Dr. Pullen pointed out that in addition to uncontrollable hunger, the common childhood symptoms of Prader-Willi syndrome suggest that neurological abnormalities may underlie the disorder’s most challenging problems.
In support of her theory, Dr. Pullen and Maria Picone just published in the Journal of Pediatric Pharmacology and Therapeutics a preliminary report documenting benefits in three Prader-Willi children of the drug pitolisant (Wakix).
Pitolisant is licensed in Europe to treat narcolepsy, a neurological sleep disorder. Ms. Picone, founder of TREND Community, a networking platform for those with rare disorders, also has a child with the syndrome. She and Dr. Pullen are co-founders of the Chion Foundation, based in Chicago, which does research in rare diseases.
The children in their report are among 10 with Prader-Willi syndrome who have now tried pitolisant. Nine are said to have experienced significant improvements in quality of life, including more normal sleep patterns, increased daytime alertness and better mental functioning. The children were reported to have shown improvements within days of starting on a low dose of the drug that was gradually increased. Several of the children, including Kian, are featured in a video Dr. Pullen produced to show at a professional conference in Canada last month.
Admittedly, this was not a controlled study; it is subject to parental bias and therefore only suggestive of the reported benefits. Many case reports of apparently successful treatments fail to hold up in clinical trials. But the known biological activity of pitolisant supports the effects observed in the children with Prader-Willi. Dr. Pullen explained that pitolisant is a highly selective drug that acts on histamine 3 (H-3) receptors in the brain, enhancing the activity of neurons that improve wakefulness.
But that’s not all H-3 receptors do. In addition to affecting sleep-wake cycles, H-3 receptors in the brain are involved in regulating hunger, cognition, learning and muscle tone. There are also H-3 receptors in the stomach, gut, pancreas and testes, all of which function abnormally in Prader-Willi children.
Pitolisant, Dr. Pullen said, “seems to normalize systems that are dysregulated in the bodies of individuals with Prader-Willi syndrome.” Currently, the drug is available only in pharmacies in Europe, although with written approval from the Food and Drug Administration, it can be legally imported to the United States by mail order.
Source : Nytimes
