HUMAN IMMUNOGLOBULIN G1 CONSTANT REGION - HUMAN ECTODYSPLASIN-A1 RECEPTOR-BINDING DOMAIN FUSION PROTEIN for X-linked hypohidrotic ectodermal dysplasia (XLHED)

Inclusion criteria

• {"criterion_text":"- For mother : Adult mother with confirmed pregnancy no later than week 23+6 days and genetically confirmed as carrier of an EDA mutation"}
• {"criterion_text":"- For fetus subject: Male Fetal subject with confirmed diagnosis of XLHED"}
• {"criterion_text":"- Untreated relative : Untreated male relative subject ages between 6 months and 75 years with the same EDA mutation as the treated subject"}

Exclusion criteria

• {"criterion_text":"- 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."}
• {"criterion_text":"- For Untreated Relative: Previous treatment with the study intervention by any route of administration prior to study start."}
• {"criterion_text":"- For mother: 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."}
• {"criterion_text":"- For mother: Any pregnancy disorder associated with an increased risk of preterm birth, and/or maternal, fetal or neonatal morbidity/mortality"}
• {"criterion_text":"- For fetal subject: 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"}
• {"criterion_text":"- For fetal subject: 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."}
• {"criterion_text":"- For fetal subject: 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)."}
• {"criterion_text":"- For Untreated Relative: Carrier of an hypomorphic EDA mutation."}
• {"criterion_text":"- For Untreated Relative: Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists."}
• {"criterion_text":"- For Untreated Relative: Presence of an implanted device (e.g., defibrillator, neurostimulator, pacemaker)."}

Primary endpoints

• {"endpoint_text":"- Mean sweat volume collected on both forearms after local stimulation with pilocarpine (pilocarpine-induced sweating).","definition_or_measurement_approach":"Mean sweat volume collected on both forearms after local stimulation with pilocarpine (pilocarpine-induced sweating) — measured sweat volume following local pilocarpine stimulation."}

Secondary endpoints

• {"endpoint_text":"- 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","definition_or_measurement_approach":"Determined by direct visualization with a VivaScope® at 6 months of age at two different sites on the soles of the feet; reported as number/cm2."}
• {"endpoint_text":"- 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)","definition_or_measurement_approach":"Oral examination at 6 months to count erupted teeth and palpable tooth buds (alveolar structures)."}
• {"endpoint_text":"- Mean sweat volume on both forearms measured from a pilocarpineinduced sweat test (at other timepoints than 6 months).","definition_or_measurement_approach":"Pilocarpine-induced sweat test measuring mean sweat volume on both forearms at timepoints other than 6 months."}
• {"endpoint_text":"- Sweat pore density (at other timepoints than 6 months).","definition_or_measurement_approach":"Direct visualization measurements of sweat pore density at timepoints other than 6 months."}
• {"endpoint_text":"- Dentition (at other timepoints than 6 months).","definition_or_measurement_approach":"Assessment of dentition (number of erupted teeth/tooth buds) at timepoints other than 6 months by oral exam."}
• {"endpoint_text":"- Dry eye","definition_or_measurement_approach":"Assessment of dry eye signs/symptoms (method not detailed in summary)."}
• {"endpoint_text":"- Salivation assessment","definition_or_measurement_approach":"Assessment of salivation (method not detailed in summary)."}
• {"endpoint_text":"- Number of XLHED related hospitalizations","definition_or_measurement_approach":"Count of hospitalizations related to XLHED."}
• {"endpoint_text":"- Assessment of eczema","definition_or_measurement_approach":"Evaluation of eczema (specific scoring method not detailed in summary)."}
• {"endpoint_text":"- Safety and tolerability assessments","definition_or_measurement_approach":"Standard safety and tolerability assessments (adverse events, clinical/lab evaluations) as per protocol."}
• {"endpoint_text":"- Health-related quality of life assessments","definition_or_measurement_approach":"Health-related quality of life measures (specific instruments not detailed in summary)."}

Methods

• Letters to doctors / Dr-to-Dr letters (country-specific versions e.g., 'Dear Dr Letter')
• GP letters targeting pregnant women (GP Letter Pregnant Woman)
• Dear Patient / Dear Treated Child letters (patient-facing recruitment letters)
• Information for Families booklets / Trial Outline Information Sheet (site and family information materials)
• Social media posts and banners (social media recruitment, country-specific versions)
• Website recruitment pages and website submission dossiers (online information hubs)
• Video storyboard / video script for awareness (video-based recruitment materials)
• Recruitment advertisements (country-specific adverts and banners)

France

Earliest CTIS Part Ii Submission Date

09-04-2024

Latest Decision Or Authorization Date

17-03-2026

Processing Time Days

707

Number Of Sites

1

Number Of Participants

3

Germany

Earliest CTIS Part Ii Submission Date

09-04-2024

Latest Decision Or Authorization Date

23-04-2026

Processing Time Days

744

Number Of Sites

2

Number Of Participants

3

Italy

Earliest CTIS Part Ii Submission Date

09-04-2024

Latest Decision Or Authorization Date

06-08-2025

Processing Time Days

484

Number Of Sites

1

Number Of Participants

2

Spain

Earliest CTIS Part Ii Submission Date

09-04-2024

Latest Decision Or Authorization Date

31-07-2025

Processing Time Days

478

Number Of Sites

1

Number Of Participants

3

Primary sponsor

Full Name

Pierre Fabre Medicament

Organisation Type

Pharmaceutical company

Country Of Registered Address

France

Contract research organisations

Name

IQVIA Limited

Responsibilities

codes: 1,10,11,12,2,6,8

Name

Bioclinica Inc.

Responsibilities

Imagining reading

Name

Mapi Research Trust

Responsibilities

PedsQL & EASI questionnaire supplier

Name

Greenphire LLC

Responsibilities

Concierge service

Name

Medidata Solutions Inc.

Responsibilities

code: 7

Third parties

• {"country":"France","full_name":"Mapi Research Trust","duties_or_roles":"PedsQL & EASI questionnaire supplier","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Bioclinica Inc.","duties_or_roles":"Imagining reading","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"United States","full_name":"Medidata Solutions Inc.","duties_or_roles":"","organisation_type":"Non-Pharmaceutical company"}
• {"country":"United States","full_name":"Greenphire LLC","duties_or_roles":"Concierge service","organisation_type":"Non-Pharmaceutical company"}
• {"country":"United Kingdom","full_name":"IQVIA Limited","duties_or_roles":"","organisation_type":"Pharmaceutical company"}
• {"country":"Switzerland","full_name":"Fondation EspeRare","duties_or_roles":"","organisation_type":"Patient organisation/association"}

Co-sponsors

• Fondation EspeRare