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Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD) (IVF008)

Primary Purpose

Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)

Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
preimplantation diagnosis
Sponsored by
Natera, Inc.
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs) focused on measuring preimplantation diagnosis

Eligibility Criteria

undefined - 40 Years (Child, Adult)All SexesAccepts Healthy Volunteers

Inclusion Criteria:

  • couple (mother and father)at risk to have a child with a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia)
  • Able to provide laboratory report from commercial CLIA certified laboratory confirming presence of disease associated mutation in mother and/or father
  • couple planning to go through IVF and desiring PGD for the specified mutation
  • Father (male) willing and able to provide sperm sample
  • Maternal (female's) age <40 years (e.g., 39 or younger)
  • CVS/Amnio planned once the pregnancy occurs; willing/able to provide amnio/cvs sample for confirmatory testing or provide test results of confirmatory testing performed by an external CLIA certified laboratory.
  • FSH <10 (FSH = Follicle Stimulating Hormone. FSH is an indicator of egg quality and rough predictor of egg stimulation success. FSH is routinely measured by the IVF center prior to beginning an IVF cycle.)

Exclusion Criteria:

  • Couples without prior documentation of genetic mutation as specified above
  • Adult couples where the male partner is not willing, able, or available to provide a semen sample.
  • Maternal age >=40 years
  • Couple unwilling to have amnio/cvs

Sites / Locations

  • Gene Security Network

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

PGD testing

Arm Description

Outcomes

Primary Outcome Measures

Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis)

Secondary Outcome Measures

Full Information

First Posted
November 30, 2009
Last Updated
April 1, 2014
Sponsor
Natera, Inc.
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1. Study Identification

Unique Protocol Identification Number
NCT01023048
Brief Title
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
Acronym
IVF008
Official Title
First Use of Parental Support Technology(R) for Single Gene Analysis Plus Aneuploidy Screening in Preimplantation Genetic Diagnosis
Study Type
Interventional

2. Study Status

Record Verification Date
April 2014
Overall Recruitment Status
Completed
Study Start Date
November 2009 (undefined)
Primary Completion Date
March 2014 (Actual)
Study Completion Date
March 2014 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Natera, Inc.

4. Oversight

Data Monitoring Committee
No

5. Study Description

Brief Summary
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF). This technology allows IVF physicians to identify embryos, prior to transfer to the uterus, which have the best chance of developing into healthy children. The purpose of this study is to validate clinical use of PS to detect specific genetic mutation(s) known to cause severe inheritable diseases in embryos produced by at-risk couples. This may be done while simultaneously testing these embryos for aneuploidy. This study will allow for first of its kind commercial PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Keywords
preimplantation diagnosis

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
56 (Actual)

8. Arms, Groups, and Interventions

Arm Title
PGD testing
Arm Type
Experimental
Intervention Type
Other
Intervention Name(s)
preimplantation diagnosis
Other Intervention Name(s)
Parental Support Technology
Intervention Description
genetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia)
Primary Outcome Measure Information:
Title
Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis)
Time Frame
10-20 weeks post intervention

10. Eligibility

Sex
All
Maximum Age & Unit of Time
40 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria: couple (mother and father)at risk to have a child with a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia) Able to provide laboratory report from commercial CLIA certified laboratory confirming presence of disease associated mutation in mother and/or father couple planning to go through IVF and desiring PGD for the specified mutation Father (male) willing and able to provide sperm sample Maternal (female's) age <40 years (e.g., 39 or younger) CVS/Amnio planned once the pregnancy occurs; willing/able to provide amnio/cvs sample for confirmatory testing or provide test results of confirmatory testing performed by an external CLIA certified laboratory. FSH <10 (FSH = Follicle Stimulating Hormone. FSH is an indicator of egg quality and rough predictor of egg stimulation success. FSH is routinely measured by the IVF center prior to beginning an IVF cycle.) Exclusion Criteria: Couples without prior documentation of genetic mutation as specified above Adult couples where the male partner is not willing, able, or available to provide a semen sample. Maternal age >=40 years Couple unwilling to have amnio/cvs
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Matthew Rabinowitz, PhD
Organizational Affiliation
Natera, Inc.
Official's Role
Principal Investigator
Facility Information:
Facility Name
Gene Security Network
City
Redwood City
State/Province
California
ZIP/Postal Code
94063
Country
United States

12. IPD Sharing Statement

Learn more about this trial

Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)

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