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Fabry's Disease and Pregnancy (PREFAB) (PREFAB)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02582294
Recruitment Status : Terminated (Difficulty in patient recruitment)
First Posted : October 21, 2015
Last Update Posted : February 15, 2019
Information provided by (Responsible Party):
Groupe Hospitalier Diaconesses Croix Saint-Simon

Brief Summary:

Fabry's disease is a progressive systemic disease X-linked which combines neurological (Fabry's pain crises), dermatologic (angiokeratomas), renal (renal failure), cardiovascular (hypertrophic cardiomyopathy, valvular disease, conduction disorder, coronary heart disease) and cerebral vascular (stroke) symptoms .

It is a glycosphingolipid metabolism disorder due to deficient or absent activity of the alpha-galactosidase A, causing accumulation of globotriaosylceramide in the lysosomes.

The incidence is estimated being 1/40 000. Some patients suffering from Fabry's disease today are of childbearing age and their multidisciplinary care (by neurologists, obstetricians and anesthetists) raises several questions.

About the anesthetic, the question of epidural block is debated in patients with neurological diseases and recommendations are not unequivocal.

Indeed one of the problems of the management in those conditions is the potential worsening of the disease because of the anesthetic procedure. In addition, the possibility of an antiplatelet and / or an anticoagulant treatment in these patients may also contre-indicate an epidural block.

The rate of epidural block achieved in patients with Fabry's disease is not currently known. Moreover, only sparse data on pregnancy outcomes in these patients are reported.

Condition or disease Intervention/treatment
Fabry's Disease Pregnancy Other: Questionnaire

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Study Type : Observational
Actual Enrollment : 12 participants
Observational Model: Other
Time Perspective: Retrospective
Official Title: Description of Obstetrical Care, Mainly Anesthesic, in Patients With Fabry's Disease
Actual Study Start Date : October 2015
Actual Primary Completion Date : June 1, 2018
Actual Study Completion Date : June 1, 2018

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Proportion of Fabry's disease patients having had an epidural block in childbirth. [ Time Frame: The duration of the interview for this study with women with Fabry disease's will be one hour ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 45 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Fabry's disease patients having had at least one childbirth

Inclusion Criteria:

  • Fabry's disease patients, aged 18 years or more, having had at least one childbirth

Exclusion Criteria:

  • Patient under a legal protection procedure
  • Patient denying to participate to the study
  • Lack of affiliation to a social security system

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02582294

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Groupe hospitalier Diaconesses Croix Saint Simon
Paris, Ile De France, France, 75020
Sponsors and Collaborators
Groupe Hospitalier Diaconesses Croix Saint-Simon

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Responsible Party: Groupe Hospitalier Diaconesses Croix Saint-Simon Identifier: NCT02582294     History of Changes
Other Study ID Numbers: OLE_2015_4
First Posted: October 21, 2015    Key Record Dates
Last Update Posted: February 15, 2019
Last Verified: February 2019

Additional relevant MeSH terms:
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Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders