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Congress is preventing people with mitochondrial diseases from having healthy babies

Congress is preventing people with mitochondrial diseases from having healthy babies

This month marks the fortieth birthday of Louise Brown, the first person conceived using in vitro fertilization (IVF). Brown’s birth was greeted by many with horror, anger and fear of what was, in 1978, perceived to be a gross perversion of nature. Now that IVF has led to the birth of more than eight million babies, it is recognized as one of the great triumphs of modern medicine.  You might think the rapid adoption of IVF technology that has helped build so many healthy families would have eliminated any aversion to advancing the science and medicine of assisted reproduction—but you would be wrong.

Kristelle and Evan were ecstatic when they had their first child, a baby boy named Noah. When they brought Noah home from the hospital, they discovered he was not a great feeder, but that isn’t uncommon. Two weeks later, however, Noah slept constantly and was unable to feed enough to maintain his weight.  Kristelle and Evan brought Noah to their pediatrician, who sent them to the ER.  After Noah endured weeks of testing and progressive physical decline, doctors determined he suffered from a mitochondrial disease. 

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Mitochondria are tiny organelles inside all our cells that produce the energy that cells needs to function. We inherit mitochondria from our mothers: eggs have hundreds of thousands of mitochondria whereas sperm contribute essentially none.  Mitochondrial diseases can be caused by a mutation in one of the few genes contained in the mitochondria (instead of the cell nucleus) that prevents their normal function. Though rare, affecting about 1 in 5,000 children, mitochondrial diseases can be unusually cruel and varied, with symptoms ranging from visual loss, seizures, progressive dementia, respiratory failure, and death. Tragically, there is no cure or treatment for mitochondrial diseases.

 

Noah’s deterioration was relentless; he become increasingly lethargic, had seizures, required a respirator to breathe, and experienced episodes of cardiac arrest followed by resuscitation. Ultimately, at 11 weeks old, cheerful, smiley Noah passed.  Despite their pain and loss, Kristelle and Evan desperately want another child, but, since all of Kristelle’s eggs carry the abnormal mitochondria, there is a high risk that their next child would face a similar fate.  

An experimental procedure called mitochondrial replacement therapy (MRT) has been developed to help people who are carriers for mitochondrial diseases have healthy children. Conceptually, MRT is quite simple: the nucleus of an egg containing diseased mitochondria is removed and inserted into a donor egg with normal mitochondria whose nucleus has been removed.  The resulting egg has all the same genetic material for inherited traits, such as hair and eye color, as the original egg did, but its mitochondria are from the healthy egg. The new egg is then fertilized with sperm and the resulting embryo is transferred into the uterus, allowing an expectant mother to have a genetically-related child unaffected by the mitochondrial disease she carries.   

Forty years later, the same anxiety incited by the advent of IVF grips many who encounter MRT. Critics and skeptics once again use the rhetoric that fertility doctors and researchers are “playing God” and creating the “unnatural”—as though any medical intervention can be regarded as “natural.” They construct similar false, but compelling, imagery: whereas critics of IVF referred to Brown as a “test-tube baby,” MRT is said to produce “three-parent babies”—even though the genetic information carried by mitochondria (and thus provided to MRT babies from a donor) accounts for less than 0.2 percent of total DNA. Children born from MRT are no more “three-parent babies” than those who have received kidney transplants are “four-parent people.”

Irrational rejection of the life-changing possibilities provided by MRT has led the U.S. Congress to prevent people like Kristelle and Evan from having healthy children. MRT has, in fact, been successfully performed internationally, and we at Columbia University’s Fertility Center have produced embryos using MRT following approved research protocols. However, because of Congress’s action, we have been unable to transfer these healthy embryos to the uteruses of hopeful mothers. It is not a technical or scientific hurdle that stands in our way, but rather Congressional action.

Normally, researchers studying new medical treatments submit applications for novel treatments to the FDA, which determines whether and how a clinical trial may proceed. In an advisory updated in March, the FDA determined that “the clinical use of MRT in the United States falls within the FDA’s regulatory authority.”  The advisory notes, however, that, “since December 2015, Congress has included provisions in annual federal appropriations laws that prohibit FDA from accepting applications for clinical research using MRT.” Consequently, as the advisory concludes, “clinical research using MRT in humans cannot legally proceed in the United States.”

As with IVF forty years ago and with any new medical advancement, there are risks and unknowns associated with MRT. Additionally, there are important social, ethical, and policy concerns regarding technology involving embryos, specifically. But, it would seem to me that the solution to these challenges cannot be to block any consideration of the technology. Had a similar obstructionist approach prevented the development of IVF, millions of healthy people would never have been born and their parents would have been deprived of the joys of parenthood.  

All Kristelle and Evan want is a healthy baby. MRT can help them and the tens of thousands of people suffering from mitochondrial diseases build the families of their dreams. Congress just needs to get out of the way and let the FDA do its job.

Dr. Zev Williams is the Chief of the Division of Reproductive Endocrinology and Infertility at Columbia University’s Irving Medical Center. He is a nationally-recognized clinician and researcher in the area of recurrent pregnancy loss and infertility.