ArticleExpert opinion on orphan drugs2016
Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.
Article in Expert opinion on orphan drugs, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05443685 (An Open-Label, Phase 1/2, Single-Site Study of the Safety, Biochemical Efficacy, and Exploratory Clinical Effects of Oral ADX-629 in Subjects With Sjögren-Larsson Syndrome), which is not on this map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
An Open-Label, Phase 1/2, Single-Site Study of the Safety, Biochemical Efficacy, and Exploratory Clinical Effects of Oral ADX-629 in Subjects With Sjögren-Larsson Syndrome
Who cites it
18 citing papers in PubMed, 35 citations in OpenAlex.
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report.Clinical, cosmetic and investigational dermatology · 2026Article
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.Metabolites · 2023Article
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- New developments in the molecular treatment of ichthyosis: review of the literature.Orphanet journal of rare diseases · 2022Review
- Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents.Molecular genetics and metabolism reports · 2022Article
- A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.Journal of child neurology · 2021Article
- Endogenous aldehyde accumulation generates genotoxicity and exhaled biomarkers in esophageal adenocarcinoma.Nature communications · 2021Article
- Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.Paediatric anaesthesia · 2020Article
- Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.Journal of inherited metabolic disease · 2020Article
- Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.Molecular genetics & genomic medicine · 2020Article
- Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.Ophthalmic genetics · 2020Article
- Sjogren-Larsson Syndrome: Mechanisms and Management.The application of clinical genetics · 2020Review
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
- Deleterious mutations inNPJ genomic medicine · 2019Article
- 1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.Molecular genetics and metabolismArticle
- Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.Congenital anomaliesArticle
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
introductionSjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive retinopathy. It is caused by inactivating mutations in AREAS COVERED: The clinical, pathologic and genetic features of SLS are summarized. The biochemical abnormalities caused by deficient activity of FALDH are reviewed in the context of proposed pathogenic mechanisms and potential therapeutic interventions. EXPERT OPINION: The most promising pharmacologic approach to SLS involves blocking the formation of potentially harmful fatty aldehyde adducts using aldehyde scavenging drugs, currently in phase 2 clinical trials. Other approaches needing further investigation include: 1) ALDH-specific activator drugs and PPAR-α agonists to increase mutant FALDH activity; 2) inhibitors of the JNK phosphorylation cascade; 3) antioxidants to decrease aldehyde load; 4) dietary lipid modification; and 5) gene therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.