ArticleInternational journal of molecular sciences2023
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04980638 (A Prospective, Open-label, Genotype-match Controlled, Multicenter Clinical Trial to Investigate the Efficacy and Safety of Intra-amniotic ER004 as a Prenatal Treatment for Male Subjects With XLHED), which is not on this map. Cited by 19 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.
A Prospective, Open-label, Genotype-match Controlled, Multicenter Clinical Trial to Investigate the Efficacy and Safety of Intra-amniotic ER004 as a Prenatal Treatment for Male Subjects With XLHED
Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Experimental dermatology · 2026Article
- A growth-adjusted digital prosthetic protocol for a child with X-linked hypohidrotic ectodermal dysplasia: a 5-year longitudinal clinical report.BMC oral health · 2026Article
- Article
- Proteoform medicine: characterizing and targeting protein forms in human disease.Nature reviews. Genetics · 2026Review
- X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab.Acta dermato-venereologica · 2026Article
- Case Report: Novel pathogenic variant in autosomal recessiveFrontiers in genetics · 2026Article
- How much sweating is enough? Predicting thermoregulatory capacity in patients with ectodermal dysplasia based on a minimal pilocarpine-induced sweat volume.Frontiers in pediatrics · 2026Article
- Case Report: Fatal pneumonia as a manifestation of X-linked hypohidrotic ectodermal dysplasia: clinical phenotype and genotype characterization of a novelFrontiers in pediatrics · 2026Article
- The emergence of the ectodysplasin pathway.Open life sciences · 2026Article
- Article
- In utero therapy for spinal muscular atrophy: closer to clinical translation.Brain : a journal of neurology · 2025Review
- Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus.Orphanet journal of rare diseases · 2025Article
- Protein isoform-centric therapeutics: expanding targets and increasing specificity.Nature reviews. Drug discovery · 2024Review
- Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.Orphanet journal of rare diseases · 2024Article
- Embryo and fetal gene editing: Technical challenges and progress toward clinical applications.Molecular therapy. Methods & clinical development · 2024Review
- Improving the Quality of Life in Patients With Hypohidrotic Ectodermal Dysplasia: A Holistic Approach.Cureus · 2024Article
- Bridging the gap between omics research and dental practice.BDJ open · 2024Review
- State-of-the-Art Molecular Genetics and Genomics in Germany.International journal of molecular sciences · 2023Article
- Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth. The absence of sweat glands and perspiration can evoke life-threatening hyperthermia. As molecular genetic findings are not always conclusive, the concentrations of circulating EDA1 may help to distinguish between total and partial EDA1 deficiencies. We previously treated nine male patients with obvious signs of XLHED with a recombinant EDA1 replacement protein, Fc-EDA, either shortly after birth (
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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.