Stargardt disease is an inherited disorder of the retina (light processing tissue lining the inside of your eye). The macula, an essential region in your retina, is especially vulnerable.

Stargardt disease affects people slowly, gradually decreasing central vision over time. They should protect their eyes by wearing sunglasses in direct sunlight and avoid taking excessive vitamin A supplements.

Gene Therapy

Stargardt disease (STGD1, commonly referred to as Fundus Flavimaculatus) is an inherited retinal condition caused by mutations of ABCA4 gene mutations that lead to progressive loss of central vision over time, typically starting as early as childhood or adolescence and progressing until irreversible vision loss by age 40 or 50 for most individuals affected.

Diseased retinas result in degeneration of retinal pigment epithelium cells that absorb light entering the eye. As a result, lipofuscin accumulates on photoreceptors and interferes with light transmission into macula; ultimately leading to macular atrophy in central areas and loss of central visual acuity and color vision in individuals affected.

Although AMD is incurable, numerous treatment options are being explored to slow vision loss and enhance quality of life for patients. One such therapy is gene therapy, which seeks to restore vision by replacing or manipulating defective genes; gene therapy has already been used successfully against several blinding diseases including age-related macular degeneration and retinitis pigmentosa.

Multiple trials are currently taking place to investigate the efficacy of gene therapy as a potential treatment for stargardt disease. AAV9 and AAV8 vectors are being utilized to deliver unmutated versions of ABCA4 gene, which have shown partial restoration in small clinical trials; however, their high cost makes this option prohibitive to most patients.

Ascidian Therapeutics recently received FDA clearance and Fast Track designation for ACDN-01, an RNA exon editing approach. They will initiate their Phase 1/2 STELLAR study to treat Stargardt disease and other ABCA4 retinopathies beginning 2024.

Gene therapy may not be the only solution available to stargardt disease sufferers; alternative approaches include visual cycle modulators fenretinide and ICR-14967 as well as transplanting human embryonic stem cell-derived retinal pigment epithelium into affected patients. Furthermore, recent case reports from Nature indicate that low dose echothiophate may improve BCVA and color vision for stargardt patients.

Stem Cell Therapy

Stem cell therapies offer another potential solution to restore vision for those living with Stargardt disease. Stem cells are special cells found throughout our bodies with the potential to differentiate into various kinds of tissue, such as retinal pigmented epithelium. Scientists have discovered that injecting stem cells directly into an eye may slow or even reverse progression.

Stem cell therapy’s purpose is to replace or support retinal pigmented epithelium cells that have died, replacing or supporting them through stem cell transplants from autologous bone marrow donors. According to one study, scientists observed that many Stargardt disease patients improved their visual acuity after receiving autologous bone marrow stem cell transplants from self-donors – many even being able to stabilise their vision over an entire year period!

Bone marrow is a unique type of blood that contains both stromal cells and white blood cells to support and nourish healthy tissues, including stem cells that can help restore normal retinal structure as well as protect it from further damage. Stem cell transplantation has also been used in treating other ocular conditions, including age-related macular degeneration, optic nerve ataxia, and retinitis pigmentosa.

Embryonic stem cells, or cells derived from early-stage embryos, possess the unique capability of differentiating into all cell types found within an organism. Adult stem cells tend to be less versatile; however, they still possess regeneration and replacement capacities in order to repair damaged cells in your body.

Stargardt disease can now be effectively treated using induced pluripotent stem cells (iPSCs), normal adult cells that have been genetically reprogrammed into progenitor cells that can differentiate into various tissues and then transplanted back into patients’ eyes to support or replace retinal pigmented epithelium.

Acucela Inc and Lin Bioscience have collaborated on creating an antidiarrheal drug called Emixustat that is currently undergoing clinical trials to treat Stargardt disease, having received orphan drug designation from the FDA. Other small-sized companies are working to find solutions, although mishaps at stem cell clinics has highlighted the need for regulatory oversight in this emerging field.

Photobiomodulation

Photobiomodulation uses low-level laser light to stimulate stem cells, stimulating them to repair themselves while decreasing inflammation and increasing antioxidant production. Photobiomodulation helps repair cell tissue injuries faster while decreasing chronic pain associated with them; also speeds healing, reduces risks of future injuries or surgeries and has even been used as treatment for TBI (traumatic brain injury).

Stargardt’s disease is a hereditary, autosomal recessive condition resulting in central vision loss and color perception impairment. It is caused by mutations to the ABCA4 gene which leads to accumulation of lipofuscin in retinal pigment epithelium cells causing progressive macular degeneration and eventual blindness.

Studies conducted on Stargardt’s patients demonstrated some improvement or stabilization following autologous bone marrow stem cell transplantation, as it improves RPE cells function and may even reverse some damage caused by genetic mutation in ABCA4 gene that contributes to this condition.

The study was conducted on 34 Stargardt’s patients who underwent one or more bone marrow stem cell transplantations procedures. Its results demonstrated that most of them either improved or stabilized their vision; approximately half reached 20/100 or better visual acuity, although one who went from counting fingers to 20/50+2 still experienced improvements despite not regaining her pre-treatment visual acuity – an encouraging sign.

This study’s results are encouraging for future Stargardt’s disease research and potential treatments. There are multiple companies exploring approaches that target the ABCA4 gene to prevent progressive macular degeneration; Ascidian Therapeutics’ ACDN-01 RNA exon editing drug has demonstrated promise in early clinical studies of patients with Stargardt disease and other ABCA4 retinopathies; Ascidian anticipates enrolling patients into its Phase 1/2 STELLAR study by 2024 – it would become the first-ever therapy targeting genetic causes of progressive incurable progressive progressive incurable progressive incurable disease!

Other Treatments

Stargardt disease (also referred to as Fundus Flavimaculatus or Atrophic Macular Dystrophy) is the most frequently inherited form of macular degeneration. A progressive condition typically beginning in childhood or adolescence, it gradually leads to central vision loss due to damage done to cone receptor cells within the macula that release cone photoreceptors; eventually this results in a black hole appearing and diminishing one’s ability to perceive colors correctly and see clearly.

Stargardt disease is caused by mutations to the ABCA4 gene that provides instructions for producing an essential protein component of visual cycle function. Sequence variants cause lipofuscin accumulation in retinal pigment epithelial cells and ultimately blindness. Studies are underway aiming at inhibiting this cytotoxic accumulation without hindering visual cycle functionality in order to slow or stop disease process progression.

Cholinergic stimulation occurs at retinal synapses and is controlled by the enzyme acetylcholinesterase. Echothiophate iodide is a compound that blocks this action of this enzyme, thus increasing endogenous levels of acetylcholine and improving visual function.

Stargardt disease patients experienced rapid and sustained improvements in both best corrected visual acuity and color vision following the administration of this compound, currently under clinical trials.

Treatment options available to Stargardt disease patients may include specially designed glasses that can help minimize blind spots by decreasing their size, as well as electronic devices like video magnifiers and screen readers that increase text size on computers, tablets, and phones. Patients also benefit from receiving regular ophthalmologic evaluations in order to track their progress.

Sunlight protection is an integral component of treating Stargardt disease, along with maintaining a nutritious diet and taking vitamin supplements recommended by an ophthalmologist. When spending time outside in sunlight, using protective eyewear like wide-brimmed hats and sunglasses will help shield eyes from UV rays that could otherwise harm retinal tissues.