Chapter 07
Research and what is actually funded
Dated milestones, and the gap between the roadmap and the budget.
Progress is easiest to judge when it is concrete and dated.
| Year | Milestone |
|---|---|
| 1982 | SMS first described as a recognizable syndrome |
| 1991 | 17p11.2 deletion evidence expanded |
| 2001 | Inverted melatonin rhythm formally documented |
| 2003 | Beta-blocker plus evening melatonin approach published |
| 2022 | rAAV-CRISPRa mouse study — first genetic rescue evidence |
| 2030 | Target for a first-in-human syndrome-modifying trial |
The funding reality
The SMS Research Foundation's FY2024 filing shows a small charity-scale budget, while its public roadmap discusses trial-readiness work toward a first-in-human syndrome-modifying trial by 2030. That mismatch should be framed as ambition plus funding need, not as a guarantee.
A prior Rhythm Pharmaceuticals setmelanotide Phase 2 study included SMS in an obesity-related indication, but it should not be described as recruiting now. ClinicalTrials.gov lists NCT03013543 as completed, with the last update posted in 2023.
Financial figures are from public nonprofit profiles and are lower-confidence than the clinical literature cited elsewhere in this handbook. Treat them as scale-of-funding context, not medical evidence.
For families with a confirmed diagnosis, enrolling in the registry is a practical way to help research. Natural-history data makes the condition easier for researchers and trial designers to measure.