Natural Disease Progression in Participants With Choroideremia

A Retrospective Cohort Analysis of the Natural Disease Progression of Patients With Choroideremia in Real-World Clinical Practice

The primary objective of this study is to quantify disease progression measured by best corrected visual acuity (BCVA) in the real-world setting among Choroideremia (CHM) participants. The secondary objectives are to describe demographic and baseline clinical characteristics among CHM participants and to match CHM participants in the Intelligent Research in Sight (IRIS®) Registry to Biogen's investigator sponsored trial (IST) study population using propensity score matching.

Study Overview

• Status: Completed
• Conditions: Choroideremia
• Intervention / Treatment: Other: No Intervention

Detailed Description

This study is a retrospective cohort study of CHM eyes and participants which will include all eligible participants and eyes with the first documented diagnosis of CHM from July 1st, 2013 to December 31st, 2019 that meet the study criteria. This study will be conducted using data from American Academy of Ophthalmology's (AAO) IRIS® Registry which captures CHM participant's demographics, clinical characteristics and clinical outcomes from 2013.

• Study Type: Observational
• Enrollment (Actual): 1178

Contacts and Locations

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94107
      • Research Site

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 10 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Main cohort will include all eligible CHM participants in IRIS registry. Trial-matched cohort will include only male CHM participants from Cohort 1 to match Biogen's IST study population using propensity score matching.

Description

Key Inclusion Criteria:

Cohort 1: All CHM Participants

• Participants with a documented diagnosis of CHM identified by the presence of International Classification of Diseases (ICD)-9/10 or SNOMED coding:

  1. ICD-9: 363.55
  2. ICD-10: H31.2
  3. SNOMED-CT: 75241009

Cohort 2: Trial-Matched CHM Participants

• Male participants with a documented diagnosis of CHM identified by the presence of ICD-9/10 or SNOMED coding:

  1. ICD-9: 363.55
  2. ICD-10: H31.21
  3. SNOMED-CT: 75241009

Key Exclusion Criteria:

• N/A

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cohort 1: Main Cohort; All eligible participants with CHM in IRIS Registry will be included.	Other: No Intervention; Administered as specified in the treatment arm.
Cohort 2: Trial-Matched Cohort; Only male participants with CHM from Cohort 1 to match Biogen's IST study population using propensity score matching will be included.	Other: No Intervention; Administered as specified in the treatment arm.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Percentage of Participants with Progression of Best Corrected Visual Acuity (BCVA) in Relation to Age	Up to 6 years
Percentage of Participants with Progression of BCVA Over Time After the Baseline BCVA	Up to 6 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percentage of Participants with Demographics Described at Baseline	The demographics will include age, sex, race, geographic region and treating provider specialty.	Up to 6 years
Matching Participants with CHM in the IRIS® Registry to Biogen's IST Study Population Using Propensity Score (PS) Matching	A propensity score matching approach will be performed to select eligible male CHM participants from IRIS Registry to match Biogen's IST study population. With the approach, the probability of participating in the IST study given the observed baseline participant characteristics will be estimated for each participant. Propensity score will be estimated using logistic regression and pre-specified baseline covariates including participants demographics and clinical characteristics. The propensity match will be considered adequate if all the variables between the PS-matched CHM cohort and IST study cohort have an absolute value of the standardized mean difference (SMD) in PS-score that is less than 0.1.	Up to 6 years

Collaborators and Investigators

• Sponsor: Biogen

Study record dates

Study Major Dates

• Study Start (Actual): August 26, 2020
• Primary Completion (Actual): May 7, 2021
• Study Completion (Actual): August 10, 2021

Study Registration Dates

• First Submitted: March 9, 2021
• First Submitted That Met QC Criteria: March 9, 2021
• First Posted (Actual): March 12, 2021

Study Record Updates

• Last Update Posted (Actual): September 8, 2021
• Last Update Submitted That Met QC Criteria: September 7, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Keywords: Rare disease; X-linked inherited retinal disorder; Bilateral disease
• Additional Relevant MeSH Terms: Pathologic Processes; Eye Diseases; Disease Attributes; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Uveal Diseases; Eye Diseases, Hereditary; Choroid Diseases; Disease Progression; Choroideremia
• Other Study ID Numbers: US-CHM-11761

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: In accordance with Biogen's Clinical Trial Transparency and Data Sharing Policy on http://clinicalresearch.biogen.com/

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No