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


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.

Full Title of Study: “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”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Treatment
    • Masking: None (Open Label)
  • Study Primary Completion Date: August 2014


  • Genetic: Recombinant Adeno-Associated Virus
    • Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus

Arms, Groups and Cohorts

  • Experimental: Recombinant Adeno-Associated Virus

Clinical Trial Outcome Measures

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

Secondary Measures

  • Visual Outcome
    • Time Frame: 12 yrs
    • Visual function: ETDRS visual acuity measurement. Full-field Stimulation Threshold (FST).

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 14 Years

Maximum Age: 70 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Fowzan Alkuraya
  • Collaborator
    • King Khaled Eye Specialist Hospital
  • Provider of Information About this Clinical Study
    • Sponsor-Investigator: Fowzan Alkuraya, Head, Developmental Genetics Unit – King Khaled Eye Specialist Hospital
  • Overall Official(s)
    • Fowzan S Alkuraya, MD, Principal Investigator, King Faisal Specialist Hospital & Research Center
  • Overall Contact(s)
    • Fowzan S Alkuraya, MD, +966 1 442 7875,

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