- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05183165
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease (WILLACT)
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 Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Mickael Alexandre OBADIA
- Phone Number: 01 48 03 62 52
Study Contact Backup
- Name: Amélie YAVCHITZ
- Phone Number: 01 48 03 64 54
- Email: ayavhitz@for.paris
Study Locations
-
-
-
Paris, France, 75019
- Recruiting
- Fondation Adolphe de Rothschild
-
Contact:
- Mickael Alexandre Obadia
- Phone Number: 01 48 03 62 52
- Email: aobadia@for.paris
-
Contact:
- Amélie YAVCHITZ
- Phone Number: 01 48 03 64 54
- Email: ayavchitz@for.paris
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
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.
|
Blood and urine biological assessment Dietary assessment
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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. |
1 day ± 24 hours after childbirth
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Digestive System Diseases
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Liver Diseases
- Genetic Diseases, Inborn
- Basal Ganglia Diseases
- Movement Disorders
- Neurodegenerative Diseases
- Metabolism, Inborn Errors
- Heredodegenerative Disorders, Nervous System
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Metal Metabolism, Inborn Errors
- Hepatolenticular Degeneration
Other Study ID Numbers
- AOA_2021_28
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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