RecruitingNCT06274164
Neurological
Smith-Magenis Syndrome
Also known as SMS, RAI1 haploinsufficiency, 17p11.2 deletion syndrome
Smith-Magenis syndrome is caused by haploinsufficiency of the RAI1 gene due to interstitial deletion of chromosome 17p11.
ORPHA:819 ↗Gene RAI1Prevalence 1-9 per 100,000 (Orphanet)Onset Infantile, ChildhoodGenetic (chromosomal deletion or RAI1 point mutation, usually de novo)
2
studies recruiting now
as of 7 Sept 2026
19
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
23 Feb 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03154697
Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Patient organisations
PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome)Patient association
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Registry: SMS Research Foundation Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Smith-Magenis Syndrome
Smith-Magenis syndrome is caused by haploinsufficiency of the RAI1 gene due to interstitial deletion of chromosome 17p11.2 or point mutation in RAI1. Characteristic features include a distinctive behavioral phenotype with self-injurious behavior, self-hugging stereotypy, inverted circadian rhythm (daytime melatonin secretion causing sleep disturbance), and intellectual disability. Facial features become more pronounced with age, and patients often have hearing loss, short stature, and brachydactyly.
Common clinical features
Inverted sleep-wake cycleSelf-injurious behaviorIntellectual disabilityDistinctive facial featuresHearing lossShort statureBrachydactyly
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2/3Tasimelteon (Hetlioz)
Before you apply
Things trial teams commonly ask about for Smith-Magenis Syndrome. Not eligibility rules; those are set by each study.
- Chromosome 17p11.2 deletion size or specific RAI1 mutation type must be documented — deletion versus point mutation may affect trial eligibility
- Actigraphy documenting inverted circadian rhythm (daytime sleep) and polysomnography are key baseline measures
- Melatonin-targeted sleep trials require baseline sleep diary and actigraphy for at least 4 weeks before enrollment
- Behavioral phenotype assessment (ABC-C, Vineland) and adaptive behavior scores are required eligibility measures
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).