Evidence map›Paper›PMID 36672894›Full record

ArticleGenes2023

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.

Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer, Christine Bodemer, Dorothy K Grange, Mary E Norton, Riccardo Cavalli, Gianluca Tadini, Holger Stepan, Angus Clarke and 4 more

Registry-linked trialOpen access · goldAbstract readClinical Trial Protocol
In one paragraph

Article in Genes, 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 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
3.2field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

NCT04980638 phase2recruitingnot on this map

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

TypeinterventionalSponsorEspeRare FoundationRan2022 to 2032Enrolled20ConditionsX-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)ArmsER004
3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 21 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 11 institutions in 7 countries.

Holm SchneiderCenter for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.
Smail Hadj-RabiaDepartment of Dermatology, Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Hopital Universitaire Necker-Enfants Malades, Assistance Publique-Hospitals of Paris, University of Paris-Cité, 75743 Paris, France.
Florian FaschingbauerDepartment of Obstetrics and Gynecology, University Hospital Erlangen, 91054 Erlangen, Germany.
Christine BodemerDepartment of Dermatology, Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Hopital Universitaire Necker-Enfants Malades, Assistance Publique-Hospitals of Paris, University of Paris-Cité, 75743 Paris, France.
Dorothy K GrangeDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University, St. Louis, MO 63110, USA.
Mary E NortonDepartment of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA 94143, USA.
Riccardo CavalliPediatric Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, 20122 Milan, Italy.
Gianluca TadiniPediatric Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, 20122 Milan, Italy.
Holger StepanDepartment of Obstetrics, University Hospital Leipzig, 04103 Leipzig, Germany.
Angus ClarkeInstitute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, CF10 3AT, UK.ORCID 0000-0002-1200-9286
Encarna Guillén-NavarroMedical Genetics Section, Department of Pediatrics, Virgen de la Arrixaca University Hospital, IMIB-Arrixaca, University of Murcia, and CIBERER, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Sigrun Maier-WohlfartCenter for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.
Athmane BouroubiPierre Fabre Médicament, 31100 Toulouse, France.ORCID 0000-0002-6345-4662
Florence PorteEspeRare Foundation, 1202 Geneva, Switzerland.ORCID 0000-0001-6932-5784
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHôpital Necker-Enfants Malades · FRCardiff University · GBEspeRare Foundation · CHInstituto de Salud Carlos III · ESPierre Fabre (France) · FRUniversitätsklinikum Erlangen · DEUniversity Hospital Leipzig · DEUniversity of California, San Francisco · USWashington University in St. Louis · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in serious, sometimes life-threatening complications like hyperthermia or recurrent respiratory infections. It is caused by pathogenic variants of the ectodysplasin A gene (

Indexed as

Ectodermal DysplasiaEctodermal Dysplasia 1, AnhidroticClinical Trials, Phase II as TopicEctodysplasinsFemaleHumansMalePregnancyProspective StudiesSkinEctodysplasinsanhidrosisclinical trialectodermal dysplasiaectodysplasin Afetal therapyprotein replacementsweat glands

Identifiers

PMID36672894
PMCPMC9858920
OpenAlexW4313648631

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.