Changemaker in Propionic and Methylmalonic Acidemia: Kimberly Chapman, MD, PhD
To truly understand the intricacies of a rare disease, it takes a rare type of doctor. Get to know the specialists who are at the forefront of rare disease research with our series, Changemakers in Rare.
Dr. Kimberly Chapman, Medical Geneticist
For Kimberly Chapman, the path to rare disease research began with necessity. During her medical residency, she was inspired by a patient who lived with propionic acidemia (PA), a rare metabolic disorder. Dr. Chapman became determined to change the future of treatment for those living with propionic acidemia. i.). Today, she is a medical geneticist based at the Children’s National Hospital in Washington, D.C., and is a leading expert on PA and other mitochondrial diseases and metabolic disorders. She also serves as the director of the mitochondrial disorders clinic at Children’s National. Read on to learn more about Dr. Chapman’s work, and why she feels that clinical trials are a crucial pathway to rare disease therapies.
What inspired you to become a specialist in rare disease?
I was always fascinated by genetics and DNA—my first job was in a laboratory where I studied DNA. I enjoyed the diagnostic process and the satisfaction that I got from taking care of the whole family. During my residency and fellowship in those fields, I took care of a young lady who had propionic acidemia [an inherited condition that prevents the body from breaking down certain elements of proteins and fats], which impacted me greatly. I felt incredibly frustrated by the lack of therapies available, so I went on to study PA—as well as methylmalonic acidemia, a related disorder—in my laboratory.
Many patients are tentative about participating in a clinical trial due to fears about what might be involved in the process. What advice do you have for people who are living with a rare disease and considering taking part in a clinical trial?
We don't know a lot about rare disorders because they are rare. When you write up clinical guidelines that summarize the appropriate treatment for many of those rare disorders, it becomes very apparent that, up to this point, treatment was based on trying something out and seeing if it worked. In more recent times, we’ve been able to identify the best management practices by using natural history studies and seeing whether one therapy or another helped more in real-life situations. We can also figure out typical complications from these therapies. One often doesn't think of natural history studies as clinical trials, but they are. They become the basis for trials that compare a new medicine or intervention to the current standard of care guidelines. If you have a rare disease, our best chance in helping you or future folks with any rare disorder is to learn from your experience as part of a natural history study, and with your help as a participant in a therapeutic trial. If you don't participate, how can we help you and others with the same thing?
What’s one thing you want people to know about your work and that of other rare disease specialists?
I wear a lot of hats—as a basic science researcher, clinical trialist, clinician, and more—but they all have the same aim: to help individuals with rare diseases, and their families, to live better lives. If you ask me a question, I can answer from all of these perspectives. However, there is still a lot that we don't know about rare diseases. Sometimes the answer is, “I don't know at this time.” By participating in clinical trials, people living with rare diseases can help us to give that answer less than we have to now.
Latest From Know Rare
From prenatal uncertainty and postpartum anxiety to therapy, grief, and hope, a mother shares her experience raising a child with a rare disease, navigating the healthcare system, finding community, and learning to embrace a different—but deeply meaningful—path as a parent.
A Danon disease study, led by researcher Dr. Barry Greenberg and published in the New England Journal of Medicine, wins an award! The study focuses on gene therapy as a potential treatment option for Danon disease. The study showed early signs that gene therapy may help the hearts of people with Danon disease.
A poster, presented at the European Hematology Association meeting in June, described a study that looked at tiredness (fatigue) in adults with immune thrombocytopenia (ITP). Researchers wanted to see if fatigue was related to bleeding or other health test results.
Lucky Shanmugan was recently featured in Porter Ranch Living, his local magazine, for Father’s Day: in his interview, Lucky talks about Osteogenesis Imperfecta, a rare genetic or heritable disorder of the connective tissue, and the incredible journey towards his official diagnosis.
Here are 9 things Chris Anselmo wishes someone had told him after his rare disease diagnosis.
A family’s hardships and resilience in finding answers and getting a diagnosis for their child, after numerous tests, brain biopsies, and hospitalizations. And the relief but also grief in finally putting a name to the rare disease that affects their child: BCL11B-related disorder.
The Danon Foundation boldly empowers people living with Danon disease, providing trusted information, resources and support to help navigate life, from diagnosis to treatment.
For many families, caregiving for a child with a rare or medically complex condition is a full-time job. The problem is, it’s a job with no training, no time off, and no clear job description. If you’re looking for the light at the end of the tunnel, you don’t have to search alone. Check out some of Paige’s favorite resources.
For most of celiacs, despite months on a strict GF diet, energy stays low and blood work reveals nutrient deficiencies. The lesson? A "gluten-free" label isn't a health guarantee—just a guarantee you'll pay more.
If you’ve been told you have seronegative NMOSD, there’s nearly 50/50 chance you have a different antibody causing your symptoms –MOG antibody.
Therapy Near Me is a nationwide mental health service based in Australia, providing easy access to psychologists, counsellors, behaviour support practitioners and social workers.
At the annual Kidney Week of the American Society of Nephrologists (ASN), the world’s largest kidney healthcare professional organization, new advances in research were highlighted. Over $35 million has been invested in research with the ASN, and there are many treatments in development for IgA Nephropathy (IgAN), with researchers actively investigating more than 20 different drugs.
When I was diagnosed with celiac disease, I thought avoiding bread and pasta would be enough. I quickly learned that living truly gluten-free is far more complex, and I'm sharing my experience to help newly diagnosed individuals understand what lies ahead.
Retinopathy is an eye problem that many people with Danon disease have. It can cause dark spots in the outer part of the eye, blurry or worse vision, and unusual test results on an eye exam. Sometimes these eye changes show up before heart problems, so an eye check can help find the disease early.
A heartfelt story about a mother who found purpose and strength among the tragedy of losing a child diagnosed with an ultra rare genetic disorder.
Kaya Girl Legacy, Inc. is a Florida-based nonprofit founded in memory of Kaya Humbert, a beautiful baby girl born with Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS), one of 46 known cases worldwide. The foundation is dedicated to empowering families with knowledge about their genetic health and advocating for early access to genetic testing and rare disease awareness.
A prose poem by Jim Kuhn, a rare warrior living with Sarcoidosis, a rare inflammatory disease.
Rare Mom Laura shares how her family’s prep for Halloween turned into a burst of familial love and creativity, as they all worked together in designing and building a costume for Alden, her medically complex son.
Instead of starting with a newly discovered drug compound, PCOR is a type of research that starts by turning to patients and caregivers and asking, What matters most to you? What questions do we want answered? What symptoms do we wish were better managed? What keeps us up at night?
Four years ago, Michael Grivas’ life suddenly changed when he learned that he had Brugada Syndrome, a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy. Learn more about his story.
Fatigue is a very common and often debilitating symptom of IgAN. It is linked to disease progression and reduced kidney function, but other factors like inflammation, anemia, and mental health also play a role. In a 2025 study, the majority of patients with IgAN reported fatigue, and patients with more severe proteinuria and lower kidney filtration rates (eGFR) experienced worse fatigue.
Why is it so hard to accept help? Humans often associate help with weakness and loss of independence and control. However, if we reframe our thoughts, accepting help can be viewed as a form of empowerment: showing vulnerability and trusting someone to help us requires great strength.
There is so much mental load with having a rare disease. Rare Human Lindsay shares there are things she does not care about anymore, as she manages rare disease symptoms, specialists, and clinical trials.
Rare Human Lindsay shares her "silver linings." It's not 'what doesn't kill you makes you stronger,' instead it's what doesn't kill you makes you braver. She shares that she has found deeper connections with others, improved her ability to ask for and accept help, and not been as afraid of the word "no."
Journalist and rare disease advocate Lindsay Guentzel breaks down why clinical trials are a lifeline for the rare disease community. With only 5% of known rare diseases having an FDA-approved therapy, trials often represent the only path toward treatment, progress, and hope.
Lindsay was diagnosed with dermatomyositis a couple of years ago. Since then, she has undergone more than 350 doctor appointments, 250+ hours of infusions, 10+ ER visits, while juggling insurance approvals, rides, and her pain and fatigue.
Rare Human Lindsay is in the midst of her first clinical trial for dermatomyositis, a rare inflammatory disease that primarily affects the skin and muscles. So far, she has learned so much about the process and is eager to share some of her insights with the rare disease community.