Clinical trial NCT04926129: Natural History of the Progression of X-Linked Retinitis Pigmentosa
Official title: Natural History of the Progression of X-Linked Retinitis Pigmentosa
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: X-Linked Retinitis Pigmentosa
Keywords: RP GTPase regulator (RPGR)
Degenerative retinal disease
XLRP
Natural history
Rare disease
Lead sponsor: Biogen
Sponsor class: INDUSTRY
First posted: 2021-06-14
Enrollment: 201
Sex: ALL
Minimum age (years): 7
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 201 participants with X-linked Retinitis Pigmentosa (XLRP).

Brief summary: The objective of the study is to gain a better understanding of disease progression over time in participants with X-linked retinitis pigmentosa (XLRP).

Detailed description: This study was previously posted by NightstaRx Ltd. In October, 2020, sponsorship of the trial was transferred to Biogen.

Eligibility criteria: Key Inclusion Criteria:

1. Have documentation of a pathogenic mutation in the retinitis pigmentosa GTPase regulator (RPGR) gene.
2. Are willing and able to undergo ophthalmic examinations, as required by protocol, for up to 24 months
3. Have an ETDRS BCVA in at least 1 eye of ≥34 letters (Equivalent to Snellen ≥ 6/60 or 20/200; decimal 0.1; LogMAR 1.0).
4. Mean retinal sensitivity in the eligible eye as assessed by microperimetry:

   * Males with a mean retinal sensitivity of 68 loci ranging from ≥0.1 decibels (dB) and ≤20 dB.
   * Females with a mean retinal sensitivity of 68 loci ranging from ≥0.1 dB and ≤25 dB.
5. If female, have symptomatic disease with impairment of visual function.

Key Exclusion Criteria:

1. Have a history of amblyopia in the eligible eye.
2. Have any other significant ocular or non-ocular disease/disorder which, in the opinion of the investigator, may put the participant at risk because of participation in the study, may influence the results of the study, may influence the participant's ability to perform study diagnostic tests, or impact the participant's ability to participate in the study. This includes clinically significant cataracts.
3. Have participated in another research study involving an investigational medicinal product in the past 12 weeks or received a gene/cell-based therapy at any time previously (including but not limited to Intelligent Implant System implantation, ciliary neurotrophic factor therapy, nerve growth factor therapy).

NOTE: Other protocol defined Inclusion/Exclusion criteria may apply

Primary outcomes:
measure: Change from Baseline in Early Treatment Diabetic Retinopathy Study (ETDRS) Best-corrected Visual Acuity (BCVA)
timeFrame: Up to Month 24
measure: Change from Baseline in Retinal Sensitivity Assessed with Microperimetry
timeFrame: Up to Month 24
Secondary outcomes:
measure: Change from Baseline in Contrast Sensitivity
timeFrame: Up to Month 24
measure: Change from Baseline in Low Luminance Visual Acuity (LLVA)
timeFrame: Up to Month 24
measure: Change from Baseline in 25-item Visual Function Questionnaire (VFQ-25) Score
timeFrame: Up to Month 24
measure: Change from Baseline in Retinitis Pigmentosa (RP)-Specific Patient-Reported Outcome (PRO) Questionnaire
timeFrame: Up to Month 24
measure: Change from Baseline in EuroQol-5 Dimension 5-level (EQ-5D-5L)
timeFrame: Up to Month 24
measure: Change from Baseline in Health Utilities Index Mark 3 (HUI3)
timeFrame: Up to Month 24
measure: Change from Baseline in Visual Field Readings
timeFrame: Up to Month 24
measure: Change from Baseline in Microperimetry Readings
timeFrame: Up to Month 24
measure: Change from Baseline in Multi-Luminance Mobility Test (MLMT) Readings
timeFrame: Up to Month 24
measure: Change from Baseline in Spectral Domain Optical Coherence Tomography (SD-OCT)
timeFrame: Up Month 24
measure: Change from Baseline in Fundus Autofluorescence (FAF)
timeFrame: Up to Month 24
measure: Change from Baseline in Fundus Photography
timeFrame: Up to Month 24
measure: Change from Baseline in Adaptive-Optics Scanning Laser Ophthalmoscopy (AO-SLO)
timeFrame: Up to Month 24
measure: Change from Baseline in Intraocular Pressure as Assessed by Goldmann Applanation Tonometry
timeFrame: Up to Month 24
measure: Change from Baseline in Morphology of Eye as Assessed by Slit-lamp Examination
timeFrame: Up to Month 24
measure: Change from Baseline in Morphology of Eye as Assessed by Dilated Ophthalmoscopy
timeFrame: Up to Month 24
measure: Change from Baseline in Morphology of Eye as Assessed by Lens Opacities Classification System (LOCS) III Lens Grading
timeFrame: Up to Month 24
Other outcomes:
Locations:
city: Phoenix
country: United States
facility: Research Site
state: Arizona
city: Los Angeles
country: United States
facility: Research Site
state: California
city: San Francisco
country: United States
facility: Research Site
state: California
city: Miami
country: United States
facility: Research Site
state: Florida
city: New York
country: United States
facility: Research Site
state: New York
city: Portland
country: United States
facility: Research Site
state: Oregon
city: Dallas
country: United States
facility: Research Site
state: Texas
city: Houston
country: United States
facility: Research Site
state: Texas
city: Salt Lake City
country: United States
facility: Research Site
state: Utah
city: Madison
country: United States
facility: Research Site
state: Wisconsin
city: Montréal
country: Canada
facility: Research Site
state: Quebec
city: Vancouver
country: Canada
facility: Research Site
city: Helsinki
country: Finland
facility: Research Site
city: Montpellier
country: France
facility: Research Site
city: Bonn
country: Germany
facility: Research Site
city: Tübingen
country: Germany
facility: Research Site
city: Leiden
country: Netherlands
facility: Research Site
city: Nijmegen
country: Netherlands
facility: Research Site
city: Leeds
country: United Kingdom
facility: Research Site
city: Manchester
country: United Kingdom
facility: Research Site
city: Oxford
country: United Kingdom
facility: Research Site
city: Southampton
country: United Kingdom
facility: Research Site
Study officials:
affiliation: Biogen
name: Medical Director
role: STUDY_DIRECTOR
References: