Down Syndrome is one of the more dreaded birth defects. This new cure could change that.
For many, the first indication something is wrong comes at the end of the first trimester. A nuchal translucency (NT) screening is given at the dating ultrasound, and the results are abnormal. For older women, and those who have been down this path with previous children, all hope is shattered. For those under the age of 35 — who account for 80% of all incidences of Down Syndrome— the shock and disbelief are overwhelming. Further testing is recommended: amniocentesis, which involves removing a small amount of amniotic fluid. The results are either a source of relief or the catalyst for an impossible choice: whether or not to terminate the pregnancy.
It’s not difficult to understand why a woman carrying a baby with Down Syndrome might choose to terminate her pregnancy; Down Syndrome comes with a range of symptoms, including developmental delay, intellectual disability, early-onset Alzheimer’s Disease, strokes, and impaired motor skills. And yet nearly 99% of people with Down Syndrome are happy with their lives. 97% like who they are, and 96% like how they look. How can a parent be expected to choose between prematurely ending the life of what will most likely be a joyful, compassionate person, and subjecting their baby to a lifetime of challenges and health complications?
Still, 92% of mothers who receive a definitive Down Syndrome diagnosis opt to terminate their pregnancies. That’s not unexpected, considering the disease has no cure. But what if there was a way to remove the neurological complications of Down Syndrome while preserving the characteristic phenotype and joyful, positive outlook?
Infastem Therapeutics is fundamentally changing what it means to have a baby with Down Syndrome. With clinics across the country, Infastem provides all mothers at risk of Down Syndrome with a more proactive post-amnio decision than has ever before been available.
Here’s how it works. Women who are over 40, have had previous children with Down Syndrome, receive positive results on an NT screening, or have any other risk factor for Down Syndrome can undergo amniocentesis at an Infastem clinic. The procedure is similar to what might be done at a hospital, but with a key difference: the amniotic fluid is not only tested but rapidly cultured.
In the case of a positive test result, mothers have the option of having the multipotent stem cells from the amniotic fluid extracted, and injected back into the fetus in a minimally invasive procedure. These stem cells will correct many of the physiological anomalies associated with Down Syndrome, including:
- Smaller-than-average brains
- Irregular neocortical lamination
- Reduced dendritic ramification
- Postnatal cortical pyramidal neuron degeneration
- Diminished synaptic formation
- Astrocyte deficiency
- Oligodendrogliocyte dysfunction
- Vascular dysplasia
- Focal calcification of basal ganglia
By beginning the treatment in utero, Infastem utilizes the elasticity of the fetal brain to correct neurological problems before they ever begin.
After the procedure, regular ultrasound can be used to monitor for brain development and any side effects. Amniotic stem cells, unlike induced pluripotent cells, are non-carcinogenic, so there is no risk of a brain tumor; however, while rare, brain bleeding or other trauma could occur and should be watched for just in case. Ultrasound can also be used to observe progress in the brain’s development. If development delay and anatomical anomalies persist, a second, optional therapy will be available shortly after birth.
This treatment is backed by existing research: in 2016, neural stem cell transplants in a 2-month-old child with Down Syndrome allowed him to begin babbling, crawling, and recognizing his family members’ faces. Even the physiology of his brain more closely resembled that of a healthy toddler. By beginning stem cell transplants in utero, Infastem will be able to achieve even more drastic results.
Why Not Gene Editing?
Although Down Syndrome is caused by a well-understood mutation — an extra copy of Chromosome 21 — given the fact that adults with Down Syndrome are three times happier and five times more satisfied with their appearance than other Americans, it is clear that most people with Down Syndrome don’t wish they had been born without it. By preserving the typical Down Syndrome phenotype and not interfering with the parts of the brain that determine personality, Infastem conserves the positive aspects of Down Syndrome while eliminating the negative health effects.
Infastem plans to open seven clinics in locations across the country: Los Angeles, CA; Denver, CO; Chicago, IL; Boston, MA; Manchester, NH; New York City, NY; and Seattle, WA. These clinics will be open to anyone who wants an amniocentesis. Nearly 11,000 amniocenteses are performed every year between these cities, not to mention the possibility of relatively short travel from elsewhere in the state or region to have the procedure done.
Once FDA approved, amniocentesis, as well as the following treatment if necessary, will be covered by insurance. The total cost for each procedure will be:
- $7,200 for an amniocentesis
- $25,000 for in utero stem cell injections and regular precautionary ultrasound imaging
- $4,000 for an optional secondary postnatal treatment
This makes the total cost of two-part treatment lower than the price of natural birth with no complications at some California hospitals. Although Infastem Therapeutics is a for-profit company, making treatment accessible to those who need it most is a top priority.
This treatment alone has the potential to give the 65,000 fetuses diagnosed with Down Syndrome annually a shot at a healthier, more independent life, and in many cases, a shot at life at all. But it doesn’t have to stop with Down Syndrome. A vast number of birth defects can be mitigated by prenatal stem cell treatment. Infastem plans to treat pathologies ranging from Tay-Sachs to Fragile X Syndrome to Spina Bifida. Nearly 1.3 million babies with birth defects are born in the United States every year, and another 200,000 are aborted. For these babies, an in utero stem cell transfusion could be life-changing.
Pregnancy and parenting aren’t easy, and having a child with a disability only makes them more difficult. When parents think of their future baby, they should be able to think of the joy, laughter, and love they will share, not the constant medical treatments, cognitive difficulties, and frequent injuries resulting from poor motor skills. Infastem gives parents the power to choose a better, healthier life for their child, and takes away the despair that often comes with a Down Syndrome diagnosis.
For too long, a birth defect has been a life sentence. That doesn’t have to be the case. Infastem is part of a future where everyone has the healthy brain they deserve — and where Down Syndrome doesn’t have to be a disadvantage.
For a more in-depth look at how Infastem is changing the game, you can check out this video.