Clinical trial NCT03359551: Natural History of the Progression of Choroideremia Study
Official title: Natural History of the Progression of Choroideremia Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Choroideremia
Keywords: REP1
Retina
Retinal Degeneration
Retinal Dystrophy
Natural History
Lead sponsor: Biogen
Sponsor class: INDUSTRY
First posted: 2017-12-02
Enrollment: 319
Sex: MALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE

Brief summary: The objective of this natural history study is to gain a better understanding of the progression of choroideremia (CHM) and add to the knowledge base for this rare disease.

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:

* Are willing and able to provide informed consent for participation in the study.
* Have a clinical phenotype and confirmed genetic diagnosis of CHM.
* Have active disease clinically visible within the macular region.
* Are willing and able to undergo ophthalmic examinations once every 4 months for up to 20 months.
* Have a BCVA better than or equal to 6/60 (20/200; decimal 0.1; LogMAR 1.0; 34-38 ETDRS letters) in at least one eye.

Key Exclusion Criteria:

* Have a history of amblyopia in the eligible eye.
* Have any other significant ocular or non-ocular disease/disorder in the eligible eye which, in the opinion of the investigator, may put the subject at risk because of participation in the study, influence the results of the study or influence the subject's ability to participate in the study.
* Have participated in an interventional research study in the past 6 months.

NOTE: Other protocol defined Inclusion/Exclusion criteria may apply.

Primary outcomes:
measure: Change in Best-Corrected Visual Acuity (BCVA) using the Early Treatment Diabetic Retinopathy Study (EDTRS)
timeFrame: Up to Month 20
Secondary outcomes:
measure: Change from Baseline in Reading Performance using International Reading Speed Texts (IReST)
timeFrame: Baseline up to Month 12
measure: Change from Baseline in Color Vision
timeFrame: Baseline up to Month 12
measure: Change from Baseline in Visual Fields
timeFrame: Baseline up to Month 12
measure: Change from Baseline in Contrast Sensitivity
timeFrame: Baseline up to Month 12
measure: Change from Baseline in Retinal Thinning Using Spectral Domain Optical Coherence Tomography (SD-OCT)
timeFrame: Baseline up to Month 20
measure: Change from Baseline in Area of Viable Retinal Tissue Using Fundus Autofluorescence
timeFrame: Baseline up to Month 20
measure: Change from Baseline in Retinal Sensitivity Using Microperimetry
timeFrame: Baseline up to Month 20
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Research Site
state: California
city: Miami
country: United States
facility: Research Site
state: Florida
city: Baltimore
country: United States
facility: Research Site
state: Maryland
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: Madison
country: United States
facility: Research Site
state: Wisconsin
city: São Paulo
country: Brazil
facility: Research Site
city: Edmonton
country: Canada
facility: Research Site
state: Alberta
city: Montréal
country: Canada
facility: Research Site
city: Vancouver
country: Canada
facility: Research Site
city: Glostrup
country: Denmark
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: Nijmegen
country: Netherlands
facility: Research Site
city: London
country: United Kingdom
facility: Research Site
city: Manchester
country: United Kingdom
facility: Research Site
city: Oxford
country: United Kingdom
facility: Research Site
Study officials:
affiliation: Biogen
name: Medical Director
role: STUDY_DIRECTOR
References:
citation: Hariri AH, Velaga SB, Girach A, Ip MS, Le PV, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, MacLaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Larsen M, Gorin MB, Webster AR, Sadda SR; Natural History of the Progression of Choroideremia (NIGHT) Study Group. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia. Am J Ophthalmol. 2017 Jul;179:110-117. doi: 10.1016/j.ajo.2017.05.002. Epub 2017 May 10.