The National Institutes of Health (NIH) is the primary medical research institution in the United States. The NIH is one of several public health institutions, like the Food and Drug Administration (FDA) or Center for Disease Control (CDC), that make up the larger, federally-administered Department of Health and Human Services (HHS).
Unlike its perhaps more famous cousin, the CDC, which is primarily concerned with the identification and prevention of transmissible diseases, the National Institutes of Health are concerned with the research and cataloguing of all diseases or medical conditions facing any American. This makes them the primary research organ in the federal government for things like genetic and chronic disease.
For a number of years now, the NIH has been working with methylmalonic acidemia (MMA) patients, as well as their parents, to advance research for the disease and pave the way for future treatments.
About Methylmalonic Acidemia
Methylmalonic acidemia is an extremely rare genetically inherited disorder affecting somewhere between 1 in 50,000 or 100,000 people. It leaves the body unable to process proteins and fats effectively. It seems to be linked to mutations in the MMUT, MMAA, MMAB, and MCEE genes, which vary in the strength of their connections to the disease.
Most MMA Cases (about 60% of them) are linked to mutations on the MMUT gene. This gene is responsible for coding the production of an enzyme called methylmalonyl CoA mutase, which plays in important role in breaking down several amino acids (the building blocks of protein), fats, and cholesterol. The MMUT mutation is also usually the most serious – individuals with this mutation may produce enzymes that are unable to bind with their targeted molecules at all, which means the molecules are never broken down.
The results can vary between mild and life-threatening. In infancy, when the condition is usually first observed, MMA can cause vomiting events, mental development delay, and weak muscle tone. Individuals who survive early childhood may go on to develop other feeding problems, intellectual disabilities, or chronic kidney disease. Without adequate treatment, MMA can spiral out of control and even lead to death.
About the National Institutes’ of Health Research
Sourcing new treatments for MMA can be particularly difficult due to the unique nature of each case. Dr. Charles Venditti with the National Human Genome Research Institute (a sub-division of the NIH) is working with one of the largest groups of MMA patients yet assembled. He and his team and hope to research MMA on the molecular level, and hopefully develop new treatments along the way.
Many people who survive to experience advanced forms of the illness will require significant amounts of medical intervention, such as the extremely physically demanding liver and kidney transplants that are commonplace among those living with the condition.
In the United States, every baby born in the hospital is to be screened for MMA. That can yield a lot of data about who does and doesn’t develop the condition.
One form of MMA, called cobalamin C deficiency (cblC), can cause serious health problems like loss of vision or developmental delay if not addressed early and aggressively. However, if the illness is detected early enough, cblC patients can receive vitamin B-12 injections that can help offset some of their symptoms. Some families from abroad, including several from Brazil, come to the United States’ National Institutes of Health for assistance with diverse cases of MMA. The work of Dr. Chuck Venditti is particularly attractive to some.
His team is working on the implementation of several different kinds of gene therapy for MMA. They include messenger RNA therapy (mRNA therapy), adeno-associated viral gene therapy (AAVE), and finally, perhaps the most provocatively, gene editing. These are all therapies that aim to remedy the various genetic hiccups that can cause MMA. They would avoid the often intensely invasive surgeries that can characterize chronic diseases like MMA, and similar techniques have already been used to significantly improve the quality of life in patients with other chronic illnesses. Dr. Venditti hopes that these gene therapies will prove as effective in treating the various types of MMA as they have with other serious medical conditions.
Venditti and his team at the National Institutes of Health emphasize that the research they conduct is a collaborative effort. In their words, the research couldn’t continue without the bold efforts of those in the rare disease community. Scientists only represent 50% of the team fighting for advances in medical research.
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