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

RecruitingNAAges 18 Years - anyFemaleFondation Ophtalmologique Adolphe de Rothschild
NCT05183165 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 d

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📋 Eligibility rules (as published)
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
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What it tests

  • Patients with Wilson's disease declaring pregnancy,
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Where

1 site
Fondation Adolphe de Rothschild
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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