Clinical trial NCT01219517: Validation of the Accuracy of DNA Fingerprinting Using Polar Bodies and Embryonic Cells
Official title: Validation of the Accuracy of DNA Fingerprinting Using Polar Bodies and Embryonic Cells
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: DNA Fingerprinting
Keywords: IVF
embryo biopsy
DNA fingerprinting
SNP
Lead sponsor: Reproductive Medicine Associates of New Jersey
Sponsor class: OTHER
First posted: 2010-10-13
Enrollment: 100
Sex: FEMALE
Minimum age (years): 21
Maximum age (years): 43
Standard ages: ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP

Brief summary: The purpose of this study is to validate the ability to assess the genetic differences (DNA fingerprinting) on polar bodies (excess genetic material given off from the egg) and cells so that this technique may be used in the future to confirm markers of reproductive competence and improve the efficiency and safety of clinical human in vitro fertilization.

Detailed description: Our group has recently validated a technique involving whole genomic amplification followed by single nucleotide polymorphisms (SNP) analysis which allows DNA fingerprinting of single cells. Given that there are more than 3.3 billion base pairs that constitute the human genome, there are approximately 3 million sites where routine variation in the genetic code exists. These SNPs have been identified on average to occur approximately once every 1000 base pairs (bp) and are present on all chromosomes.

100 couples will undergo routine in vitro fertilization (IVF) stimulation, the protocol to be determined by the patient's primary doctor. Following oocyte retrieval and intracytoplasmic sperm injection (ICSI), the first polar body will be biopsied using standard laboratory procedures, and sent for genetic analysis. 24 hours later, the second polar body will be biopsied and sent for genetic analysis. Finally, the embryos will be biopsied prior to transfer and the cell will be sent for gentic analysis. Genetic results are not available prior to transfer and there are be no delays in the treatment schedule as a result of the study. Buccal swabs are collected from infants. SNP profiles are created from the polar body and embryo biopsies which are then compared to the SNP profiles created from the buccal swabs.

Eligibility criteria: Major Inclusion: The following are major inclusion criteria:

1. Maximum of one prior failed IVF treatment cycle
2. Female partner less than 43 years of age
3. Normal day 3 FSH level (\<12 mIU/mL)
4. Basal antral follicle count greater than or equal to 8
5. Ejaculated sperm specimen from the male partner with greater than 100,000 total motile
6. Donor sperm okay if patient is willing to purchase 3 extra vials for DNA testing

Exclusions: The following are exclusion criteria:

1. Diagnosis of chronic anovulation secondary to polycystic ovarian disease
2. Diagnosis of endometrial insufficiency
3. Clinical indication for PGD
4. Testicular biopsy or aspiration procedures to obtain sperm

Primary outcomes:
measure: Validate DNA fingerprinting
timeFrame: After delivery of infant(s)
Secondary outcomes:
Other outcomes:
Locations:
city: Lone Tree
country: United States
facility: Colorado Center for Reproductive Medicine
state: Colorado
city: Norwalk
country: United States
facility: Reproductive Medicine Associates of Connecticut
state: Connecticut
city: Troy
country: United States
facility: Reproductive Medicine Associates of Michigan
state: Michigan
city: Morristown
country: United States
facility: Reproductive Medicine Associates
state: New Jersey
city: Fishkill
country: United States
facility: Reproductive Medicine Associates of Vassar Brothers
state: New York
city: New York
country: United States
facility: Reproductive Medicine Associates of New York
state: New York
Study officials:
affiliation: Reproductive Medicine Associates of New Jersey
name: Richard T Scott, MD
role: PRINCIPAL_INVESTIGATOR
References: