Single Gene DisordersNCT01197872
Clinical Use of Parental Support To Detect Single Gene Mutations
An observational study of Single Gene Disorders, run by Natera, Inc. at 1 site in United States.
Trial summary
Gene Security Network has developed a novel technology called Parental Support (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Single Gene Disorders
- What is being tested?
- Preimplantation Genetic Diagnosis
- How many people
- 240 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2010to Jun 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Couples in which both parents are carriers or one parent is affected by an inherited condition that they are at risk of passing on to their offspring. These couples must be planning to use In Vitro Fertilization (IVF) and Preimplantation Genetic Diagnosis (PGD).
Who may be able to join
- At risk couple (mother and father) who are:
- Able to provide laboratory report from commercial CLIA certified laboratory in the United States or legitimate non-US laboratory confirming presence of disease associated mutation in mother and/or father
- Planning to go through IVF and desiring PGD for the specified mutation
- Planning to pursue Chorionic Villus Sampling (CVS) or Amniocentesis if pregnancy occurs and willing/able to provide CVS/ Amniocentesis sample to GSN for confirmatory testing or provide test results of confirmatory testing performed by an external laboratory.
Who cannot join
- Couples without prior documentation of genetic mutation as specified above
- Couples where the male partner is not willing, able, or available to provide a semen sample
- Unwilling to have CVS/ Amniocentesis
- In certain cases, unavailability of child sample or other suitable family member: Subjects will not be able to enroll in the study if, in the judgment of the research staff, validation is first required on a child (offspring of male and female subject) and there is no child or other family member that is a suitable substitute available for testing.
Trial locations and contacts
1 site in 1 country.
United States1 site
Gene Security Network
Redwood City, California, 94063
About this study
Official title: Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations
Gene Security Network has developed a novel technology called Parental Support (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.
Read the detailed description
This study follows previous IRB approved study IVF008: Clinical Use of Parental Support To Detect Single Gene Mutations , which we will refer to as "Phase I".
The purpose of Phase I was 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, while simultaneously testing these embryos for aneuploidy. The Phase I study consisted of first of its kind PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.
This study, which we will call "Phase II", will allow patients to continue to access testing while clinical data is collected on Phase I. Phase I of the study is nearing enrollment targets (40+ participating couples) and Phase I enrollment will be closed while subjects complete testing and study data is collected from pregnancies and livebirths. Phase II will allow: 1) additional data collection prior to commercial testing launch, 2) eligible patients to participate and receive testing.
- Conditions
- Single Gene Disorders
- Being tested
- Preimplantation Genetic Diagnosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Preimplantation Genetic DiagnosisOther
Also called PGD, In Vitro Fertilization, IVF, Parental Support
Genetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia).
What is being measured
The primary outcome is the main question the study is designed to answer.
Confirmation of diagnosis through prenatal diagnosis
Confirmation of PGS test results through prenatal diagnosis
Measured: 10-20 weeks post intervention
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Sep 2010 (estimated)
- Study startSep 2010
- Primary completionJun 2013
- Study completionJun 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Single Gene DisordersStudies of the same condition, open and under way.
- More trials run by Natera, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 240 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Investigators
- Matthew Rabinowitz, PhD, Principal investigator, CEO, Gene Security Network
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01197872
- Sponsor's protocol ID
- IVF008.5
- Status last verified
- Jul 2013
- First submitted
- 3 Sep 2010
- Last updated
- 16 Jul 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jul 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase II: Clinical Use of Parental Support To Detect Single Gene Mutations
- ClinicalTrials.gov ID
- NCT01197872
- Acronym / sponsor ID
- IVF008.5
- Conditions
- Single Gene Disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 240 participants (estimated)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Study start
- Sep 2010
- Primary completion
- Jun 2013 (actual)
- Study completion
- Jun 2013 (actual)
- First posted
- 9 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Gene Security Network has developed a novel technology called Parental Support (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.
Detailed description
This study follows previous IRB approved study IVF008: Clinical Use of Parental Support To Detect Single Gene Mutations , which we will refer to as "Phase I".
The purpose of Phase I was 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, while simultaneously testing these embryos for aneuploidy. The Phase I study consisted of first of its kind PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.
This study, which we will call "Phase II", will allow patients to continue to access testing while clinical data is collected on Phase I. Phase I of the study is nearing enrollment targets (40+ participating couples) and Phase I enrollment will be closed while subjects complete testing and study data is collected from pregnancies and livebirths. Phase II will allow: 1) additional data collection prior to commercial testing launch, 2) eligible patients to participate and receive testing.
Study design
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Couples in which both parents are carriers or one parent is affected by an inherited condition that they are at risk of passing on to their offspring. These couples must be planning to use In Vitro Fertilization (IVF) and Preimplantation Genetic Diagnosis (PGD).
Key inclusion criteria (4 listed)
- Able to provide laboratory report from commercial CLIA certified laboratory in the United States or legitimate non-US laboratory confirming presence of disease associated mutation in mother and/or father
- Planning to go through IVF and desiring PGD for the specified mutation
- Planning to pursue Chorionic Villus Sampling (CVS) or Amniocentesis if pregnancy occurs and willing/able to provide CVS/ Amniocentesis sample to GSN for confirmatory testing or provide test results of confirmatory testing performed by an external laboratory.
Key exclusion criteria (4 listed)
- Couples without prior documentation of genetic mutation as specified above
- Couples where the male partner is not willing, able, or available to provide a semen sample
- Unwilling to have CVS/ Amniocentesis
- In certain cases, unavailability of child sample or other suitable family member: Subjects will not be able to enroll in the study if, in the judgment of the research staff, validation is first required on a child (offspring of male and female subject) and there is no child or other family member that is a suitable substitute available for testing.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Preimplantation Genetic DiagnosisAlso: PGD, In Vitro Fertilization, IVF, Parental SupportGenetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia). | Other | – |
Primary outcome
Confirmation of diagnosis through prenatal diagnosis
Time frame: 10-20 weeks post intervention
Confirmation of PGS test results through prenatal diagnosis
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2013.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Matthew Rabinowitz, PhD principal investigator
CEO, Gene Security Network
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Single Gene Disorders, run by Natera, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Jul 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Confirmation of diagnosis through prenatal diagnosis (time frame: 10-20 weeks post intervention). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jul 2013.