Natural History of the Progression of Choroideremia Study

NCT03359551 | Completed

• 2 other identifiers: 273CH001NSR-CHM-OS1
• Study Type: observational
• Target: 319
• Locations: 9 countries
• Sites: 20

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.

Conditions

Choroideremia

Keywords

REP1; Retina; Retinal Degeneration; Retinal Dystrophy; Natural History

Outcome Measures

Primary Outcomes (1)

• Change in Best-Corrected Visual Acuity (BCVA) using the Early Treatment Diabetic Retinopathy Study (EDTRS)

  BCVA will be assessed for both eyes using the Early Treatment of Diabetic Retinopathy Study (ETDRS) visual acuity (VA) chart. BCVA test should be performed prior to pupil dilation, and distance refraction should be carried out before BCVA is measured. Initially, letters are read at a distance of 4 meters from the chart. If \<20 letters are read at 4 meters, testing at 1 meter should be performed. BCVA is to be reported as number of letters read correctly by the participant using the ETDRS Scale (ranging from 0 to 100 letters) in the study eye. The lower the number of letters read correctly on the eye chart, the worse the vision (or visual acuity). An increase in the number of letters read correctly means that vision has improved.

  Up to Month 20

Secondary Outcomes (7)

• Change from Baseline in Reading Performance using International Reading Speed Texts (IReST)

  Baseline up to Month 12

• Change from Baseline in Color Vision

  Baseline up to Month 12

• Change from Baseline in Visual Fields

  Baseline up to Month 12

• Change from Baseline in Contrast Sensitivity

  Baseline up to Month 12

• Change from Baseline in Retinal Thinning Using Spectral Domain Optical Coherence Tomography (SD-OCT)

  Baseline up to Month 20

Eligibility Criteria

• Age: 18 Years+
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• NightstaRx Ltd, a Biogen Company: lead

Study Sites (20)

Research Site

Los Angeles, California, 90095, United States

Location

Research Site

Miami, Florida, 33136, United States

Location

Research Site

Baltimore, Maryland, 21287, United States

Location

Research Site

New York, New York, 10032, United States

Location

Research Site

Portland, Oregon, 97232, United States

Location

Research Site

Dallas, Texas, 75231, United States

Location

Research Site

Madison, Wisconsin, 53705, United States

Location

Research Site

São Paulo, 04552-050, Brazil

Location

Research Site

Edmonton, Alberta, Canada

Location

Research Site

Montreal, H3A 0E7, Canada

Location

Research Site

Vancouver, V5Z 3N9, Canada

Location

Research Site

Glostrup Municipality, Denmark

Location

Research Site

Helsinki, 00290, Finland

Location

Research Site

Montpellier, 74103, France

Location

Research Site

Bonn, 53127, Germany

Location

Research Site

Tübingen, Germany

Location

Research Site

Nijmegen, Netherlands

Location

Research Site

London, EC1V 2PD, United Kingdom

Location

Research Site

Manchester, M13 9WL, United Kingdom

Location

Research Site

Oxford, OX3 9DU, United Kingdom

Location

Related Publications (1)

• 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.

  PMID: 28499705 BACKGROUND

MeSH Terms

Conditions

Choroideremia; Retinal Degeneration; Retinal Dystrophies

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Choroid Diseases; Uveal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Retinal Diseases

Study Officials

• Medical Director

  Biogen

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 24, 2017
• First Posted: December 2, 2017
• Study Start: June 30, 2015
• Primary Completion: October 1, 2020
• Study Completion: October 1, 2020
• Last Updated: February 10, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will share

Locations

CA (3); BR (1); GB (3); US (7); DE (2); NL (1); FR (1); FI (1); DK (1)