiting Iris Wen 617-573-3780 [email protected] Racheal Huckfeldt, Dr Principal Investigator
Kellogg Eye Center | Ann Arbor, Michigan, 48105, United States Recruiting Adrienne Chen 734-232-9167 [email protected] Thiran Jayasundera Principal Investigator
Location Countries

United States

Verification Date

January 2020

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Patient Data Undecided
Study Design Info

Observational Model: Other

Time Perspective: Prospective