Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease (WILLACT)

  • STATUS
    Recruiting
  • End date
    Aug 15, 2026
  • participants needed
    15
  • sponsor
    Fondation Ophtalmologique Adolphe de Rothschild
Updated on 15 September 2022
liver transplant
zinc
copper
penicillamine
trientine
ceruloplasmin
atp7b gene

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 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

Details
Condition Wilson's Disease
Treatment Patients with Wilson's disease declaring pregnancy,
Clinical Study IdentifierNCT05183165
SponsorFondation Ophtalmologique Adolphe de Rothschild
Last Modified on15 September 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

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
VuInability to give free and informed consent
Patient benefiting from a legal protection measure
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