How You Can Help Research into ACDMPV
A previous proposal submitted to the National Institutes of Health (NIH) in the USA by Baylor College of Medicine in Houston, Texas, USA for ACDMPV research was not funded primarily because the NIH felt there was an insufficient amount of genetic material available at that time for research. In order to enhance the chances for successful research grants and improve the outcomes of current and future studies, the ACDA encourages families to submit DNA and tissue samples to the ACDMPV research team based at Baylor. Every sample may be critical to advance our knowledge of the disease as one individual sample can provide unique insights in furtherance of ACDMPV research. Thankfully, Baylor subsequently received two multiyear research grants from the NIH in 2010 and 2017. Baylor has also received several annual seed grants from NORD for ACDMPV research. Please contact Dr. Pawel Stankiewicz at Baylor to participate in the study.

Please see our grant summary page for additional information on ACDMPV research grants: https://acdassociation.org/research-grants/.

How Can You Participate In Research? What Tests Are Available? What Do You Need To Do?
The following sections provide information on how to participate in genetic testing for ACDMPV. Currently, there is an ongoing ACDMPV research study underway at Baylor, as further set forth here. The information below is made available so that parents can obtain additional information about their child’s case, further ACDMPV research by participating in the study and/or obtain genetic testing.

What is the purpose of genetic testing?
Many infants with ACDMPV have a detectable genetic abnormality in or around the FOXF1 gene. Testing for this in the infant and parents can help to determine whether the parents carry the genetic abnormality. This would have important consequences for any future pregnancies. Even without a detectable genetic abnormality in the parents’ blood, it’s possible that future infants could be affected by ACDMPV (see ACDA information on the genetics of ACDMPV) and knowing the genetic abnormality in one child allows prenatal testing to be performed in future pregnancies, if wanted.

Do I need to sign a consent form to participate in study?
Yes.

Where can I get this form?
Baylor College of Medicine (see contact details below).

How exactly do I participate?
Tissue samples, blood samples, autopsy results, etc. Postmortem genetic testing of the FOXF1 gene in the infant’s and parents’ blood samples will be performed on a research basis after the initial ACDMPV diagnosis is verified by an experienced pathologist at Texas Children’s Hospital in Texas Medical Center in Houston.
First it’s important to speak to your pathologist or physician so that your infant’s samples can be sent to Texas. Your medical team should be able to co-ordinate this for you. The samples and information required are:

1. A lung biopsy or autopsy sample of lung tissue. These can be sent as slides (stained or unstained) and/or formalin fixed paraffin embedded (FFPE) lung tissue block;
2. The local pathology report of the lung biopsy or autopsy, if available;
3. Your infant’s blood (if stored in +4C fridge) or isolated blood DNA (blood sample containing only genetic material) in EDTA tubes (purple top) if available. If a blood sample is not available frozen lung tissue can also be used to obtain DNA.
4. Completed and signed consent forms.

What genetic tests will be performed?
Analysis of the FOXF1 gene for point mutations will be performed first. If this is negative, Array Comparative Genomic Hybridization (CGH) studies of chromosome 16 in the FOXF1 region will be performed to look for deletions of genetic material around the FOXF1 gene. If both of these tests are negative whole exome sequencing using next generation sequencing can be considered. This studies all of the genetic material carried in an individual’s blood cells.

Who do I contact? Where should it be sent?
Pawel Stankiewicz, M.D., Ph.D.
Associate Professor
Dept of Molecular & Human Genetics
Baylor College of Medicine
One Baylor Plaza, Rm ABBR-R809
Houston TX, 77030
USA
Email: pawels@bcm.edu
Tel: (+1) 713 798-5370

Do I have to pay for this?
No, the study will be performed in Dr. Stankiewicz’s laboratory free of charge.

What is the process for sending family member blood samples?
Together with the infant’s sample, you can include the blood samples from the parents as fresh whole blood or isolated DNA samples in EDTA tubes (purple top). Alternatively, you can send them later on. Parental testing on a research basis is also free-of-charge. If a gene deletion is detected in the infant’s DNA sample, Dr. Stankiewicz’s laboratory will attempt to exclude low-level somatic mosaicism in the parental DNA samples (this is where a person carries more than one variation of genetic material in their body) for more accurate information on the risk of having another infant with ACDMPV.

What if my baby is alive?
Clinical genetic testing is available in the CLIA-certified Medical Genetic Laboratories (MGL) also in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM) in Houston, Texas. Please contact: https://www.bcm.edu/research/medical-genetics-labs// This study is performed on a fee-for service basis.

What about prenatal testing? Is it available? 
MGL at BCM also offers prenatal testing of FOXF1 mutations and genomic deletions on a fee-for service basis.

Contact name for prenatal testing:
Pawel Stankiewicz, M.D., Ph.D.

Please check the website for a list of FOXF1 – Related Disorders tests available at Baylor Genetics (Click the blue dot to view test details. Red dot = current test.)