The article and the video that it is linked to provide hope--something that is in short supply these days. I wonder if H-3 has anything to do with other disorders of appetite and eating.
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The title to this article is about treating uncontrollable hunger. However, Pitolisant was used in this study mostly to improve cognitive functioning and wakefulness in patients with PWS. Is the title a bit misleading or have there been studies using Pitolisant that have shown its ability to decrease hyperphagia? If the article is meant to highlight a treatment for uncontrolled appetite, then it leaves the reader wondering if the focus is on growth hormone and a certain type of eating regimen. Is growth hormone and a certain type of diet supposed to be the most newsworthy part of the story? The title of the article and the contents therein are confusing to me. Please help me clarify the disparity between the NYT article title and the results of the Pitolisant study, thank you!
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@Eugenie Hsu
"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.” "
The growth hormone shots were given to Dr. Pullen's son so he achieved normal growth and stature. Short stature is a hallmark of the genetic disorder. And her focus on healthy fats and low carbs are what helped her son's neurological development and stabilize his blood sugar. People with Prader-Wili don't do well on a lot of carbs - none of do really. But she noticed he did better with restricted carbs. All of this is noteworthy for Prader-Wili syndrome.
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Thank you for running this article. I have a 20 year old son with Prader-Willi Syndrome, and we have tried so many different medicines and treatments over the years, hoping for something that could help with the many components of this syndrome. The hunger, the behavior, the compulsions, the aggression, the anxiety, the aggression -- its very hard. We have participated in many drug trials and have followed Dr. Pullen on this journey with pitolisant. It does sound so promising. We are so hopeful that this could make a difference in our lives. Unfortunately, without FDA approval, our insurance will not pay. We are stuck waiting. Again.
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This is the kind of medical research (and of parenting) that augurs well for the future of the human race. Intelligent people steadily working to ease suffering, to learn, and to share their knowledge.
My hunch is that well-run and accountable organizations that investigate rare diseases could use our financial support. Something many of us should think about when planning our charitable giving.
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@W. H. Post What a kind post. Thank you. This is the type of work that Chion Foundation strives to do.
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Fascinating article! As the parent of a young adult with PWS, I will be following the upcoming trials associated with this drug protocol. Thanks for your diligence, Doctors!
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Is it possible for someone to have this disorder and not be diagnosed, especially someone now in her 60s?
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@DLP My sister had this syndrome and was only diagnosed in her 20s, back in the 1980s, having been misdiagnosed with other syndromes, including the catch-all used in the 1960s: "mentally retarded." A person in her 60s may not have been diagnosed with Prader-Willi -- we only found out about it because of a TV news magazine feature on in -- but she probably would have been diagnosed with other forms of intellectual and/or developmental disability because of the issues with muscle coordination and the others described in this article. As a syndrome it goes beyond an insatiable appetite.
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Thank you so much for recognizing the behavioral and cognitive challenges of PWS that are often more significant than the hyperphagia. Too often, PWS is viewed solely as "the hunger syndrome." This article is fascinating. It presents strategies to enhance and support cognitive functions, looking beyond the physiological hunger pangs.
We have an 11-year-old son with very mild PWS and mild learning differences. He doesn't experience hyperphagia but does have an intense interest in food. About 3 years ago, he decided to become a vegetarian for ethical reasons. This shift enabled our son to shed pounds, maintain great health, but still feel very satisfied. Today, he is slim and able to learn at near grade level. In addition to the wonderful insight in this article about packing the diet with good fats such as avocados and egg yolks, I would encourage PWS carers to consider a well-rounded vegetarian diet filled with nuts, legumes, tofu, and beans.
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Thank you for increasing awareness of the syndrome.
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I have a 12 year old grandson with PW syndrome. I was shocked to read in the article that fathers with the syndrome will pass it on to their children. Aren't these men sterile? They do not develop normally sexually, and years ago i recall reading of (only) two pregnancies in women with PW. And it was considered very rare.
At any rate, if there is something promising in the way of medicine, does the international medical community know about it? There's a wonderful multi-disciplinary clinic for the syndrome here, how can I get the relevant info to the doctors there? Thanks!!
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@Arlene Bar-Yosef
Arlene, you are correct. This is an error. The actual information is that if the material missing on Chromosome 15 in the specific area of interest is missing from the 15 that comes from the father, the child is affected with PWS. If the same error comes from the 15 from the mother, the child has Angelman Syndrome with severe intellectual disability, certain characteristic behaviors and physical features, and seizures. These children (and adults) do not have the same disease.
The parent does not have the deletion; the deletion occurs when the gamete is being formed .
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I feel a tremendous amount of sympathy for individuals born with this disorder, and huge respect for the parents of those children. I'm happy to see there is work being done to help them, and that an existing drug shows promise.
That said, I also found mention of many of the symptoms, especially those related to the faulty H3 receptor, to be absolutely fascinating. I wonder if this receptor is being focused on in any studies with regards to Bipolar Spectrum Disorder?
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Wonderful article. Kudos to Dr Pullman and Dr Tan for the wonderful work they are doing
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RE compulsive smoking- nicotine (although highly addictive, and dangerous as inhaled smoke) is a potent neurological drug. It's an appetite suppressant, anti-ADHD drug, anti-anxiety and antidepressant.
Of course it's also at least as addictive as cocaine, and inhaling burning tobacco doubles risk of dying.
Congratulations to Dr. Pullen for her brilliant individualized therapy regimen.
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I have a 43 year old daughter who has Prader-Willi Syndrome. It has been a life-long struggle for both of us. The drugs mentioned in this article sound promising but I wonder if it is too late for my daughter. The article does not indicate the ideal age to begin taking these meds. Her weight is being maintained appropriately but she also has sleep apnea (or something more like narcolepsy). Are we too late to be helped by these new drugs?
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@Mary George. I'm Lara's husband. Please consult a neurologist who specializes in sleep as they are the only ones who can give you medical advice. However, pitolisant would most likely help your daughter. Dosing would have to worked out as we have found that dosing seems to be higher in our children with PWS than what identified in clinical trials, but your daughter is an adult, so maybe start with doses recommended for adults (where the drug is indicated for narcolepsy/cataplexy). The drug will likely be available in the US in the fall for that indication so seeing a neurologist now and confirming a diagnosis of narcolepsy is a good start.
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@Mary George We don't yet know the answer. The drug company has indicated that they will be starting a clinical trial for our (older) kids in the fall. You may want to consider enrolling. Probably at a minimum, she would be more awake and think more clearly during the day and sleep better at night.
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@Mary George
my sympathies for yours and your daughter's struggles. I'm sure my imagination falls short of your reality. One place to start is their group TREND (https://trend.community/) and bring this new drug to your doctor's attention.
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