Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)IVF008NCT01023048
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
A study testing preimplantation diagnosis in people with Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs), run by Natera, Inc. at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages Up to 40 yearsHealthy volunteers can take part
- Conditions the study is for
- Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
- What is being tested?
- preimplantation diagnosis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 56 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2009to Mar 2014
- Phase
- Interventional
- 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 Up to 40 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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.)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Gene Security Network
Redwood City, California, 94063
About this study
Official title: First Use of Parental Support Technology(R) for Single Gene Analysis Plus Aneuploidy Screening in Preimplantation Genetic Diagnosis
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.
- Being tested
- preimplantation diagnosis
- Keywords
- preimplantation diagnosis
- Medical subject headings
- Cystic Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
preimplantation diagnosisOther
Also called Parental Support Technology
genetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia)
| Study group | Role | What they receive |
|---|---|---|
| PGD testing | Experimental | Not described Receives: Other: preimplantation diagnosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis)
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 posted2 Dec 2009 (estimated)
- Study startNov 2009
- Primary completionMar 2014
- Study completionMar 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)Studies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 56 participants (actual)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Matthew Rabinowitz, PhD, Principal investigator, Natera, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01023048
- Sponsor's protocol ID
- IVF008
- Acronym
- IVF008
- Status last verified
- Apr 2014
- First submitted
- 30 Nov 2009
- Last updated
- 2 Apr 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Apr 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- First Use of Parental Support Technology(R) for Single Gene Analysis Plus Aneuploidy Screening in Preimplantation Genetic Diagnosis
- ClinicalTrials.gov ID
- NCT01023048
- Acronym / sponsor ID
- IVF008 / IVF008
- Keywords
- preimplantation diagnosis
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 56 participants (actual)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Study start
- Nov 2009
- Primary completion
- Mar 2014 (actual)
- Study completion
- Mar 2014 (actual)
- First posted
- 2 Dec 2009 (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 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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| PGD testing | Experimental | Other: preimplantation diagnosis |
Who may qualify
- Ages
- Up to 40 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- 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)
Key exclusion criteria (4 listed)
- 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
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 diagnosisAlso: Parental Support Technologygenetic testing on embryos to identify embryos that are affected by a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia) | Other | PGD testing |
Primary outcome
Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis)
Time frame: 10-20 weeks post intervention
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 2 Apr 2014.
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
Natera, Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing preimplantation diagnosis in people with Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs), 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 7 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 2 Apr 2014. 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?
Confirm diagnosis through prenatal diagnosis (CVS or amniocentesis) (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 2 Apr 2014.