Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders
Authors' conclusion
Ghrelin levels were normal in our study population. Hyperghrelinemia is a biomarker of PWS. Hyperphagia is more prevalent and severe in children with NDDs compared with PWS.
Study context
- Population
- Patients (43% children) with a rare genetic NDD (27 distinct conditions), median age 19.8 years; 7 French reference centers for rare neurodevelopmental disorders (NDDs)3 control groups
- Participants
- 130 / 153 / 49 / 31
- Exposure
- Rare genetic NDDs vs prader-Willi syndrome (PWS), Obese and Lean control groups
- NDDsn = 130
- PWSn = 153reference
- Obesen = 49reference
- Leann = 31reference
- Outcome
- Ghrelin level (total, acylated, unacylated)
Methodological detailssingle-visit, noninterventional, national, multicenter
- Single-visit
- Noninterventional
- National
- Multicenter
Main finding
As reported in the abstract
Ghrelin levels (total, acylated, unacylated) in patients with rare NDDs
- Median total ghrelin
- 76.7 (22.2-1110.9) pg/mL
- Median acylated ghrelin
- 33.7 (8.0-754.3) pg/mL
- Median unacylated ghrelin
- 44.2 (11.5-356.6) pg/mL
- Ghrelin levels lower than PWS
- P < .001
Observational data: associations, not effects.
Secondary outcomes
Hyperphagia questionnaire (HQ) total score
- Mean HQ total score, children with NDDs (range)
- 26.3 (10-46)
- Mean HQ total score, adults with NDDs (range)
- 24.0 (11-52)
- HQ total score statistically higher in children with NDDs and lower in adults vs PWS
- First secondary endpoint
Zarit Burden Interview score
- Mean Zarit Burden Interview score, children (range)
- 37.8 (6-74)
- Mean Zarit Burden Interview score, adults (range)
- 37.6 (2-76)
- Positively correlated with HQ total score
Original publication
Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders. J Clin Endocrinol Metab. Published 11 March 2026. doi:10.
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