X-linked hypohidrotic ectodermal dysplasia (XLHED) MedDRA version: 20.0 Level: LLT Classification code 10072592 Term: Hypohidrotic ectodermal dysplasia System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Product Name: ER004
Pharmaceutical Form: Solution for injection
INN or Proposed INN: Not Available
Current Sponsor code: ER004
Other descriptive name: Human immunoglobulin G1 constant region - human e
Sponsors
EspeRare Foundation
Pierre Fabre Médicament
Eligibility
Sex/Gender
Male
Inclusion criteria
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 75 years with the same EDA mutation as the treated subject Are the trial subjects under 18? yes Number of subjects for this age range: 20 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: 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.;Secondary Objective: 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) ;Primary end point(s): Mean sweat volume collected on both forearms after local stimulation with pilocarpine (pilocarpine-induced sweating). ;Timepoint(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) | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary 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 ;Timepoint(s) of evaluation of this end point: At 6 month of age for primary and key secondary endpoints | — |
Countries
France, Germany, Italy, Spain, United Kingdom, United States
Contacts
Public ContactER004-Clinical Use Information
EspeRare Foundation
Outcome results
None listed