Published in the Orphanet Journal of Rare Diseases, the manuscript brings together insights from an international group of clinical and scientific experts to improve understanding of hyperphagia and its implications for patient care.
Eiry W. Roberts, M.D., Chief Medical Officer at Neurocrine Biosciences, emphasized the company's commitment to advancing understanding of PWS and addressing the needs of affected individuals and their families. She noted that recognizing hyperphagia as a multifaceted neurobehavioral condition is essential to understanding its real-world impact and improving symptom assessment and management.
Understanding Hyperphagia in Prader-Willi Syndrome
The publication incorporates perspectives from experts in endocrinology, psychiatry, neuroscience, obesity, genetics, and patient advocacy. It examines how multiple biological, behavioral, and environmental factors contribute to hyperphagia and affect the daily lives of individuals with PWS.
According to the experts, disruptions in hypothalamic neural pathways responsible for regulating hunger, fullness, and food-related reward can interact with autonomic dysfunction and environmental influences. These factors contribute to the varied presentation of hyperphagia and its broader effects on patients and their families.
The publication highlights the need for integrated care strategies that address these underlying complexities across childhood, adolescence, and adulthood.
Key Findings From the Expert Publication
1. Hyperphagia Is a Multidimensional Condition
Hyperphagia involves more than persistent hunger or excessive food consumption. It is influenced by interconnected neurological, behavioral, and environmental factors that can affect autonomy, daily activities, and quality of life.
2. Comprehensive Assessment Is Essential
Individuals living in highly structured environments may exhibit fewer observable food-seeking behaviors while continuing to experience persistent food-related thoughts and a strong drive to eat.
Consequently, existing assessment tools may underestimate disease severity or the effectiveness of interventions in some patients. Experts recommend multidimensional evaluations that consider:
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Food-related thoughts, preoccupations, and behaviors.
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Clinical observations and symptom severity.
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Environmental influences and the level of food-related supervision.
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Caregiver perspectives and the patient's everyday experience.
3. Adolescence and Transition to Adult Care Require Greater Attention
The transition from childhood to adulthood can create additional challenges for individuals with PWS. Reduced structured support, fragmented healthcare services, increasing independence, and caregiver exhaustion may contribute to worsening symptoms and increased health risks.
The experts stress the importance of continued clinical support and coordinated care during these vulnerable periods to help prevent complications and preserve quality of life.
4. Integrated Management Remains a Priority
Environmental controls, including securing food storage areas and managing access to food, remain important components of PWS care. However, environmental management alone may not address the full complexity of hyperphagia.
The publication recommends combining biological, behavioral, and environmental approaches within multidisciplinary care plans, with particular attention to individual needs and changes across different life stages.
5. Pharmacological Treatment Can Complement Existing Support
The experts note that pharmacological interventions may help reduce the burden of hyperphagia on patients and caregivers, potentially allowing greater flexibility in day-to-day management.
VYKAT® XR (diazoxide choline) extended-release tablets represent an important treatment development as the first U.S. FDA-approved treatment for hyperphagia in individuals with PWS. Medication should be considered as part of a comprehensive, multidisciplinary management strategy.
Experts Call for Improved Research and Clinical Care
Maithé Tauber, M.D., Professor Emeritus of Pediatrics at Université Toulouse III and lead author of the publication, highlighted that hyperphagia affects behavior, autonomy, and everyday life beyond its impact on food intake.
She emphasized the need for an integrated approach that connects biological understanding with the experiences of patients and their families, supported by coordinated healthcare teams and systems throughout patients’ lives.
The publication also identifies several priorities for advancing PWS research and clinical practice, including:
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Developing validated outcome measures for clinical trials.
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Identifying biomarkers that could improve disease assessment and research.
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Strengthening connections between mechanistic scientific insights and real-world clinical practice.
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Establishing coordinated, multidisciplinary models of care across different life stages.
These priorities could help improve the evaluation of emerging therapies and support more comprehensive approaches to managing hyperphagia.
About Prader-Willi Syndrome
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder caused by the loss of expression of specific genes on the paternally inherited copy of chromosome 15. According to the Prader-Willi Syndrome Association USA, the condition occurs in approximately one in every 15,000 live births.
Hyperphagia is a defining symptom of PWS. It is characterized by persistent hunger, food preoccupation, an intense drive to eat, food-related behavioral challenges, and impaired satiety.
The condition can have serious health consequences, including choking, stomach rupture, and accidental death associated with food-seeking behaviors. Longer-term complications may include obesity, diabetes, and cardiovascular disease.
About VYKAT® XR (Diazoxide Choline) Extended-Release Tablets
VYKAT XR was approved by the U.S. Food and Drug Administration (FDA) on March 26, 2025, and is commercially available to eligible patients in the United States.
The medication is indicated for the treatment of hyperphagia in adults and pediatric patients aged four years and older with Prader-Willi syndrome.
Important Safety Information
Contraindications: VYKAT XR is contraindicated in patients with known hypersensitivity to diazoxide, other components of the medication, or thiazides.
Warnings and precautions:
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Hyperglycemia: Hyperglycemia, including diabetic ketoacidosis, has been reported. Fasting plasma glucose and HbA1c should be assessed before treatment, and blood glucose should be monitored regularly during therapy. More frequent monitoring may be necessary during the first few weeks for patients with risk factors.
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Risk of fluid overload: Edema, including severe reactions associated with fluid overload, has been reported. Patients should be monitored for signs and symptoms of edema or fluid overload. Caution is advised in patients with compromised cardiac reserve.
Common adverse reactions: The most common adverse reactions, occurring in at least 10% of patients and at least 2% more frequently than with placebo, included hypertrichosis, edema, hyperglycemia, and rash.
Healthcare professionals should consult the full prescribing information, including the Medication Guide, for complete safety details.
About Neurocrine Biosciences, Inc.
Neurocrine Biosciences is a biopharmaceutical company focused on discovering, developing, and commercializing treatments for neurological, psychiatric, endocrine, and immunological disorders.
Its portfolio includes FDA-approved treatments for tardive dyskinesia, chorea associated with Huntington’s disease, classic congenital adrenal hyperplasia, hyperphagia in Prader-Willi syndrome, endometriosis, and uterine fibroids, alongside a pipeline of investigational medicines in mid- to late-stage clinical development. The endometriosis and uterine fibroid treatments are developed in collaboration with AbbVie.
For more information, visit the company's official website at neurocrine.com.
Source: Neurocrine Biosciences, Inc. company announcement.
