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NCT04980638 · EspeRare Foundation

Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia

(EDELIFE)

What this study is about

This is an where both patients and doctors know the treatment given, forward-looking, genotype-match controlled for primary estimand, non randomly assigned, conducted at multiple hospitals, international Phase 2 clinical trial designed to investigate the effectiveness and safety of ER004 administered intraamniotically as a treatment for unborn XLHED male subjects.

View original scientific description

This is an open-label, prospective, genotype-match controlled for primary estimand, non randomized, multicenter, international Phase 2 clinical trial designed to investigate the efficacy and safety of ER004 administered intraamniotically as a treatment for unborn XLHED male subjects.

Interventions

BIOLOGICAL

ER004

Intra-amniotic route 100 mg/kg of estimated fetal weight per injection. 3 injections, approximately 3 weeks apart starting from gestational week 26

Primary outcome measures

Mean sweat volume

Time frame: at 6 months of age (corrected age for subjects born at < 37 weeks)

For treated subject, mean sweat volume is collected on both forearms after local stimulation with pilocarpine (pilocarpine-induced sweating)

Who can participate

This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.

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 fetal subject : male fetal subject with confirmed diagnosis of XLHED
  • For untreated relative: untreated male relative subject aged between 6 months and 75 years with the same EDA mutation as the treated subject

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 : second major anatomic anomaly (not related to the underlying XLHED) that c

Where

  • Los Angeles, California
  • St Louis, Missouri

Collaborators

Pierre Fabre Medicament, IQVIA Pty Ltd

Related conditions & keywords

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Frequently asked questions

What is a clinical trial?

A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.

Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.

Will I be compensated?

Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.

Will I receive a placebo instead of treatment?

When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.

Can I leave a trial if I change my mind?

Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.

How long does a clinical trial last?

Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.

Data: ClinicalTrials.gov · synced Apr 30, 2025 · Source of record for eligibility and locations

📊
1 of 20 participants interested
5% interest

See if this study fits

A short prescreen based on this study's listed criteria. A coordinator confirms eligibility — this is not a medical assessment.

Preparing your pre-screening questions…

Study locations

Choose your preferred location, or select flexible during enrollment.

RECRUITING

Los Angeles

California

Location available
RECRUITING

St Louis

Missouri

Location available

Express your interest

Share your contact details and a study coordinator can follow up about screening.

Secure & Confidential

Your information is protected and will only be shared with the research team.

What participation can include

  • Study-related care provided by the research team
  • Close monitoring by medical professionals
  • Possible compensation for time and travel*
  • The option to withdraw at any time
  • Contributing to medical research that may help future patients

*Compensation varies by study. Confirm details with coordinator.

Typical next steps

  1. 1.Submit this form
  2. 2.Phone screening
  3. 3.In-person assessment if eligible
  4. 4.Begin participation

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Looking for X-linked Hypohidrotic Ectodermal Dysplasia Treatment in Los Angeles?

Join others in California exploring innovative treatment options through clinical research

X-linked Hypohidrotic Ectodermal Dysplasia Treatment Options in Los Angeles, California

If you're searching for X-linked Hypohidrotic Ectodermal Dysplasia treatment in Los Angeles, participating in a clinical research study may provide access to innovative approaches under expert medical supervision. This study is actively recruiting participants in Los Angeles, St Louis and surrounding areas.

Clinical trials offer participants the opportunity to receive cutting-edge treatments while contributing to medical research that may help future patients with X-linked Hypohidrotic Ectodermal Dysplasia. All study-related care is provided at no cost to participants.

Local Sites
2 locations in California
Now Enrolling
Up to 20 participants
Quick Start
Screening available now

Why Consider a Clinical Trial for X-linked Hypohidrotic Ectodermal Dysplasia?

Potential Benefits

  • Access to new treatment approaches before public availability
  • Close monitoring by experienced medical professionals
  • Study-related care provided at no cost
  • Contribute to medical research for X-linked Hypohidrotic Ectodermal Dysplasia

What to Expect

  • Initial screening to determine eligibility
  • Regular check-ups and monitoring visits
  • Possible compensation for time and travel
  • You can withdraw at any time

Frequently Asked Questions About This X-linked Hypohidrotic Ectodermal Dysplasia Study

Important Clinical Trial Information

This information is provided for educational purposes and does not constitute medical advice. Clinical trial participation involves potential risks and benefits. Eligibility requirements apply and will be assessed during the screening process.

Study identifier: NCT04980638. For complete study details, visit ClinicalTrials.gov. Always consult with your healthcare provider before making decisions about your medical care or participating in clinical research.