Comprehensive Analysis of Disease Spectrum and Mortality in Sanjad-Sakati Syndrome: An International Rare Disease Registry Study
A rare genetic syndrome has better survival than previously recognized, informing need for specialized multidisciplinary care guidelines.
In the largest reported cohort of Sanjad-Sakati Syndrome (n=135), a TBCE-mutation rare autosomal recessive disorder, median survival was 27.2 years with 62.4% OS at age 18, with respiratory failure as the dominant cause of death in 84% of cases. These registry data provide the most comprehensive characterization to date and directly support the need for multidisciplinary care guidelines.
What the study was
- Study design
- International rare disease registry (multicenter REDCap survey)
- Population
- Sanjad-Sakati Syndrome (SSS) patients across Gulf region centers; n=135 (largest reported cohort)
- Sample size
- 135
- Category
- Public Health
- Maturity
- Validated
- Journal
- Journal of Clinical Endocrinology and Metabolism
Why it surfaced
Largest reported SSS cohort; international multicenter registry; rare disease with high mortality and unmet need for care guidelines; JCEM high-impact journal for rare endocrine/genetic disorders.
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