Pregnancy Chances in Classic Galactosemia | NCT02091128

Studies
Pregnancy Chances in Classic Galactosemia

NCT02091128

Sponsor

Maastricht University Medical Center

Status

Completed

Last Update Posted

Sep 13, 2016Estimated

Enrollment

85Actual

Phase

Not provided

Conditions

Galactosemias
Primary Ovarian Insufficiency

Interventions

Not provided

Countries

Netherlands

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2016

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 2014

Primary Completion Date

Sep 2016Actual

Completion Date

Sep 2016Actual

First Submitted Date

Mar 13, 2014

First Submission Date that Met QC Criteria

Mar 17, 2014

First Posted Date

Mar 19, 2014Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 12, 2016

Last Update Posted Date

Sep 13, 2016Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

With this study, in which the incidence of pregnancy in classic galactosemia patients is studied, we aim to provide new insights to improve counselling. Our hypothesis is that the chance that a galactosemic woman with POI becomes pregnant is higher than the 5-10% that has been reported for women with POI due to other causes. Chance of spontaneous pregnancy will be evaluated through semi standardized interview in women with classic galactosemia aged 18 years or older. During the interview, questions will be asked regarding fertility and pregnancy.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

85Actual

Label	Type	Description	Intervention Names
Females with classic galactosemia and POI

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Pregnancy incidence despite POI diagnosis	Will be assessed during semi-standardized interview	day 1

Secondary Outcomes

Measure	Description	Time Frame
Whether women have tried to conceive	Will be assessed during semi-standardized interview	day 1
Time to pregnancy (in case a participant has been pregnant)	Will be assessed during semi-standardized interview

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Classic galactosemia diagnosed by GALT enzyme activity assay or GALT-gene mutation analysis
Eighteen years of age or older
Diagnosed with POI defined as symptoms of hypergonadotrophic hypogonadism measured by serum concentrations of FSH and estradiol
Capable of giving informed consent

Exclusion Criteria:

Any known congenital or acquired disease or disorder negatively affecting pubertal development and/or fertility.

Accepts Healthy Volunteers

Sex

Female

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Academic hospital

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
M. Estela Rubio-Gozalbo, Dr	Maastricht University Medical Center	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Maastricht University Medical Center		Maastricht			Netherlands

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
18419833	Background	Gubbels CS, Land JA, Rubio-Gozalbo ME. Fertility and impact of pregnancies on the mother and child in classic galactosemia. Obstet Gynecol Surv. 2008 May;63(5):334-43. doi: 10.1097/OGX.0b013e31816ff6c5.

ID	Term
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases
D002493	Central Nervous System Diseases

ID	Term
D005693	Galactosemias
D016649	Primary Ovarian Insufficiency