A new horizon in Stargardt’s disease: a comprehensive rapid review of interventional therapies

Smruti Besekar; Sangita Jogdand; Akansha Arewar; Suraj Dhankikar; Marvel Bhosle; Diptesh Besekar

doi:10.18203/2319-2003.ijbcp20240390

Authors

Smruti Besekar Department of Pharmacology, Datta Meghe Institute of Higher Education and Research, Wardha, India
Sangita Jogdand Department of Pharmacology, Datta Meghe Institute of Higher Education and Research, Wardha, India
Akansha Arewar Creekside Behavioral Health, Kingsport, Tennessee, United States
Suraj Dhankikar Department of Clinical Education, Rotation and Research and Intake Clinician, Creekside Behavioral Health, Kingsport, Tennessee, United States
Marvel Bhosle Department of Foriensic Sciences, Karunya Institute of Technology and Sciences, Deemed University, Tamil Nadu, India
Diptesh Besekar Department of Mining Laboratory, Moil Limited, Nagpur, Maharashtra, India

DOI:

https://doi.org/10.18203/2319-2003.ijbcp20240390

Keywords:

Stargardt disease, Rapid synthesis, Emuxistat, Docosahexaenoic acid, Saffron, review

Abstract

This rapid synthesis comprised seven studies on inherited macular dystrophy, known as Stargardt disease, which primarily affects children and young adults and is caused by the breakdown of a particular type of light-sensing cell in the eye called ABCA4. One database was selected, and search was carried out using the keywords Stargardt disease and interventional techniques by the application of the appropriate inclusion and exclusion criteria. Most studies were randomized controlled trials, and other systematic reviews and meta-analyses were included, which provided information about the study's methodology and results. The interventional therapies used in this review, including the use of saffron, docosahexaenoic acid, emuxistat hydrochloride, and biofeedback therapy, had a positive effect on Stargardt disease. Therefore, additional studies and syntheses, including controlled trials, case series, adequate sample sizes, and multiple centers, are needed in the future.

Metrics

Metrics Loading ...

References

What Is Stargardt Disease? Available at: https://www.aao.org/eye-health/diseases/what-is stargardt-disease. Accessed on 20 November 2023.

Stargardt Disease Treatment. Available at: https://www.ucsfhealth.org/Conditions/Stargardt Disease/Treatment. Accessed on 20 November 2023.

Tricco AC, Antony J, Zarin W. A scoping review of rapid review methods. BMC Med. 2015;13:224.

An updated guideline for reporting systematic reviews. Available at: https://www.systrevbmj.com/content/ 372/bmj.n71. Accessed on 20 November 2023.

Kubota R, Birch DG, Gregory JK, Koester JM: Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease. Br J Ophthalmol. 2022;106:403-8.

Shen LL, Sun M, Grossetta Nardini HK, Del Priore LV. Natural History of Autosomal Recessive Stargardt Disease in Untreated Eyes: A Systematic Review and Meta-analysis of Study and Individual-Level Data. Ophthalmology. 2019;126:1288-96.

Waugh N, Loveman E, Colquitt J. Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review. NIHR J. 2018.

Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Timing of cognitive decline in CLN3 disease. J Inherit Metab Dis. 2018;41:257-61.

Melillo P, Prinster A, Di Iorio V. Biofeedback Rehabilitation and Visual Cortex Response in Stargardt’s Disease: A Randomized Controlled Trial. Transl Vis Sci Technol. 2020;9:6.

Piccardi M, Fadda A, Martelli F. Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy. Nutrients. 2019;11: E2461.

MacDonald IM, Sieving PA. Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy. Ophthalmic Genet. 2018;39:477-86.

Di Iorio V. Stargardt Disease Guide. Vision Eye Cent. 2022;23:12-9.

Long-term decline of central cone function in retinitis pigmentosa evaluated by focal electroretinogram. Transl Vis Sci Technol. 2022;11:2311-9.

Falsini B, Serrao S, Fadda A, Iarossi G, Porrello G, Cocco F, et al. Focal electroretinograms and fundus appearance in nonexudative age-related macular degeneration. Quantitative relationship between retinal morphology and function. Graefes Arch Clin Exp Ophthalmol. 1999;237:193-200.

Galli-Resta L, Piccardi M, Ziccardi L. Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. Invest Ophthalmol Vis Sci. 2013;54:6560-9.

Contestabile MT, Recupero SM, Palladino D, De Stefanis M, Abdolrahimzadeh S, Suppressa F, et al. A new method of biofeedback in the management of low vision. Eye. 2002;16:472-80.

Vingolo EM, Salvatore S, Cavarretta S: Low-vision rehabilitation by means of MP-1 biofeedback examination in patients with different macular diseases: a pilot study. Appl Psychophysiol Biofeedback. 2009;34:127-33.

Verdina T, Giacomelli G, Sodi A. Biofeedback rehabilitation of eccentric fixation in patients with Stargardt disease. Eur J Ophthalmol. 2013;23:723-31.

Kubota R, Gregory J, Henry S, Mata NL. Pharmacotherapy for metabolic and cellular stress in degenerative retinal diseases. Drug Discov Today. 2020;25:292-304.

Brown KT, Wiesel TN. Localization of origins of electroretinogram components by intraretinal recording in the intact cat eye. J Physiol. 1961;158: 257-80.

Protective Effect of Docosahexaenoic Acid on Oxidative Stress-Induced Apoptosis of Retina Photoreceptors. IOVS. 2022;2:123-8.

Querques G, Benlian P, Chanu B, Leveziel N, Coscas G, Soubrane G, et al. DHA supplementation for late onset Stargardt disease: NAT-3 study. Clin Ophthalmol Auckl NZ. 2010;4:575-80.

Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol. 2003;62:1-13.

Kousi M, Lehesjoki A-E, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012;33:42-63.

Regeneron shares rise as FDA gives green light for Eylea eye disease treatment. Available at: https://www.proactiveinvestors.co.uk/companies/news/81597/regeneron-shares-rise-as-fda-gives-green-light-for-eylea-eye-disease-treatment-21391.html. Accessed on 20 November 2023.

Mole SE. Eylea Injection Treatment of Macular Degeneration. Am Macular Degener Found. 2022.

Stargardt Disease: Diagnosis, Causes & Treatment. Available at: https://my.clevelandclinic.org/health/ diseases/24298-stargardt-disease. Accessed on 20 November 2023.

Weiss JN, Levy S. Stem Cell Ophthalmology Treatment Study (SCOTS): Bone Marrow-Derived Stem Cells in the Treatment of Stargardt Disease. Medicines. 2021;8:10.

Travis GH, Golczak M, Moise AR, Palczewski K. Diseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents. Annu Rev Pharmacol Toxicol. 2007;47:469-512.

Hussain RM, Ciulla TA, Berrocal AM, Gregori NZ, Flynn HW, Lam BL. Stargardt macular dystrophy and evolving therapies. Expert Opin Biol Ther. 2018;18: 1049-59.

Oral therapy for Stargardt disease receives FDA fast track designation. Available at: https://www.healio. com/news/ophthalmology/20220509/oral-therapy-for-stargardt-disease-receives-fda-fast-track-designation. Accessed on 20 November 2023.

Seeking Therapies for Stargardt Macular Dystrophy Retina Today. Available at: https://retinatoday.com/ articles/2019-july-aug/seeking-therapies-for-stargardt-macular-dystrophy. Accessed on 20 November 2023.