Fabry's Disease and Pregnancy (PREFAB)

NCT02582294 | Terminated

• 1 other identifier: OLE_2015_4
• Study Type: observational
• Target: 12
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry's Disease; Pregnancy

Outcome Measures

Primary Outcomes (1)

• Proportion of Fabry's disease patients having had an epidural block in childbirth.

  The duration of the interview for this study with women with Fabry disease's will be one hour

Interventions

Questionnaire OTHER

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Fabry's disease patients having had at least one childbirth

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Groupe Hospitalier Diaconesses Croix Saint-Simon: lead

Study Sites (1)

Groupe hospitalier Diaconesses Croix Saint Simon

Paris, Île-de-France Region, 75020, France

Location

MeSH Terms

Conditions

Fabry Disease

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 15, 2015
• First Posted: October 21, 2015
• Study Start: October 1, 2015
• Primary Completion: June 1, 2018
• Study Completion: June 1, 2018
• Last Updated: February 15, 2019

Record last verified: 2019-02

Locations

FR (1)