Study of the Effects of Fabrazyme Treatment on Lactation and Infants

Study Overview
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Brief Summary
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The study will last for up to 2 years (24 months). Full participation for both mother and infant is 24 months, full participation of mother and development of infant is 24 months, while full participation of mother and no infant participation is 6 months

Detailed Description
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NOTE: Estimated Enrollment: 10 mothers and up to 10 infants

Official Title
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A Multicenter, Multinational Study of the Effects of Fabrazyme (Agalsidase Beta) Treatment on Lactation and Infants

Conditions
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Fabry Disease, Alpha Galactosidase A Deficiency

Intervention / Treatment
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* Drug: agalsidase beta


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Mothers must meet the following criteria to be enrolled in this study: provide signed written informed consent to participate in this study, be enrolled in the Fabry Registry and receiving Fabrazyme while lactating, agree to adhere to the Fabry Registry recommended schedule of assessments for medical history, pregnancy outcome, genotyping, and antibody testing, and agree to adhere to the schedule of evaluations for this study. Infants must meet the following criteria to be enrolled in this study: have the signed written informed consent of the parent(s)/legal guardian(s) to participate in this study, be born to a mother who is receiving Fabrazyme during lactation, be receiving breast milk from the mother, and have the agreement of the parent(s)/legal guardian(s) to adhere to the schedule of evaluations for this study. Exclusion Criteria: The mother and infant will be excluded from this study if the mother has received an investigational drug within 30 days prior to study enrollment.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Agalsidase beta<br>Commercially available Fabrazyme treatment at prescribed dose and regimen as determined by their treating physician | Drug: agalsidase beta<br>* Pharmaceutical form: powder for reconstitution Route of administration: intravenous<br>* Other names: Fabrazyme;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Determination of pharmacokinetic parameters of αGAL in breast milk: Cmax | Maximum concentration (Cmax) of αGAL in breast milk | Month 1, 3, and 6 | 
| Determination of pharmacokinetic parameters of αGAL in breast milk: AUC0-2h | Area under the plasma αGAL concentration-time curve (AUC) from 0 to 2 hours post end of infusion (AUC0-2) | Month 1, 3, and 6 | 
| Determination of pharmacokinetic parameters of αGAL in breast milk: lactation clearance | Lactation clearance will be estimated as the amount of αGAL excreted over the sampling period divided by the AUC during the sampling period. | Month 1, 3, and 6 | 
| Volume of breast milk | Determination of volume of breast milk sample | Baseline, Month 2, 6, and 12 | 
| Fat content of breast milk | Determination of total fat content in breast milk sample | Baseline, Months 2, 6, and 12 | 
| Protein content of breast milk | Determination of total protein content in breast milk sample | Baseline, Months 2, 6, and 12 | 
| Growth response of infants | Absolute change in growth of infants | Months 1, 2, 3, 6, 12, 18 and Month 24 | 
| Development response of infants | Absolute change in weight of infants | Months 1, 2, 3, 6, 12, 18 and Month 24 | 
| Immunologic response of infants - IgG | Formation or presence of immunoglobulin G (IgG) antibodies to recombinant human α galactosidase A (r-hαGAL) | Baseline, Months 2, 6, and 12 | 
| Immunologic response of infants - IgM | Formation or presence of immunoglobulin M (IgM) antibodies to recombinant human α galactosidase A (r-hαGAL) | Baseline, Months 2, 6, and 12 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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aGAL, GL3, alpha Galactosidase A, rh aGAL, Fabry, Fabrazyme, Lysosomal Storage Disorder, Enzyme Replacement Therapy (ERT)