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    EudraCT Number:2021-002532-23
    Sponsor's Protocol Code Number:ER004-CLIN01/F60082AI201
    National Competent Authority:Italy - Italian Medicines Agency
    Clinical Trial Type:EEA CTA
    Trial Status:Ongoing
    Date on which this record was first entered in the EudraCT database:2022-01-03
    Trial results
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    A. Protocol Information
    A.1Member State ConcernedItaly - Italian Medicines Agency
    A.2EudraCT number2021-002532-23
    A.3Full title of the trial
    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 X-linked hypohidrotic ectodermal dysplasia (XLHED)
    Studio clinico prospettico, in aperto, controllato in relazione al genotipo, multicentico per valutare l'efficacia e la sicurezza di ER004 intra-amniotico come trattamento prenatale nei soggetti di sesso maschile affetti da displasia ectodermica ipoidrotica X-linked (XLHED)
    A.3.1Title of the trial for lay people, in easily understood, i.e. non-technical, language
    An open-label Phase 2 trial to investigate efficacy and safety of intra-amniotic administrations of ER004 in male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)
    Sperimentazione di fase 2 in aperto per indagare l’efficacia e la sicurezza di somministrazioni intra-amniotiche di ER004 in soggetti di sesso maschile con displasia ectodermica ipoidrotica X-linked (XLHED).
    A.3.2Name or abbreviated title of the trial where available
    A.4.1Sponsor's protocol code numberER004-CLIN01/F60082AI201
    A.7Trial is part of a Paediatric Investigation Plan Yes
    A.8EMA Decision number of Paediatric Investigation PlanP/284/2021
    B. Sponsor Information
    B.Sponsor: 1
    B.1.1Name of SponsorESPERARE FOUNDATION
    B.3.1 and B.3.2Status of the sponsorNon-Commercial
    B.4 Source(s) of Monetary or Material Support for the clinical trial:
    B.4.1Name of organisation providing supportPierre Fabre Médicament
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationEspeRare Foundation
    B.5.2Functional name of contact pointER004-Clinical Use Information
    B.5.3 Address:
    B.5.3.1Street AddressCampus Biotech, Avenue Secheron 15
    B.5.3.2Town/ cityGeneva
    B.5.3.3Post code1202
    B.5.4Telephone number41227944004
    D. IMP Identification
    D.IMP: 1
    D.1.2 and D.1.3IMP RoleTest
    D.2 Status of the IMP to be used in the clinical trial
    D.2.1IMP to be used in the trial has a marketing authorisation No
    D.2.5The IMP has been designated in this indication as an orphan drug in the Community Yes
    D.2.5.1Orphan drug designation numberEU/3/05/334
    D.3 Description of the IMP
    D.3.1Product nameER004
    D.3.2Product code [.]
    D.3.4Pharmaceutical form Solution for injection
    D.3.4.1Specific paediatric formulation No
    D.3.7Routes of administration for this IMPIntraamniotic use
    D.3.8 to D.3.10 IMP Identification Details (Active Substances)
    D.3.9.2Current sponsor codeER004
    D.3.9.3Other descriptive nameHuman immunoglobulin G1 constant region - human ectodysplasin-A1 receptorbinding domain fusion protein
    D.3.9.4EV Substance CodeSUB196780
    D.3.10 Strength
    D.3.10.1Concentration unit mg/ml milligram(s)/millilitre
    D.3.10.2Concentration typeequal
    D.3.10.3Concentration number10
    D.3.11 The IMP contains an:
    D.3.11.1Active substance of chemical origin No
    D.3.11.2Active substance of biological/ biotechnological origin (other than Advanced Therapy IMP (ATIMP) Yes
    The IMP is a:
    D.3.11.3Advanced Therapy IMP (ATIMP) No
    D. cell therapy medicinal product Information not present in EudraCT
    D. therapy medical product Information not present in EudraCT
    D. Engineered Product Information not present in EudraCT
    D. ATIMP (i.e. one involving a medical device) Information not present in EudraCT
    D. on Advanced therapies (CAT) has issued a classification for this product Information not present in EudraCT
    D.3.11.4Combination product that includes a device, but does not involve an Advanced Therapy No
    D.3.11.5Radiopharmaceutical medicinal product No
    D.3.11.6Immunological medicinal product (such as vaccine, allergen, immune serum) No
    D.3.11.7Plasma derived medicinal product No
    D.3.11.8Extractive medicinal product No
    D.3.11.9Recombinant medicinal product Yes
    D.3.11.10Medicinal product containing genetically modified organisms No
    D.3.11.11Herbal medicinal product No
    D.3.11.12Homeopathic medicinal product No
    D.3.11.13Another type of medicinal product No
    D.8 Information on Placebo
    E. General Information on the Trial
    E.1 Medical condition or disease under investigation
    E.1.1Medical condition(s) being investigated
    X-linked hypohidrotic ectodermal dysplasia (XLHED)
    displasia ectodermica ipoidrotica X-linked (XLHED)
    E.1.1.1Medical condition in easily understood language
    X-linked hypohidrotic ectodermal dysplasia (XLHED)
    displasia ectodermica ipoidrotica X-linked (XLHED)
    E.1.1.2Therapeutic area Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    MedDRA Classification
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 20.0
    E.1.2Level LLT
    E.1.2Classification code 10072592
    E.1.2Term Hypohidrotic ectodermal dysplasia
    E.1.2System Organ Class 100000004850
    E.1.3Condition being studied is a rare disease Yes
    E.2 Objective of the trial
    E.2.1Main objective of the trial
    To assess the efficacy of intra-amniotic administrations of ER004 on sweating ability in male XLHED subjects with a null mutation in EDA at 6 months of age, compared to untreated matched control subjects.
    Valutare l’efficacia di somministrazioni intra-amniotiche di ER004 sulla capacità di sudorazione in soggetti di sesso maschile con XLHED con una mutazione in EDA null a 6 mesi di età, rispetto a soggetti di controllo abbinati non trattati
    E.2.2Secondary objectives of the trial
    To assess the efficacy of intra-amniotic administrations of ER004 on sweat pore density and dentition in male subjects with XLHED at 6 months of age
    To assess the efficacy of intra-amniotic administrations of ER004 in male subjects with XLHED up to 5 years of age
    To assess the safety and tolerability of intra-amniotic administrations of ER004 in male subjects with XLHED up to 6 months of age and in mothers up to 1 month after delivery
    To assess the long-term safety of intra amniotic administrations of ER004 in male subjects with XLHED up to 5 years of age
    To assess safety parameters in untreated relatives (controls)

    Valutare l’efficacia delle somministrazioni intra-amniotiche di ER004 sulla densità dei pori sudoripari e sulla dentizione in soggetti di sesso maschile con XLHED a 6 mesi di età
    Valutare l’efficacia delle somministrazioni intra-amniotiche di ER004 in soggetti di sesso maschile con XLHED fino ai 5 anni di età
    Valutare la sicurezza delle somministrazioni intra-amniotiche di ER004 in soggetti di sesso maschile con XLHED fino a 6 mesi di età e nelle madri fino a 1 mese dopo il parto
    Valutare la sicurezza a lungo termine delle somministrazioni intra-amniotiche di ER004 in soggetti di sesso maschile con XLHED fino a 5 anni di età
    Valutare i parametri di sicurezza nei familiari non trattati (controlli)
    E.2.3Trial contains a sub-study No
    E.3Principal inclusion criteria
    For mother : Adult mother with confirmed pregnancy no later than week 23+6 and genetically confirmed as carrier of an EDA mutation

    For fetus subject: Male Fetal subject with confirmed diagnosis of XLHED

    Untreated relative : Untreated male relative subject ages between 6 months and 60 years with the same EDA mutation as the treated subject
    Per la madre: Madre adulta con gravidanza confermata non oltre la settimana 23+6 e geneticamente confermata come portatrice di una mutazione EDA

    Per il soggetto feto: Soggetto fetale di sesso maschile con diagnosi confermata di XLHED

    Familiare non trattato: Soggetto familiare di sesso maschile non trattato di età compresa tra 6 mesi e 60 anni con la stessa mutazione EDA del soggetto trattato
    E.4Principal exclusion criteria
    For mother:
    Any evidence of active maternal infection associated with a risk of preterm birth and/or congenital anomalies of prenatal and postnatal risk to the child Documented maternal HIV infection.
    Any pre-existing maternal medical condition that increases the risk of preterm birth or increases the risk of a serious untoward event occurring to the mother during pregnancy.
    Any pregnancy disorder associated with an increased risk of preterm birth, and/or maternal, fetal or neonatal morbidity/mortality

    For fetal subject
    1.Second major anatomic anomaly (not related to the underlying XLHED) that contributes to a significant morbidity or mortality risk, or echocardiogram or ultrasonography or other findings that indicate a high risk of fetal demise or risk of preterm birth.
    2.Any condition other than XLHED (i.e., other forms of ectodermal dysplasia, large orofacial clefts) that is likely to have an impact on the number of tooth germs.
    3.Any other medical condition which in the opinion of the investigator would not allow for safe conduct of the study for the subject, or that would interfere with efficacy assessments (e.g., any disorders that lead to reduced fetal swallowing).

    Untreated Relative
    1.Carrier of an hypomorphic EDA mutation.
    2.Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists.
    3.Presence of an implanted device (e.g., defibrillator, neurostimulator, pacemaker).
    4.Previous treatment with the study intervention by any route of administration prior to study start.

    Per la madre: Qualsiasi evidenza di infezione materna attiva associata a rischio di parto pretermine e/o a anomalie congenite di rischio prenatale e postnatale per il bambino. lnfezione da HIV materna documentata.
    Qualsiasi condizione medica materna preesistente che aumenta il rischio di parto pretermine o aumenta il rischio di un evento grave indesiderato che si manifesti per la madre durante la gravidanza.
    Qualsiasi disturbo della gravidanza associato a un aumento del rischio di nascita pretermine e/o morbilità/mortalità neonatale, fetale o materna.
    Per il soggetto fetale
    1. Seconda anomalia anatomica maggiore (non correlata all’XLHED) che contribuisce a un rischio significativo di morbilità o mortalità, o ecocardiogramma o ecografia, o altri esiti che indicano un elevato rischio di morte fetale o rischio di parto pretermine.
    2. Qualsiasi condizione diversa dall’XLHED (ovvero, altre forme di displasia ectodermica, schisi orofacciali di grandi dimensioni) che possa avere un impatto sul numero di germi dentali.
    3. Qualsiasi altra condizione medica che, a giudizio dello sperimentatore, non consentirebbe la conduzione sicura dello studio per il soggetto o che interferirebbe con le valutazioni di efficacia (ad es. eventuali disturbi che portano
    a una ridotta deglutizione fetale).
    Familiari non trattati
    1. Portatore di una mutazione ipomorfa EDA.
    2. Ipersensibilità nota a pilocarpina o agonisti muscarinici simili a pilocarpina.
    3. Presenza di un dispositivo impiantato (ad es. defibrillatore, neurostimolatore, pacemaker).
    4. Trattamento pregresso con l’intervento dello studio per qualsiasi via di somministrazione prima dell’inizio dello studio.
    E.5 End points
    E.5.1Primary end point(s)
    Mean sweat volume collected on both forearms after local stimulation with pilocarpine (pilocarpine-induced sweating).
    Volume medio di sudore raccolto su entrambi gli avambracci dopo stimolazione locale con pilocarpina (sudorazione indotta da pilocarpina).
    E.5.1.1Timepoint(s) of evaluation of this end point
    For treated subject, mean sweat volume is collected at 6 months of age (V8) (corrected age for subjects born at < 37 weeks)
    Per il soggetto trattato, il volume medio nel sudore è raccolto a 6 mesi di età (V8) (età corretta per i soggetti nati a <37 settimane)
    E.5.2Secondary end point(s)
    Key secondary endpoints:
    •Mean sweat pore density (number/cm2) determined by direct visualization with a VivaScope® at 6 months of age (V8) at 2 different sites on the soles of the feet
    •Dental development evaluated by the number of erupted teeth and tooth buds (palpable alveolar structures in the alveolar ridge) as determined by oral examination at 6 months of age (V8)

    Other secondary endpoints:
    •Mean sweat volume on both forearms measured from a pilocarpine-induced sweat test (at other timepoints than 6 months).
    •Sweat pore density (at other timepoints than 6 months).
    •Dentition (at other timepoints than 6 months).
    •Dry eye
    •Salivation assessment
    •Number of XLHED related hospitalizations
    •Assessment of eczema
    •Safety and tolerability assessments
    •Health-related quality of life assessments
    Principali endpoint secondari:
    • Densità media dei pori sudoripari (numero/cm2) determinata dalla visualizzazione diretta con VivaScope® a 6 mesi (V8) in 2 diversi centri sulle piante dei piedi
    • Sviluppo dentale valutato mediante il numero di denti eruttati e germi dentali (strutture alveolari palpabili nella cresta alveolare) determinato mediante visita odontoiatrica a 6 mesi di età (V8). Altri endpoint secondari:
    • Volume medio di sudore su entrambi gli avambracci misurato tramite un test del sudore indotto da pilocarpina (ad tempi diversi da 6 mesi).
    • Densità media dei pori sudoripari (a tempi diversi da 6 mesi).
    • Dentizione (a tempi diversi da 6 mesi).
    • Secchezza oculare
    • Valutazione della salivazione
    • Numero di ricoveri correlati all’XLHED
    • Valutazione dell’eczema
    • Valutazioni di sicurezza e tollerabilità
    • Valutazioni della qualità della vita correlata alla salute
    E.5.2.1Timepoint(s) of evaluation of this end point
    At 6 month of age for primary and key secondary endpoints
    A 6 mesi di età per gli endpoint primari e secondari
    E.6 and E.7 Scope of the trial
    E.6Scope of the trial
    E.6.1Diagnosis No
    E.6.2Prophylaxis No
    E.6.3Therapy No
    E.6.4Safety Yes
    E.6.5Efficacy Yes
    E.6.6Pharmacokinetic Yes
    E.6.7Pharmacodynamic No
    E.6.8Bioequivalence No
    E.6.9Dose response No
    E.6.10Pharmacogenetic No
    E.6.11Pharmacogenomic No
    E.6.12Pharmacoeconomic No
    E.6.13Others No
    E.7Trial type and phase
    E.7.1Human pharmacology (Phase I) No
    E.7.1.1First administration to humans No
    E.7.1.2Bioequivalence study No
    E.7.1.3Other No
    E. trial type description
    E.7.2Therapeutic exploratory (Phase II) Yes
    E.7.3Therapeutic confirmatory (Phase III) No
    E.7.4Therapeutic use (Phase IV) No
    E.8 Design of the trial
    E.8.1Controlled Yes
    E.8.1.1Randomised No
    E.8.1.2Open Yes
    E.8.1.3Single blind No
    E.8.1.4Double blind No
    E.8.1.5Parallel group No
    E.8.1.6Cross over No
    E.8.1.7Other No
    E.8.2 Comparator of controlled trial
    E.8.2.1Other medicinal product(s) No
    E.8.2.2Placebo No
    E.8.2.3Other Yes
    E. description
    controllato in relazione al genotipo
    Genotype-matched controlled
    E.8.2.4Number of treatment arms in the trial1
    E.8.3 The trial involves single site in the Member State concerned Yes
    E.8.4 The trial involves multiple sites in the Member State concerned No
    E.8.4.1Number of sites anticipated in Member State concerned1
    E.8.5The trial involves multiple Member States Yes
    E.8.5.1Number of sites anticipated in the EEA5
    E.8.6 Trial involving sites outside the EEA
    E.8.6.1Trial being conducted both within and outside the EEA Yes
    E.8.6.2Trial being conducted completely outside of the EEA Information not present in EudraCT
    E.8.6.3If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned
    United Kingdom
    United States
    E.8.7Trial has a data monitoring committee Yes
    E.8.8 Definition of the end of the trial and justification where it is not the last visit of the last subject undergoing the trial
    The End of study is defined as the time point when the last treated subject has completed the last visit (V14) or the premature withdrawal visit.
    La Fine dello studio è definita come il momento in cui l'ultimo soggetto trattato ha completato l'ultima visita (V14) o la visita di ritiro prematuro.
    E.8.9 Initial estimate of the duration of the trial
    E.8.9.1In the Member State concerned years8
    E.8.9.1In the Member State concerned months0
    E.8.9.1In the Member State concerned days0
    E.8.9.2In all countries concerned by the trial years8
    E.8.9.2In all countries concerned by the trial months0
    E.8.9.2In all countries concerned by the trial days0
    F. Population of Trial Subjects
    F.1 Age Range
    F.1.1Trial has subjects under 18 Yes
    F.1.1.1In Utero Yes
    F. of subjects for this age range: 20
    F.1.1.2Preterm newborn infants (up to gestational age < 37 weeks) No
    F.1.1.3Newborns (0-27 days) No
    F.1.1.4Infants and toddlers (28 days-23 months) No
    F.1.1.5Children (2-11years) No
    F.1.1.6Adolescents (12-17 years) No
    F.1.2Adults (18-64 years) No
    F.1.3Elderly (>=65 years) No
    F.2 Gender
    F.2.1Female No
    F.2.2Male Yes
    F.3 Group of trial subjects
    F.3.1Healthy volunteers No
    F.3.2Patients Yes
    F.3.3Specific vulnerable populations Yes
    F.3.3.1Women of childbearing potential not using contraception No
    F.3.3.2Women of child-bearing potential using contraception No
    F.3.3.3Pregnant women No
    F.3.3.4Nursing women No
    F.3.3.5Emergency situation No
    F.3.3.6Subjects incapable of giving consent personally Yes
    F. of subjects incapable of giving consent
    Fetus and new born incapable to give their consent
    Feto e neonato incapaci di dare il proprio consenso
    F.3.3.7Others No
    F.4 Planned number of subjects to be included
    F.4.1In the member state2
    F.4.2 For a multinational trial
    F.4.2.1In the EEA 11
    F.4.2.2In the whole clinical trial 20
    F.5 Plans for treatment or care after the subject has ended the participation in the trial (if it is different from the expected normal treatment of that condition)
    ER004 will not be administered to participants after the end of the study. Upon completion of the last study visit, participants will return to the care of their treating physician.
    ER004 non sarà somministrato ai partecipanti dopo la fine dello studio. Al termine dell'ultima visita di studio, i partecipanti torneranno alle cure del proprio medico curante.
    G. Investigator Networks to be involved in the Trial
    N. Review by the Competent Authority or Ethics Committee in the country concerned
    N.Competent Authority Decision Authorised
    N.Date of Competent Authority Decision2022-03-22
    N.Ethics Committee Opinion of the trial applicationFavourable
    N.Ethics Committee Opinion: Reason(s) for unfavourable opinion
    N.Date of Ethics Committee Opinion2022-04-12
    P. End of Trial
    P.End of Trial StatusOngoing
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