Informations générales (source: ClinicalTrials.gov)
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease (WILLACT)
Interventional
N/A
Fondation Ophtalmologique Adolphe de Rothschild (Voir sur ClinicalTrials)
mai 2022
août 2026
17 octobre 2024
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
Etablissements
| Les établissements d'Île-de-France ayant mis à jour leurs données Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| HOPITAL FONDATION A. DE ROTHSCHILD | Alexandre OBADIA | 21/06/2024 13:34:38 | Contacter | ||
Critères
Femme
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
- 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