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Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2011 by King Khaled Eye Specialist Hospital
King Khaled Eye Specialist Hospital
King Faisal Specialist Hospital & Research Center
Information provided by (Responsible Party):
Fowzan Alkuraya, King Khaled Eye Specialist Hospital Identifier:
First received: September 28, 2011
Last updated: November 29, 2011
Last verified: November 2011
A recombinant adeno-associated virus serotype 2 (rAAV2) vector has been altered to carry the human MERTK (hMERTK) gene. This vector has been shown to restore vision in animal models that resemble human MERTK-associated Retinitis Pigmentosa (RP), an incurable retinal degeneration that causes severe vision loss. The proposed study is an open label, Phase I clinical trial of subretinal rAAV2-VMD2-hMERTK administration to individuals with MERTK-associated retinal disease. This trial will lead to a greater understanding of the safety and thereby potential value of gene transfer in MERTK-associated retinal disease and will have implications for other forms of retinal degenerative disease amenable to this type of intervention.

Condition Intervention Phase
Retinal Disease
Genetic: Recombinant Adeno-Associated Virus
Phase 1

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations

Resource links provided by NLM:

Further study details as provided by King Khaled Eye Specialist Hospital:

Primary Outcome Measures:
  • Ocular and Systemic safety of uniocular subretinal administration of rAAV2-VMD2-hMERTK in individuals with MERTK-associated retinal disease [ Time Frame: 12 yrs ]

    1.Ocular safety:

    • Keratitis.
    • Glaucoma.
    • Cataract.
    • Uveitis.
    • Vitreous hemorrhage.
    • Retinal detachment.

      2.Systemic Safety:

    • Organs systemic toxicity.
    • Viral Signs:

      1. Antibody titers to AAV capsid components and Antigen-specific Reactivity (ASR) Measurement.
      2. Peripheral Blood PCR.

Secondary Outcome Measures:
  • Visual Outcome [ Time Frame: 12 yrs ]

    Visual function:

    1. ETDRS visual acuity measurement.
    2. Full-field Stimulation Threshold (FST).

Estimated Enrollment: 6
Study Start Date: August 2011
Estimated Study Completion Date: August 2023
Estimated Primary Completion Date: August 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Recombinant Adeno-Associated Virus Genetic: Recombinant Adeno-Associated Virus
Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus


Ages Eligible for Study:   14 Years to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • MERTK-associated retinal disease;
  • VA: 20/100 or less in worse eye
  • Ability to perform tests of visual and retinal function;
  • Good general health based on a complete physical examination and hematology and chemistry studies performed at a pre-treatment evaluation;
  • Ability to comply with research procedures;

Exclusion Criteria:

  • Pre-existing eye conditions that would preclude the planned surgery or interfere with the interpretation of study endpoints or surgical complications (for example, glaucoma, corneal or lenticular opacities);
  • Complicating systemic diseases (such as medical conditions causing immunosuppression) that would preclude the gene transfer, ocular surgery or known sensitivity or allergy to medications planned for use in the peri-operative period;
  • Use of anti-platelet agents that may alter coagulation within 7 days prior to study agent administration;
  • Use of immunosuppressive medications;
  • Pregnancy or breastfeeding;
  • Individuals (males and females) of childbearing potential who are unwilling to use effective contraception for 1 year following agent administration and barrier contraception for 3 months following agent administration;
  • Any other condition that would prevent a subject from completing follow-up examinations during the course of the study and that, in the opinion of the investigator, makes the subject unsuitable for the study.
  • Current, or recent (within the past 30 days, or 10 half lives of the drug) participation, in any other research protocol involving investigational agents or therapies.
  • Recent (within past 6 months) receipt of an investigational biologic therapeutic agent.Subjects will not be excluded based on their gender, race or ethnicity.
  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 identifier: NCT01482195

Contact: Fowzan S Alkuraya, MD +966 1 442 7875

Saudi Arabia
King Khaled Eye Specialist Hospital Recruiting
Riyadh, Saudi Arabia, 11462
Contact: Deepak Edward, MD    96614821234 ext 1362   
Principal Investigator: Emad Abboud, MD         
Sponsors and Collaborators
Fowzan Alkuraya
King Khaled Eye Specialist Hospital
King Faisal Specialist Hospital & Research Center
Principal Investigator: Fowzan S Alkuraya, MD King Faisal Specialist Hospital & Research Center
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Fowzan Alkuraya, Head, Developmental Genetics Unit, King Khaled Eye Specialist Hospital Identifier: NCT01482195     History of Changes
Other Study ID Numbers: 0916-P
Study First Received: September 28, 2011
Last Updated: November 29, 2011

Keywords provided by King Khaled Eye Specialist Hospital:
Retinal Disease

Additional relevant MeSH terms:
Retinal Diseases
Eye Diseases processed this record on May 23, 2017