All Posts tagged Gene Therapy

Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa

There are no approved drug treatments for autosomal-dominant retinitis pigmentosa.
A study of oral Valproic acid (VPA) does not support the use of VPA in the treatment of autosomal-dominant retinitis pigmentosa.
The lessons learned from a trial of Valproic acid are:

  • Rigorous evaluation of drug treatment for retinitis pigmentosa is necessary.
  • FDA-approved drugs for other uses can have major adverse effects.
  • Patients vary greatly in their rates of progression of retinitis pigmentosa with identical gene mutations.

“Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa”
Lessons Learned from a Trial of Valproic Acid

JAMA Ophthalmol 136:857-858, August 2018
Brian P. Brooks, MD, PhD; Brett Jeffrey, PhD

Full Paper: Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa_08-13-18

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Genetic Testing for Age-Related Macular Degeneration Not Indicated Now

Age-related macular degeneration is a very common condition that is caused by a complex interplay of genetic and environmental factors. It is likely that, in the future, genetic testing will allow physicians to achieve better clinical outcomes by administering specific treatments to patients based on their genotypes. However, improved outcomes for genotyped patients have not yet been demonstrated in a prospective clinical trial, and as a result, the costs and risks of routine genetic testing currently outweigh the benefits for patients with age-related macular degeneration.

Full Paper: Genetic Testing for Age-Related Macular Degeneration Not Indicated Now
(197K PDF)


Gene Therapy for Choroideremia

Robert E. MacLaren from Oxford, England has published an article in The Lancet, January 2014, describing the results of six patients who received gene therapy for choroideremia.

The initial results of the retinal gene therapy showed improved rod and cone function. In all patients over six months, there was an increase in retinal sensitivity in the treated eyes that correlated with the vector dose of the gene therapy.

The study assessed the effects of an adeno-associated virus (AAV) vector encoding REP1 (AAV.REP1) in patients with choroideremia. Choroideremia is an x-linked recessive disease that causes blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).

The findings warrant further assessment of gene therapy in choroideremia, age-related macular degeneration, retinitis pigmentosa, and Stargardt’s disease.