In an interview with Healio, Dr. Jennifer Miller says that there are signs of hope for improved outcomes in patients living with Prader-Willi syndrome, a rare genetic disorder. Dr. Miller has been treating patients with the syndrome for two decades. Continued research into new treatments for the disorder has led to significant progress and improvements in the understanding of Prader-Willi syndrome in the scientific community and beyond.
About Prader-Willi Syndrome (PWS)
Prader-Willi syndrome is a genetic disorder which is most characterized by childhood obesity that results from an abnormal, insatiable appetite. This obesity often continues into adulthood. In most cases, the syndrome is caused by the deletion of a certain section of chromosome 15. In about a quarter of cases, the patient receives two copies of chromosome 15 from the mother but gets none from the father. This syndrome is not considered heritable, as the genetic changes occur during gestation. Symptoms of Prader-Willi syndrome include slow development, poor feeding, muscle weakness, obesity, over-eating, abnormal flexibility, scoliosis, sleeping excessively, speech delays, intellectual disability, poor muscle tone, delayed puberty, and infertility. Excessive eating also leads to elevated risk of diabetes. Management may include physical, occupational, and speech therapy, limiting access to food, and injections of growth hormone (in child patients only). To learn more about Prader-Willi syndrome, click here.
Hope for the Future
When it comes to current therapies for Prader-Willi syndrome, Dr. Miller says that treatment with growth hormone in children starting in the first few months of life has been demonstrated to have a significant benefit. Improvements primarily involve various developmental aspects, such as speech, cognition, and body composition. Unfortunately, growth hormone can’t currently be used in adults even though it could potentially be useful at certain doses.
Common treatments for other forms of obesity often fail to have an impact on this syndrome, and so far the disorder has proven difficult to treat. However, Miller continues to have optimism for the future. She says that there are three phase 3 studies running for Prader-Willi syndrome at this juncture. All of these are testing drugs that could potentially curb the excessive hunger that characterizes the disorder. If one of these succeeds, it could be a game changer.
Early in her career, Dr. Miller would often advise parents to consider a group home living situation for the patient once they reached adult age, but a real possibility could soon exist for patients to one day live independently.