Choroideremia clinical programs

Biogen Safe Harbor Statement This news release contains forward-looking statements, including statements made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of , relating to the potential clinical effects and safety of timrepigene emparvovec; results from the Phase 3 study of timrepigene emparvovec; the clinical development program for timrepigene emparvovec; the potential treatment of inherited retinal diseases including choroideremia; and risks and uncertainties associated with drug development and commercialization.

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Results in early-stage clinical trials may not be indicative of full results or results from later stage or larger scale clinical trials and do not ensure regulatory approval. You should not place undue reliance on these statements or the scientific data presented. These statements involve risks and uncertainties that could cause actual results to differ materially from those reflected in such statements, including without limitation, uncertainty of success in the development of timrepigene emparvovec; unexpected concerns may arise from additional data, analysis or results obtained during clinical trials, including the STAR study; the occurrence of adverse safety events; the risks of other unexpected hurdles, costs or delays; failure to protect and enforce our data, intellectual property and other proprietary rights and uncertainties relating to intellectual property claims and challenges; product liability claims; and the direct and indirect impacts of the ongoing COVID pandemic on our business, results of operations and financial condition.

Over 6 months, the increase in retinal sensitivity in the treated eyes correlated with the vector dose administered per mm 2 of surviving retina in all eyes. Interestingly, one patient in whom the vector was not administered to the fovea re-established variable eccentric fixation that included the ectopic island of remaining RPE that had been exposed to vector.

With the era of subretinal gene therapy on the horizon, there are noted challenges with regards to patient selection and surgical technique. In addition to confirmation of the gene mutation, surgeons can also include an assessment of retinal structure and selection of a target zone for treatment. The anatomical features of disease progression are relevant to gene therapy approaches because the volume of tissue to be targeted is continually shrinking and the multiplicity of infection of viral particles per cell will vary at different stages of the disease.

Other challenges include an unpredictable expansion of the bleb area, variable response of the retinal tissue and variable adhesion in different IRDs, and the challenge of avoided excess retinal stretch and reflux of the vector into the vitreous. At the time of this article, little has been published on techniques for subretinal gene injection and outcomes. Here is a global list of clinical trials into the treatment of choroideremia through viral vectors:. Retinal prosthesis devices have been implanted in patients with IRDs.

This consists of an epiretinal stimulating array that is implanted in the retina and transmits signals to the visual cortex.

In a nonsense-mediated zebrafish model of choroideremia , use of these small-moecule drugs lead to an increase in REP1 protein. Lutein has been investigated as a supplement to reduce the progression of atrophy and vision loss in choroideremia.

Lutein is a carotenoid that is present in high concentrations in the macula. It works as a filter protecting the macula from blue light and functions as a free radical scavenger and antioxidant. Frank macular edema is not a typical feature of choroideremia, but its development may result in a sudden decline in central visual acuity. The pathogenic etiology of macular edema in patients with retinal dystrophies remains poorly understood.

It may be treated with topical dorzolamide, which was demonstrated to be effective in a small study. Surgeons may be appropriately concerned about performing cataract surgery in patients with choroideremia. Patients are placed at risk of phototoxicity from microscope illumination as well as at risk of postoperative pseudophakic macular edema. Few studies have been performed looking at outcomes of cataract surgery in this patient population. One study, a case series of 6 patients, demonstrated an improvement in visual acuity with cataract surgery without the development of postoperative macular edema.

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Original article contributed by :. All contributors:. Karth, MD. Assigned editor:. ICD - ICD - 9. Photographer: Toni Venckus. Permissions obtained from executive director and editor of Eyerounds. Gene therapy for choroideremia using an adeno-associated viral AAV vector. Cold Spring Harbor perspectives in medicine. Choroideremia; clinical and genetic aspects. The British journal of ophthalmology. Cloning of the breakpoints of a deletion associated with choroidermia.

Human genetics. Cloning and characterization of the human choroideremia gene. Human molecular genetics. Promising first steps in gene therapy for choroideremia.

Human gene therapy. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science New York, N. Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. Lancet London, England. Clinical and Genetic Features of Choroideremia in Childhood.

Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nature genetics. A clinical and genetic study of 84 Finnish patients and female carriers. Acta ophthalmologica. Choroideremia: new findings from ocular pathology and review of recent literature. Survey of ophthalmology. The call took place on October 30, Oct 2, Press Releases. The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States.

Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter. May 9, Press Releases. Jul 19, Press Releases. Jun 8, Press Releases. The Foundation Fighting Blindness the Foundation and CheckedUp have formed a collaborative partnership to deliver patient-friendly diagnostic and disease-management information to people with retinal diseases such as age-related macular degeneration, retinitis pigmentosa, and Stargardt disease during their visits to eye doctors.

Feb 7, Science Education. Jun 17, Science Education. Eye Bonds provide the opportunity to advance, and accelerate development for, more promising treatments into and through clinical trials and out to the people who need them. The French bioelectronics company Pixium Vision has reported that its PRIMA bionic vision system has restored some central vision in patients with advanced dry age-related macular degeneration AMD participating in a clinical feasibility trial.

Since genetic researchers, many funded by the Foundation, have identified approximately genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss. On September 4, , seven researchers, including six previously funded by the Foundation, were recognized with the prestigious Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.

Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration. ARVO Dr. Nightstar Therapeutics, a retinal-disease, gene-therapy development company in the UK, is advancing its emerging gene therapy for choroideremia into a Phase 3 clinical trial known as STAR.

If a clinic is charging for a stem-cell treatment or procedure for an IRD, it is probably not legit. The expense to the patient is a major red flag.

An advisory committee comprised of FDA-selected experts voted unanimously — 16 to 0 — to recommend approval. In addition to funding promising biotech start-ups, the Foundation Fighting Blindness has played a critical role in developing research talent. The high-tech, vision-restoring system interfaces with the visual cortex, the back of the brain where visual input is processed to create the images we see. The partnership will help companies and researchers quickly obtain and implement high-quality vectors for their retinal gene-therapy development efforts.

Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades. Understanding the pathways of the retinal neural network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.

The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging. Both approaches show strong, near-term potential for providing meaningful vision to people who are otherwise blind from retinal diseases such as retinitis pigmentosa and age-related macular degeneration AMD.

Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials. Aditya A. Expert Opin. Chan S. Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia.

Tolmachova T. Anand V. Gene therapy for choroideremia: In vitro rescue mediated by recombinant adenovirus. Duong T. Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment.

Stem Cell Res. Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo. Moher D. PLoS Med. Fischer M. Changes in retinal sensitivity after gene therapy in choroideremia. MacLaren R. Aleman T. Brooks S. Edwards T. JAMA Ophthalmol. Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.

Ocular gene therapy for choroideremia: Clinical trials and future perspectives. Expert Rev. Thompson D. Shen L. Long-term natural history of visual acuity in eyes with choroideremia: A systematic review and meta-analysis of data from individual eyes.

Technique of retinal gene therapy: Delivery of viral vector into the subretinal space. Maguire A. Russell S. Mitchell A. Gene Ther. Way C. Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies. Torriano S. Richardson R. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders. Eye Res. Guerin K. Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Bushby K. Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Muscle Nerve. Gonzalez-Hilarion S. Rescue of nonsense mutations by amlexanox in human cells. Orphanet J. Rare Dis. Gotham V. Synthesis and activity of a novel inhibitor of nonsense-mediated mRNA decay. Sarkar H. Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.

Mandai M. Phase 1 clinical study of an embryonic stem cell—derived retinal pigment epithelium patch in age-related macular degeneration. Rayapudi S. Vitamin A and fish oils for retinitis pigmentosa. Cochrane Database Syst. Macular Pigment and Lutein Supplementation in Choroideremia. Masuda T. Punzo C. Vlachantoni D. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration. Donato L. GLO1 gene polymorphisms and their association with retinitis pigmentosa: A case—control study in a Sicilian population.

Zrenner E. Fighting Blindness with Microelectronics. Wang V. Optoelectronic Devices for Vision Restoration.

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Data not available. Air bubble in balanced salt solution BSS injection system during surgery. Suture-related conjunctival inflammation.