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

NCT05183165 | Recruiting

• 1 other identifier: AOA_2021_28
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Wilson's Disease

Outcome Measures

Primary Outcomes (1)

• 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.

  1 day ± 24 hours after childbirth

Study Arms (1)

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.

Other: Patients with Wilson's disease declaring pregnancy,

Interventions

Patients with Wilson's disease declaring pregnancy, OTHER

Blood and urine biological assessment Dietary assessment

Patients with Wilson's disease declaring pregnancy,

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Fondation Adolphe de Rothschild

Paris, 75019, France

RECRUITING

MeSH Terms

Conditions

Hepatolenticular Degeneration

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Amélie YAVCHITZ

CONTACT

01 48 03 64 54; ayavhitz@for.paris

Mickael Alexandre OBADIA

CONTACT

01 48 03 62 52

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 21, 2021
• First Posted: January 10, 2022
• Study Start: May 11, 2022
• Primary Completion (Estimated): August 1, 2026
• Study Completion (Estimated): August 1, 2026
• Last Updated: December 17, 2025

Record last verified: 2025-12

Locations

FR (1)