Wilson's DiseaseWILLACTNCT05183165
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
A study testing Patients with Wilson's disease declaring pregnancy, in people with Wilson's Disease, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
Trial summary
Wilson's disease is a rare genetic disease, affecting less than 1,500 people in France. The transmission is autosomal recessive linked to an anomaly of the ATP7B gene on chromosome.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member.This gene… Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Wilson's Disease
- What is being tested?
- Patients with Wilson's disease declaring pregnancy,
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- 11 May 2022to Mar 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Criteria for inclusion :
- Patient aged 18 years or over.
- Wilson's disease fulfilling the criteria for the Leipzig score
- Pregnancy in progress whatever the term.
- Express consent to participate in the study.
- Affiliate or beneficiary of a social security system.
Criteria for non-inclusion :
- Liver transplant patient
- No affiliation to Social Security system
- VuInability to give free and informed consent
- Patient benefiting from a legal protection measure
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Mickael Alexandre OBADIA contact
France1 site, 1 recruiting
- Recruiting
Fondation Adolphe de Rothschild
Paris, 75019
Amélie Yavchitz, 01 48 03 64 54, ayavchitz@for.paris
Mickael Alexandre Obadia, 01 48 03 62 52, aobadia@for.paris
About this study
Wilson's disease is a rare genetic disease, affecting less than 1,500 people in France. The transmission is autosomal recessive linked to an anomaly of the ATP7B gene on chromosome.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member. If there is no mutation, this ATPase incorporates copper into apo-ceruloplasmin to be released into the blood serum. The mutation of the ATP7B gene results in a defective biliary excretion of copper, leading to its accumulation in the liver, but also in other organs such as the eye or the brain. Advances in treatment have dramatically changed the prognosis for Wilson's disease, making the desire for pregnancy more confident.
The consensus is to maintain treatment during pregnancy, reducing the dosage to limit teratogenicity as well as the risk of fetal copper deficiency.The mammary gland is the primary site of copper metabolism in lactation, and ATPase 7B is the primary effector.
Read more
It has been shown in a mouse model of Wilson's disease (ATP7B - / - mouse) with treatment, that mothers accumulate copper in the liver but also in the mammary gland.
However, a recent study showed that the copper level in breast milk was normal in 18 Wilsonian patients treated with D-penicillamine, trientine salts or zinc salts, suggesting that breastfeeding is possible in these patients without risk to the development of the infants.The problem of breastfeeding newborns for patients with Wilson's disease is therefore associated with a risk of copper deficiency in the newborn due to insufficiently rich breast milk in copper due to drugs.
In addition, the passage into breast milk of treatments is not sufficiently known.
These factors make breastfeeding not currently recommended for Wilsonian mothers,However, many patients wish to breastfeed and some of them breastfeed their newborns despite the risk of breastfeeding
- Conditions
- Wilson's Disease
- Being tested
- Patients with Wilson's disease declaring pregnancy,
- Medical subject headings
- Hepatolenticular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patients with Wilson's disease declaring pregnancy,Other
Blood and urine biological assessment Dietary assessment
| Study group | Role | What they receive |
|---|---|---|
| Patients with Wilson's disease declaring pregnancy, | Other | Patients with Wilson's disease declaring pregnancy.Followed in the reference, constituent, and competence centers for Wilson's disease and other rare copper-related diseases, spread over French national territory. Receives: Other: Patients with Wilson's disease declaring pregnancy, |
What is being measured
The primary outcome is the main question the study is designed to answer.
Concentration of total copper (bound and free) in µmol / L in a sample of breast milk
The assay is performed by induced plasma mass spectrometry (ICP-MS) after nitric acid mineralization of the sample.
Concentration of total copper (bound and free) in µmol / L in a sample of breast milk taken 1 day ± 24 hours after childbirth.
The copper assay is performed by induced plasma mass spectrometry (ICP-MS) after nitric acid mineralization of the sample.
The copper assay is performed by induced plasma mass spectrometry (ICP-MS) after nitric acid mineralization of the sample.
Measured: 1 day ± 24 hours after childbirth
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jan 2022
- Study start11 May 2022
- Primary completionMar 2027 (estimated)
- Study completionMar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wilson's DiseaseStudies of the same condition, open and under way.
- More trials run by Fondation Ophtalmologique Adolphe de RothschildThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05183165
- Sponsor's protocol ID
- AOA_2021_28
- Acronym
- WILLACT
- Status last verified
- Sep 2026
- First submitted
- 21 Dec 2021
- Last updated
- 1 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
- ClinicalTrials.gov ID
- NCT05183165
- Acronym / sponsor ID
- WILLACT / AOA_2021_28
- Conditions
- Wilson's Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 11 May 2022 (actual)
- Primary completion
- Mar 2027 (estimated)
- Study completion
- Mar 2027 (estimated)
- First posted
- 10 Jan 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Wilson's disease is a rare genetic disease, affecting less than 1,500 people in France. The transmission is autosomal recessive linked to an anomaly of the ATP7B gene on chromosome.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member. If there is no mutation, this ATPase incorporates copper into apo-ceruloplasmin to be released into the blood serum. The mutation of the ATP7B gene results in a defective biliary excretion of copper, leading to its accumulation in the liver, but also in other organs such as the eye or the brain. Advances in treatment have dramatically changed the prognosis for Wilson's disease, making the desire for pregnancy more confident.
The consensus is to maintain treatment during pregnancy, reducing the dosage to limit teratogenicity as well as the risk of fetal copper deficiency.The mammary gland is the primary site of copper metabolism in lactation, and ATPase 7B is the primary effector.
It has been shown in a mouse model of Wilson's disease (ATP7B - / - mouse) with treatment, that mothers accumulate copper in the liver but also in the mammary gland.
However, a recent study showed that the copper level in breast milk was normal in 18 Wilsonian patients treated with D-penicillamine, trientine salts or zinc salts, suggesting that breastfeeding is possible in these patients without risk to the development of the infants.The problem of breastfeeding newborns for patients with Wilson's disease is therefore associated with a risk of copper deficiency in the newborn due to insufficiently rich breast milk in copper due to drugs.
In addition, the passage into breast milk of treatments is not sufficiently known.
These factors make breastfeeding not currently recommended for Wilsonian mothers,However, many patients wish to breastfeed and some of them breastfeed their newborns despite the risk of breastfeeding
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Wilson's disease declaring pregnancy, | Other | Other: Patients with Wilson's disease declaring pregnancy,Patients with Wilson's disease declaring pregnancy.Followed in the reference, constituent, and competence centers for Wilson's disease and other rare copper-related diseases, spread over French national territory. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Patients with Wilson's disease declaring pregnancy,Blood and urine biological assessment Dietary assessment | Other | Patients with Wilson's disease declaring pregnancy, |
Primary outcome
Concentration of total copper (bound and free) in µmol / L in a sample of breast milk
Time frame: 1 day ± 24 hours after childbirth
The assay is performed by induced plasma mass spectrometry (ICP-MS) after nitric acid mineralization of the sample. Concentration of total copper (bound and free) in µmol / L in a sample of breast milk taken 1 day ± 24 hours after childbirth. The copper assay is performed by induced plasma mass spectrometry (ICP-MS) after nitric acid mineralization of the sample. The copper assay is performed by induced plasma mass spectrometry (ICP-MS) after nitric acid mineralization of the sample.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mickael Alexandre OBADIA contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Patients with Wilson's disease declaring pregnancy, in people with Wilson's Disease, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amélie YAVCHITZ (01 48 03 64 54, ayavhitz@for.paris), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Concentration of total copper (bound and free) in µmol / L in a sample of breast milk (time frame: 1 day ± 24 hours after childbirth). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2026.