Now, hundreds of years later, many in New Mexico are still living with this incurable “family curse.”
Dr. Sarah Youssof, a physician in the UNM Department of Neurology, is laying the groundwork for human clinical trials for this rare genetic disease known as oculopharyngeal muscular dystrophy (OPMD).
She is working to develop outcome measures gauging the severity of the disease that can be used to evaluate treatment options.
According to the Centers for Disease Control and Prevention’s website, OPMD is a type of muscular dystrophy that causes degeneration of certain muscles — initially muscles in the eyes and throat — leading to difficulty swallowing and opening the eyelids. OPMD can also cause weakness in the limbs, and symptoms of OPMD typically appear around middle age.
The disease affects approximately 1 in 100,000 people, CDC officials said. However, it’s far less rare in New Mexico than in any other area of the country.
“While it is an extremely rare disease — there are fewer than 150 definite cases in the state — approximately 12 times as many Hispanics in New Mexico have the disease compared to the non-Hispanic population,” Youssof said.
This is a result of what she called the “founder effect,” which may occur when a very small group of people migrate and settle in a new area, as occurred hundreds of years ago in New Mexico.
The isolation of the newly settled population results in a small gene pool that amplifies the occurrence of any genetic diseases in the descendents of these people, she said.
As a result of New Mexico’s high prevalence, UNMH has a unique clinic dedicated specifically to OPMD, which Youssof runs.
Her challenges are not limited the lack of treatment options available; the absence of a set of criteria by which clinicians can evaluate sufferers is stressful as well, she said.
“Why haven’t we done definitive studies of treatments, treatment outcomes? That seems like an obvious thing,” Youssof said. “There’s a lot of preparatory work that needs to be done before you can conduct a study. A very simple thing is, well, what do you measure? This is a disease that is very slow — it develops over years, decades. It affects a lot of different muscles, you know — eyes, throat, limb muscles. So what are you going to look at as your outcome?”
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It can take years to develop and reach a consensus on an appropriate measurement within the medical field. Until that takes place, there is no way to evaluate conclusively whether a treatment option is reducing symptoms or the progression of the disease, she said.
In an effort to work toward a measurable and reliable set of outcomes, she has been conducting a battery of measures on patients at UNMH, searching to see which are most valid and weed out those that are not as informative, she said.
“In science labs, researchers are finding potential treatment options that show promising results in animal models,” Youssof said. “Yet at this point they cannot be evaluated for their potential in treating patients.”
She said that she hopes her research could help lay the groundwork to carry out clinical trials on promising drugs and help take the ideas that are being generated in labs into the clinics.
“Patients will come (to me) and say, ‘well, I heard they gave this to an animal — should I be taking this for my OPMD?’ And the answer is: I don’t know. We’re not at a point yet where we can run this (experimental drug) in patients,” she said. “I can only imagine how frustrating it must sound from a patient’s perspective to hear that.”
Lauren Topper is a freelance reporter at the Daily Lobo. She can be reached at news @dailylobo.com, or on Twitter @lauretopps.
