‘It was a patient.’

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

Geneticist and metabolist at Children’s National Medical Center are two of Dr. Chapman's many professional titles. In the clinic, she spends most of her time seeing individuals with methylmalonic acidemia (MMA) and propionic acidemia (PA). In the lab, she conducts research to better understand these diseases. She is an investigator for numerous MMA and PA studies, including HemoShear Therapeutics’ HERO (Help Reduce Organic Acid) Study. 

She also plays a significant role in the natural history study, JUMP (Journey to Understand MMA and PA) study, a collaboration between AllStripes and Hemoshear. The JUMP study aims to (1) understand the diagnosis and medical journeys of patients living with MMA and PA, (2) learn about laboratory testing and medical and dietary interventions of MMA and PA patients, (3) understand MMA and PA symptoms, health complications and other disease-related conditions and (4) track the progression of symptoms and medical treatment as patients grow over time. 

Recently, Dr. Chapman sat down with AllStripes to discuss how she became an expert in MMA and PA and how de-identified data from medical records and the JUMP study will contribute to the MMA and PA research landscape.

‍How did your research journey lead you to MMA and PA?

It was a patient. I took care of this young lady all the way through my fellowship. It became incredibly frustrating because we didn’t have specific therapies for PA and MMA. Over the course of taking care of her for four years, she got sicker and sicker over that time and we had no therapies to improve her outlook.

In that realm, I realized that there were a lot of questions that still remain for patients who have the propionate pathway disorders like MMA and PA. In addition, there were no therapies developed to improve quality of life for patients with the disorders. The goal of the research that I have continued to do is to look for why and how PA and MMA occur. What happens when you have it? Secondly, are there better therapies to take care of this patient population? Finally, what are the things we don’t know about these individuals? About their medical journeys with PA and MMA? That was how I became an expert in these diseases.

How does the JUMP study, a collaboration between AllStripes and HemoShear, fit into the MMA and PA research landscape and what do you hope it accomplishes?

There’s a lot of things we know about PA and MMA and there’s a lot of things we don’t know about PA and MMA. We’ve been gathering information since they were originally described in 1958. However, there are specific pieces of information that have not historically been gathered by previous natural history or registry studies. 

Although there have been small studies that ask questions like how often someone is admitted to the hospital and what their labs look like when they’re admitted, there hasn’t been a big study to look at these things. What JUMP allows us to do is to look at these questions through the scope of medical records to improve the understanding of PA and MMA.

Data from medical records can also help us understand how to design a clinical trial that matters to people with MMA and PA and their caregivers. For example, what are some of the things we didn’t recognize that really impact patients? The other advantage with JUMP is this data then becomes available at a certain time to academics. This would allow us to advance the field and actually take care of our patients more effectively.

How does de-identified data from medical records help advance research?

De-identified medical data is information that is stripped of patients’ names and dates of birth. It can be combined with information from other patients and allows us to see and analyze the pathway of a number of individuals without knowing who they are. It’s probably some of the strongest evidence that we have about what a typical pathway with MMA and PA looks like. It’s easy as a researcher to become biased because you know who someone is, but if I look at data and I don’t know who's attached to it, it allows me to more clearly see the patterns within it.

Is there anything you’d like to share with the community about the current state of MMA and PA clinical guidelines, research or otherwise?

In terms of research or guidelines, I think we should be really excited about where we are in PA and MMA. There are a number of clinical trials going on, we’re gathering all this information and hopefully this will lead to much better therapies. 

Sometimes people ask me why they need to participate in registries. The easy answer is because information from patients becomes the basis on which we make intelligent medical decisions and design clinical guidelines. I feel it's so important as a community to participate in clinical research. It helps us advance therapies which allows me as a physician to take better care of patients and communicate with their caregivers.

How will the JUMP study contribute to the MMA and PA research landscape?

There are different types of registries and natural history studies. The longitudinal MMA and PA studies out of the NIH look incredibly deeply at individuals when they visit NIH. Another type of registry study is what I call “10,000 foot studies”. These are looking at general issues — What’s your problem list? What are the complications? What genotypes do you have? What is the mutation that causes your disease?”

JUMP is really powerful because it looks at medical records and can really understand what happens when you get sick. For example, what are the findings on your MRI during an event, not just when you are healthy? The power of JUMP is that it provides us additional information about the medical experiences of many patients to better understand the impact of these diseases over time, the treatments that patients are receiving and what the outcomes are of these interventions.  

If you have been impacted by MMA or PA, learn more about the benefits of joining AllStripes and the JUMP study by visiting our MMA and PA research program pages.