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Quantifying survival in patients with Proteus syndrome
Julie C Sapp1, Lian Hu2, Jean Zhao2
1National Human Genome Research Institute, Bethesda, Maryland, USA.
Summary
Proteus syndrome patients face a significant risk of premature death, with a 25% chance of mortality by age 22. This rare overgrowth disorder
Area of Science:
- Genetics
- Rare Diseases
- Clinical Research
Background:
- Proteus syndrome is a rare mosaic overgrowth disorder.
- Associated with severe complications and potentially reduced lifespan.
- Mortality data for rare diseases is crucial for evaluating interventions.
Purpose of the Study:
- To measure and estimate the survival rate in patients with Proteus syndrome.
- To quantify the risk of premature death in this population.
- To inform the development of targeted interventions and clinical trials.
Main Methods:
- Utilized clinical research records from a longitudinal natural history cohort.
- Included data from 64 patients at the National Institutes of Health.
- Employed Kaplan-Meier survival analysis to estimate survival probabilities.
Main Results:
- The median age of diagnosis was 19 months.
- A 25% probability of death was observed by 22 years of age.
- 10 out of 11 deaths occurred before age 22, with only one death thereafter.
Conclusions:
- Quantified the substantial risk of premature mortality in Proteus syndrome.
- Suggests the disease process may moderate after adolescence, with most deaths occurring before age 22.
- Highlights the need for mortality-reducing interventions to be focused on the pediatric age group.
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