Prenatal Carrier Screening for Spinal Muscular Atrophy Am... | NCT04859179

Studies
Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women

NCT04859179

Sponsor

Mahidol University

Status

Unknown status

Last Update Posted

Apr 26, 2021Actual

Enrollment

200Estimated

Phase

Not provided

Conditions

Spinal Muscular Atrophy

Interventions

Not provided

Countries

Thailand

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

Apr 2021

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 10, 2021Actual

Primary Completion Date

Mar 2022Estimated

Completion Date

Mar 2022Estimated

First Submitted Date

Mar 26, 2021

First Submission Date that Met QC Criteria

Apr 21, 2021

First Posted Date

Apr 26, 2021Actual

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

Apr 21, 2021

Last Update Posted Date

Apr 26, 2021Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Chayada Tangshewinsirikul, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Mahidol UniversityPrincipal Investigator

Lead Sponsor

Mahidol UniversityOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

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

Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG). However, in Thailand, there are no standard protocol for SMA prenatal carrier screening.

Detailed Description

Spinal muscular atrophy (SMA) is one of the most common neuromuscular autosomal recessive disorders. The incidence is about 1:10,000 livebirths. There are 5 subgroups base on onset of symptoms and clinical severity. Type 1 is the most severe type which age of onset is 6 months old and life expectancy is less than 1-2 years. SMA carrier frequency is approximately 1/40-1/60. Molecular genetic testing to detect copies number of SMN1 gene is possible with as high as 95% detection rate. Since 2008, American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG) recommended SMA preconceptional and prenatal carrier screening in general population. In Thailand, there are no standard protocol for SMA prenatal carrier screening.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

2 Months

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

200Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Rate of acceptance of prenatal carrier screening for spinal muscular atrophy	Rate of acceptance of prenatal carrier screening for spinal muscular atrophy among pregnant women seeking prenatal care	12 months

Secondary Outcomes

Measure	Description	Time Frame
Factors associated rate of acceptance of prenatal carrier screening for spinal muscular atrophy	Factors associated rate of acceptance of prenatal carrier screening for spinal muscular among pregnant women seeking prenatal care	12 months
Copies number of SMN1 and SMN2 genes in pregnant women

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Maternal age > 18 years
Singleton pregnancy
Gestational age ≤ 14 weeks

Exclusion Criteria:

Refuse to participate the research trial

Accepts Healthy Volunteers

Yes

Sex

Female

Sex/Gender Based

Yes

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

All pregnant women who came to antenatal care clinic at Ramathibodi Hospital, Mahidol University

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Chayada Tangshewinsirikul	Contact	0898905444		chayada.tan@mahidol.ac.th
Takol Chareonsirisuthigul	Contact	021677066		takol.cha@mahidol.ac.th

Overall Officials

Name	Affiliation	Role
Chayada Tangshewinsirikul	Ramathibodi Hospital, Mahidol University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Faculty of Medicine, Ramathibodi Hospital, Mahidol University	Recruiting	Ratchathewi	Bangkok	10400	Thailand

Condition Browse Module

MeSH Terms

ID	Term
D009134	Muscular Atrophy, Spinal

Ancestor Terms

ID	Term
D013118	Spinal Cord Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases
D016472	Motor Neuron Disease

Browse Leaves

Not provided

Browse Branches

Not provided