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Twelve People Receive XLRS Gene Therapy in AGTC’s Clinical Trial

Applied Genetics Technology Corporation (AGTC) reported that its gene therapy for X-linked retinoschisis (XLRS) has performed encouragingly in a Phase I/II, safety-oriented clinical trial taking place at seven sites in the U.S.

XLRS is an inherited disease that leads to significant vision loss due to splitting of the layers of the retina. The condition affects about 35,000 males in the U.S. and Europe. XLRS is caused by mutations in the gene retinoschisin. AGTC’s gene therapy uses a human-engineered virus — and adeno-associated virus or AAV — to deliver normal copies of retinoschisin to the patient’s retina.

Twelve patients have received the treatment thus far. Initial safety was reported for those patients receiving low- and medium-treatment doses. According to Michael Goldstein, the study director at AGTC, the XLRS gene therapy was generally well-tolerated and demonstrated a good safety profile.

Mark Pennesi, MD, PhD, a study investigator at Oregon Health & Science University, said that a majority of the patients had mild to moderate ocular inflammation in their treated eyes that resolved without further intervention or with steroids. Additional patients being treated in the study with a high dose are receiving steroids to prevent or treat inflammation.

The Foundation Fighting Blindness funded earlier research that made the XLRS gene therapy clinical trial possible.

16 Responses to 'Twelve People Receive XLRS Gene Therapy in AGTC’s Clinical Trial'

  1. Cecilia says:

    This sounds so hopeful. I have three grandsons with XLRS and I am the carrier who passed it on unknowingly. I had no idea. Is this gene therapy to correct the gene to prevent them passing it on or is it to preserve the sight of the XLRS patient.

  2. SOL KESHEK says:


  3. Lois Westerby says:

    Hello I have been following the studies and research in the autoimmune retinopathy. I have suffered with this for 12 years. I am interested in trying to help with this vision loss. I live in Canada in the province of British Columbia. I would like some information of what types of help I can receive in thisrare eye diseases . Any help would be so appreciated . Thank you for taking tim to read my letter. Lois westerbyt

  4. Scott says:

    Thank you for the info. How is the treatment given and is it a one time treatment. Have any patients children? I have a son that’s 8 with this. Thx

    • EyeOnTheCure says:

      Hi Scott,

      The treatment is a one-time injection into the vitreous (soft gel in middle of the eye). However, the trial is only for those who are 18 or older. Stay tuned.

  5. Hasarin Fareeth says:

    I have 2 sons (one @4 and another @7) with XLRS. I have been following AGTC’s gene therapy clinical trials. It was mentioned that the estimated primary study completion as October 2018. Is this still on track? Is the enrollment for the study closed now?

  6. Athar hassan says:

    Where can I get my daughter tested for genetic testing?

  7. tyler earnest says:

    i have XLRS and i’ve know for about 15 years now i went in every 6 months to get tested if i was suitable for the treatment and because i got bored of it i stoppped….i should of kept going in for test to be eligible for the injection because having XLRS sucks my vision is starting to deteriorate and i’m about to turn 18 i would do anything to find a cure for this because it has effected me so much.

  8. Hopeless says:

    My doctor told me that I wouldn’t be a good candidate for the trial. Is there a chance that gene therapy would benefit me in any way, or is there no hope for me even if my retinoschisis is advanced?

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