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Stargardt Disease

Stargardt disease is the most common inherited single-gene retinal disease

Prevalence

1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of Onset

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ICD-10

H35.5

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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Rare View

Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner.

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5 Facts you should know

FACT

1

A genetic eye disorder that causes progressive vision loss

FACT

2

Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula

FACT

3

The main symptom is loss of visual acuity, uncorrectable with glasses

FACT

4

People with Stargardt disease also have problems with night vision, and some have problems with color vision

FACT

5

It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner

Stargardt Disease is also known as...

Stargardt Disease

Stargardt macular dystrophy; Juvenile onset macular degeneration, fundus flavimaculatus

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When are the symptoms of Stargardt disease most commonly seen?

Common signs & symptoms

Reduced visual acuity

Decreased clarity of vision

Abnormal choroid morphology

Abnormal foveal morphology

Abnormality of macular pigmentation

Abnormality of visual evoked potentials

Central scotoma

Central blind spot

Current treatments

At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA).[6] You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.[6]

Top Clinical Trials

TitleDescriptionPhasesStatusInterventionsMore Information
Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)The purpose of this open-label, multicenter study is to determine the long-term safety, pharmacokinetics and effects of ALK-001 (C20-D3-retinyl acetate) on the progression of Stargardt disease. This study is an extension of NCT02402660 and enrolls participants who are at least 8 years old. Enrollment is by invitation only.Phase 2Enrolling by invitationDrug: ALK-001Click here for more information
Safety and Efficacy of Emixustat in Stargardt DiseaseThe purpose of this study is to determine if emixustat hydrochloride reduces the rate of progression of macular atrophy compared to placebo in subjects with Stargardt disease.Phase 3Active, not recruitingDrug: Emixustat|Drug: PlaceboClick here for more information
Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1)To evaluate the safety and efficacy of Zimura™ (complement factor C5 inhibitor) compared to Sham in subjects with autosomal recessive Stargardt disease 1 (STGD1).Phase 2RecruitingDrug: Zimura|Other: ShamClick here for more information
Phase 2 Tolerability and Effects of ALK-001 on Stargardt DiseaseThe purpose of this study is to determine the long term safety and tolerability of ALK-001 (C20-D3-retinyl acetate), and to explore the effects of ALK-001 on the progression of Stargardt disease in patients between the ages of 8 and 70 years old.Phase 2RecruitingDrug: ALK-001|Drug: PlaceboClick here for more information

Top Treatments in Research

AgentClass/Mechanism of ActionDevelopment StatusCompanyClinical StudiesMore Information
STG-001STG-001 slows down accumulation of toxic retinoids in the eye. The visual cycle is fueled by uptake of retinol from circulation, which is transported by Retinol Binding Protein 4 (RBP4), a key protein that binds Vitamin A (retinol) in the systemic circulation and delivers it to the eye.
STG-001 is an indirect visual cycle modulator and by reducing plasma concentrations of RBP4 slows down the visual cycle and accumulation of cytotoxic retinoids in the eye.
Phase 2Stargazer Pharmaceuticals, Inc.Click here for more informationClick here for more information
EmixustatEmixustat modulates the visual cycle by inhibiting a critical enzyme of this pathway, Retinal pigment epithelium-specific 65 kDa protein (RPE65). Slowing the visual cycle reduces the availability of vitamin A derivatives (11-cis- and all-trans-retinal) to form precursors of A2E and related compounds. In animal models of Stargardt disease and retinal degeneration, emixustat was found to decrease the accumulation of A2E and to protect the retina from light-induced damage.Phase 3Kubota Vision Inc.Click here for more informationClick here for more information
ZimuraZimura is an investigational complement C5 inhibitor that is designed to decrease the activation of inflammasomes and the formation of membrane attack complex (MAC). The Company believes Zimura could treat geographic atrophy secondary to dry AMD by preventing or slowing the degeneration of retinal pigment epithelial cells.Phase 2IVERIC bio, Inc.Click here for more informationClick here for more information
ALK-001ALK-001 is vitamin A modified by replacing hydrogen with deuterium, a stable, non-radioactive isotope of hydrogen. Substituting vitamin A with ALK-001 safely slows the rate of formation of vitamin A dimers and prevents the disease in mice.Phase 2Alkeus Pharmaceuticals, Inc.Click here for more informationClick here for more information

National Eye Institute