Choroideremia Gene Therapy Clinical Trial - Full Text View

Purpose

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
Choroideremia	Biological: Injection of AAV2-REP1 (10e11 vg)	Phase 2


Study Type:	Interventional
Study Design:	Intervention Model: Single Group Assignment Masking: No masking 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:

Genetics Home Reference related topics: choroideremia

MedlinePlus related topics: Genes and Gene Therapy

Genetic and Rare Diseases Information Center resources: Choroideremia Uveal Diseases

U.S. FDA Resources

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.	Biological: 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.

Eligibility


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

Criteria

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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02553135

Locations


United States, Florida
Bascom Palmer Eye Institute, University of Miami
Miami, Florida, United States, 33136

Sponsors and Collaborators

Byron Lam

Investigators


Principal Investigator:	BYRON LAM, MD	UNIVERSITY OF MIAMI, BASCOM PALMER EYE INSTITUTE

More Information


Responsible Party:	Byron Lam, Professor of Ophthalmology, University of Miami
ClinicalTrials.gov Identifier:	NCT02553135 History of Changes
Other Study ID Numbers:	20150371
Study First Received:	June 17, 2015
Last Updated:	April 26, 2017

Keywords provided by University of Miami:


choroideremia, gene therapy

Additional relevant MeSH terms:


Choroideremia Eye Diseases, Hereditary Eye Diseases Choroid Diseases	Uveal Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on May 23, 2017