Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease (WILLACT)
Primary Purpose
Wilson's Disease
Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Patients with Wilson's disease declaring pregnancy,
Sponsored by
About this trial
This is an interventional other trial for Wilson's Disease
Eligibility Criteria
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
- VuInability to give free and informed consent
- Patient benefiting from a legal protection measure
Sites / Locations
- Fondation Adolphe de RothschildRecruiting
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Patients with Wilson's disease declaring pregnancy,
Arm Description
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.
Outcomes
Primary Outcome Measures
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.
Secondary Outcome Measures
Full Information
NCT ID
NCT05183165
First Posted
December 21, 2021
Last Updated
July 13, 2023
Sponsor
Fondation Ophtalmologique Adolphe de Rothschild
1. Study Identification
Unique Protocol Identification Number
NCT05183165
Brief Title
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
Acronym
WILLACT
Official Title
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
Study Type
Interventional
2. Study Status
Record Verification Date
July 2023
Overall Recruitment Status
Recruiting
Study Start Date
May 11, 2022 (Actual)
Primary Completion Date
August 2025 (Anticipated)
Study Completion Date
August 2026 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Fondation Ophtalmologique Adolphe de Rothschild
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Wilson's Disease
7. Study Design
Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
15 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Patients with Wilson's disease declaring pregnancy,
Arm Type
Other
Arm Description
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.
Intervention Type
Other
Intervention Name(s)
Patients with Wilson's disease declaring pregnancy,
Intervention Description
Blood and urine biological assessment Dietary assessment
Primary Outcome Measure Information:
Title
Concentration of total copper (bound and free) in µmol / L in a sample of breast milk
Description
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.
Time Frame
1 day ± 24 hours after childbirth
10. Eligibility
Sex
Female
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Amélie YAVCHITZ
Phone
01 48 03 64 54
Email
ayavhitz@for.paris
First Name & Middle Initial & Last Name or Official Title & Degree
Mickael Alexandre OBADIA
Phone
01 48 03 62 52
Facility Information:
Facility Name
Fondation Adolphe de Rothschild
City
Paris
ZIP/Postal Code
75019
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Amélie Yavchitz
Phone
01 48 03 64 54
Email
ayavchitz@for.paris
First Name & Middle Initial & Last Name & Degree
Mickael Alexandre Obadia
Phone
01 48 03 62 52
Email
aobadia@for.paris
12. IPD Sharing Statement
Learn more about this trial
Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease
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