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Last update 23 Jan 2025

Stargardt Disease 4

Last update 23 Jan 2025

Basic Info

Synonyms

STARGARDT DISEASE 4, STGD4, Stargardt disease 4

+ [3]

Introduction-

Drugs associated with Stargardt Disease 4

Human retinal pigment epithelial cell therapy (Astellas Pharma)

Target-

Mechanism

Cell replacements

Active Org.

Cha Bio&Diostech Co. Ltd.

Originator Org.

Advanced Cell Technology & Engineering Ltd.

Active Indication

Inactive Indication

Myopia, Degenerative [+1]

Drug Highest PhasePhase 1/2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

REV-0100

Target

Lipid

Mechanism

Lipid modulators

Active Org.

ReVision Therapeutics, Inc. [+2]

Originator Org.

Cornell University

Active Indication

Eye Diseases [+1]

Inactive Indication-

Drug Highest PhasePhase 1

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

AAV-based ABCA4 gene therapy (Biogen)

Target-

Mechanism

Gene transference

Active Org.

Biogen, Inc.

Originator Org.

Oxford University Innovation Ltd.

Active Indication

Stargardt Disease 4

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Stargardt Disease 4

NCT04281732

/ Unknown statusNot ApplicableIIT

Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision

Purpose:
To validate a newly developed battery of performance-based tests of visual function to be presented using virtual reality. The tests are intended as potential outcome measures for clinical trials of treatments of eye disease: they measure visual performance in patients with low vision on visual tasks that a relevant for daily life.

Start Date01 Oct 2018

Sponsor / Collaborator

Queen's University

[+1]

NCT02410122

/ CompletedNot ApplicableIIT

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a PROM1- Related Macular Dystrophy

While a fair amount of clinical data on Stargardt disease type 1 (STGD1) have been published, very little is known about Stargardt disease type 4 (STGD4). The ProgStar 04 study is an important opportunity to leverage the infrastructure, clinical trials sites, methods, and central reading center of the ProgStar program to investigate the progression of STGD4 and will help to establish patient cohorts worldwide for future clinical trials.

Start Date01 Dec 2014

Sponsor / Collaborator

The Johns Hopkins University

100 Clinical Results associated with Stargardt Disease 4

100 Translational Medicine associated with Stargardt Disease 4

0 Patents (Medical) associated with Stargardt Disease 4

Literatures (Medical) associated with Stargardt Disease 4

03 Apr 2023·Investigative ophthalmology & visual science

Insights Into PROM1-Macular Disease Using Multimodal Imaging.

Article

Author: Paavo, Maarjaliis ; Parmann, Rait ; Sparrow, Janet R ; Tsang, Stephen H ; Lee, Winston ; Zernant, Jana ; Allikmets, Rando ; Lima de Carvalho, Jose Ronaldo

PurposeTo describe the features of genetically confirmed PROM1-macular dystrophy in multimodal images.MethodsThirty-six (36) eyes of 18 patients (5-66 years; mean age, 42.4 years) were prospectively studied by clinical examination and multimodal imaging. Short-wavelength autofluorescence (SW-AF) and quantitative fundus autofluorescence (qAF) images were acquired with a scanning laser ophthalmoscope (HRA+OCT, Heidelberg Engineering) modified by insertion of an internal autofluorescent reference. Further clinical testing included near-infrared autofluorescence (NIR-AF; HRA2, Heidelberg Engineering) with semiquantitative analysis, spectral domain-optical coherence tomography (HRA+OCT) and full-field electroretinography. All patients were genetically confirmed by exome sequencing.ResultsAll 18 patients presented with varying degrees of maculopathy. One family with individuals affected across two generations exhibited granular fleck-like deposits across the posterior pole. Areas of granular deposition in SW-AF and NIR-AF corresponded to intermittent loss of the ellipsoid zone, whereas discrete regions of hypoautofluorescence corresponded with a loss of outer retinal layers in spectral-domain optical coherence tomography scans. For 18 of the 20 eyes, qAF levels within the macula were within the 95% confidence intervals of healthy age-matched individuals; nor was the mean NIR-AF signal increased relative to healthy eyes.ConclusionsAlthough PROM1-macular dystrophy (Stargardt disease 4) can exhibit phenotypic overlap with recessive Stargardt disease, significantly increased SW-AF levels were not detected. As such, elevated bisretinoid lipofuscin may not be a feature of the pathophysiology of PROM1 disease. The qAF approach could serve as a method of early differential diagnosis and may help to identify appropriate disease targets as therapeutics become available to treat inherited retinal disease.

01 Dec 2019·Molecular Case Studies

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

Article

Author: Maumenee, Irene H ; Ragi, Sara D ; Park, Karen Sophia ; Mahajan, Vinit B ; Lima de Carvalho, Jose Ronaldo ; Tsang, Stephen H ; Tanaka, Akemi J

The PROM1 (prominin 1) gene encodes an 865-amino acid glycoprotein that is expressed in retinoblastoma cell lines and in the adult retina. The protein is localized to photoreceptor outer segment disc membranes, where it plays a structural role, and in the retinal pigment epithelium (RPE), where it acts as a cytosolic protein that mediates autophagy. Mutations in PROM1 are typically associated with cone-rod dystrophy 12 (OMIM#3612657), autosomal dominant retinal macular dystrophy 2 (OMIM#608051), autosomal recessive retinitis pigmentosa 41 (OMIM#612095), and Stargardt disease 4 (OMIM#603786). Here we describe the first case of PROM1-associated Leber congenital amaurosis (LCA) in a 12-yr-old Asian male, caused by two not previously described deleterious frameshift variants in the compound heterozygous state. Clinical features include the presence of bull's eye maculopathy, pendular horizontal nystagmus, and photodysphoria consistent with the clinical diagnosis of LCA. The patient was evaluated using ophthalmic imaging, electroretinography, and whole-exome sequencing. Electroretinography revealed extinguished retinal activity.

02 Jan 2018·Oncotarget

Genetic identification and molecular modeling characterization reveal a novelPROM1mutation in Stargardt4-like macular dystrophy

Article

Author: Shasaltaneh, Marzieh Dehghan ; Zhang, Xianqin ; Imani, Saber ; Fu, Shangyi ; Yang, Lisha ; Khan, Md. Asaduzzaman ; Cheng, Jingliang ; Zhang, Dianzheng ; Chen, Rui ; Duan, Chengxia ; Wei, Chunli ; Chen, Hanchun ; Lv, Hongbin ; Li, Yumei ; Zou, Hui ; Fu, Junjiang

Stargardt disease-4 (STGD4) is an autosomal dominant complex, genetically heterogeneous macular degeneration/dystrophy (MD) disorder. In this paper, we used targeted next generation sequencing and multiple molecular dynamics analyses to identify and characterize a disease-causing genetic variant in four generations of a Chinese family with STGD4-like MD. We found a novel heterozygous missense mutation, c.734T>C (p.L245P) in the PROM1 gene. Structurally, this mutation most likely impairs PROM1 protein stability, flexibility, and amino acid interaction network after changing the amino acid residue Leucine into Proline in the basic helix-loop-helix leucine zipper domain. Molecular dynamic simulation and principal component analysis provide compelling evidence that this PROM1 mutation contributes to disease causativeness or susceptibility variants in patients with STGD4-like MD. Thus, this finding defines new approaches in genetic characterization, accurate diagnosis, and prevention of STGD4-like MD.

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