Smith-Kingsmore Syndrome Foundation

Cycle 2
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Smith-Kingsmore Syndrome (SKS) is a rare, neurodevelopmental genetic disorder caused by changes (disease-causing variants) in the MTOR gene. SKS impacts the digestive, endocrine, metabolic and nervous systems. The most common symptoms in people with SKS are intellectual disability, developmental delay, large brain size (megalencephaly) and seizures.

Last updated May 2024

Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Digestive
Endocrine
Metabolic
Nervous / Sensory
Organs
Brain
Genes
MTOR
Type of Inheritance
Autosomal dominant
Disease Mechanism(s)
mTOR pathways dysregulation
Age of Onset
Prebirth
Incidence
Less than 10
Prevalence
51-100
Symptoms / Phenotypes
atypical puberty
autism
autistic behavior
developmental delay
distinctive facial features
excessive hunger / hyperphagia
gastrointestinal disorders
hyperactivity
intellectual disability
macrocephaly
seizures / epilepsy
sensory processing disorder / sensory hypersensitivity
sleep disorders
speech delay
Biomarkers
Diagnostic
· Seizures, macrocephaly, sleep/wake dysfunction, intellectual disability, autism, epilepsy, developmental delays
Existing Therapies
Drugs approved for the symptoms
Drugs used off-label
· Rapamycin (sirolimus), everolimus - both experimental
Organizational & Research
Cell Lines
Not specified / unknown
Cell Lines, location
University of Florida
Cell Lines, share
No
Disease Model
Drosophila/fly
Mouse
Disease Model, location
University of California Davis (UC Davis)
University of Florida
Disease Model, share
No
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Electronic health records/electronic medical records
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
CoRDS
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
Organizational Roles
Director of Operations/Director of Development
Executive Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None