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Choroideremia Gene Therapy Clinical Trial

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Byron Lam, University of Miami Identifier:
First received: June 17, 2015
Last updated: April 6, 2016
Last verified: April 2016
Phase II gene therapy study, involving a total of 6 male patients with choroideremia. The study will be conducted at the Bascom Palmer Eye Institute, University of Miami. Patients will be required to attend a total of 11 study visits over a 24 month period with an additional 3 year follow-up.

Condition Intervention Phase
Genetic: Injection of AAV2-REP1 (10e11 vg)
Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)

Resource links provided by NLM:

Further study details as provided by University of Miami:

Primary Outcome Measures:
  • Change in best corrected visual acuity from baseline [ Time Frame: 24 Months ]
    ETDRS visual acuity chart

Secondary Outcome Measures:
  • Change in retinal macular autofluorescence from baseline [ Time Frame: 24 months ]
    Macular autofluorescence

  • Changes in microperimetry from baseline [ Time Frame: 24 months ]
    Macular microperimetry

  • Number of participants who experience an adverse event [ Time Frame: 24 months ]
    Adverse events during treatment and follow-up period

Enrollment: 6
Study Start Date: September 2015
Estimated Study Completion Date: February 2021
Estimated Primary Completion Date: February 2018 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Injection of AAV2-REP1
Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.
Genetic: Injection of AAV2-REP1 (10e11 vg)
Single Group: single arm study

Detailed Description:
This is a Phase II, open label study involving patients with a clinical phenotype of choroideremia and a confirmed CHM genotype. Following consent, patients will be required to attend an initial screening visit (Visit 1). Within 2 weeks of the screening visit patients will undergo a surgical procedure (Visit 2) under general anesthesia which will include a standard vitrectomy, retinal detachment and administration of a subretinal injection of AAV2-REP1 (1x1011 genome particles). Patients will be required to attend a further 9 study visits (Visits 3-11) over a 24 month period for functional, and anatomical assessments as well as monitoring of adverse events. The primary endpoint is the change from baseline in visual acuity in the study eye, compared to control eye. Secondary study endpoints are, change from baseline in autofluorescence evaluation, microperimetry readings and other anatomic and functional outcomes (all in the study eye compared to control eye). Secondary endpoints also include safety assessments to be conducted throughout the study. The fellow eyes of these patients will be utilized as controls in this study and will receive no study treatment.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • 18 Years and older
  • Male
  • Able to give informed consent
  • Genetically confirmed diagnosis of choroideremia
  • Active disease visible clinically within the macula region
  • Best-corrected visual acuity equal to or worse than 20/32 but better than or equal to 20/200 in the study eye.

Exclusion Criteria:

  • Female
  • Under the age of 18
  • History of amblyopia in the study eye
  • Men unwilling to use barrier contraception methods
  • Relevant grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control
  • Any other significant ocular and non-ocular disease/disorder or retinal surgery
  • Contraindication to use of medications or contrast agents
  • Participated in research study involving an investigational product in the past 12 weeks
  • Having had gene or cellular therapy at any time prior to this study.
  Contacts and Locations
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Please refer to this study by its identifier: NCT02553135

United States, Florida
Bascom Palmer Eye Institute, University of Miami
Miami, Florida, United States, 33136
Sponsors and Collaborators
Byron Lam
  More Information

Responsible Party: Byron Lam, Professor of Ophthalmology, University of Miami Identifier: NCT02553135     History of Changes
Other Study ID Numbers: 20150371
Study First Received: June 17, 2015
Last Updated: April 6, 2016

Keywords provided by University of Miami:
choroideremia, gene therapy

Additional relevant MeSH terms:
Eye Diseases, Hereditary
Eye Diseases
Choroid Diseases
Uveal Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked processed this record on April 21, 2017