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An Opportunity for Growth
For years, Albright hereditary osteodystrophy lurked in the shadows of the developmental disorder world, obscure and unrecognizable to many physicians. Affecting an estimated fewer than 200,000 patients across the United States, the disease was virtually as difficult to diagnose as it was to treat, often leaving patients uncertain of their futures and how to lead healthy, quality lives.
Albright syndrome prevents the body from recognizing and responding to certain hormones, particularly parathyroid hormone, which regulates the body’s absorption and use of calcium and phosphorus, and, consequently, bone growth and formation. One of the confounding aspects of the disease is that, for much of their childhood, patients appear to grow absolutely fine. Then, suddenly, their bones prematurely fuse, and, before they can experience the critical growth spurt that accompanies puberty, they stop growing entirely. For men this often means an average height of around five feet, while women average 4-feet-9 inches. Meanwhile, the sheer rarity of the disease causes a disparity in research funds, which for many years has rendered unlikely the development of any sort of targeted pharmaceutical approach to treat Albright syndrome.
But then came Emily Germain-Lee and, with her, research for a treatment that could help many of these patients to overcome some of the complications associated with the disease and live healthier and happier lives because of it.
At the Albright Clinic at Kennedy Krieger Institute, Dr. Germain-Lee treats the world’s largest group of pediatric and adult Albright hereditary osteodystrophy patients, providing the most comprehensive care available to patients with this disorder, which is augmented by Kennedy Krieger’s breadth of experience and expertise in diagnosing and treating developmental disorders and conditions associated with them. Staffed by a multidisciplinary team that includes experts in endocrinology, orthopedics, genetic counseling, neurology, physical and occupational therapy and other specialties, the Albright Clinic also provides patients the opportunity to participate in several clinical research trials. It’s an impressive offering, considering the rarity of the disease and the number of physicians experienced in treating it.
Shortened height is only one of the challenges these patients face. Obesity, hormonal abnormalities, cognitive problems, learning disabilities, obsessive compulsive disorder, autism—all are risks and conditions common in patients with Albright syndrome. Then there are the often painful bony deposits that form under the skin and the limb malformations, such as short fingers, that the disease causes. Unfortunately, like so many developmental disorders, there is no cure and just treating the symptoms and complications, which are often rare and complicated in and of themselves, can prove difficult for physicians.
The foundation of Germain-Lee’s Albright work is grounded in a genetic abnormality, found in about two-thirds of her patients, which leads to a deficiency of human growth hormone (HGH). Secreted by the brain’s pituitary gland, growth hormone is responsible for stimulating cell reproduction, growth, and regeneration throughout the body, including a person’s bones. In 2003, Germain-Lee discovered that in patients with this condition, their inability to effectively process hormonal signaling disrupts their body’s ability to make growth hormone, ultimately contributing to their short stature obesity. “These patients get something of a double whammy,” she explains. “They end up short not only because a genetic defect causes their bones to fuse earlier, but also because they lack the growth hormone needed to encourage continued growth.”
And so Germain-Lee embarked on an FDA-sponsored clinical trial, in which she administers HGH to Albright patients deficient in the hormone, believing that perhaps such a treatment could improve their height and weight.
So far, the results are promising.
“Indeed, over the many years I’ve been doing this, I’ve found that it does increase their final heights, and I’ve alsoseen decreases in their weights and improvements in their lipid parameters,” Germain-Lee says. The trial, she continues, is ongoing. She has now initiated the second phase of this trial for growth hormone-sufficient Albright children. “I get patients from all over the world coming here to Baltimore seeking help in treating the problems caused by a poor response to hormones.”
For years, treating those problems typically included managing calcium and phosphorus levels, orthopedic therapies, nutritional management, and addressing cognitive and behavioral issues. But there were no options for correcting the patients’ height or preventing any of the numerous other problems they experience. However, Germain-Lee’s work with growth hormone is the starting point in the search for promising treatments.
“So far, it looks like this therapy is having a real impact on height,” she says. “My overall goal is to improve their quality of life, because when you’re as short as many of these individuals are, it has a big effect on your self-esteem. Changing that can have a big impact on people’s confidence and well-being.” Conducting the growth hormone trial at Kennedy Krieger Institute, she says, with its incredible resources for her patients’ cognitive, developmental, and skeletal problems, has been invaluable for her patients and their families.