The TBCK Foundation
Cycle 2
Named after a gene, TBCK or TBCK-ID Syndrome is an autosomal recessive neurological disease. There is a range and spectrum of the conditions and severity of impact of TBCK. In general, the major conditions are related to hypotonia (low muscle tone), epilepsy, and intellectual disability.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Respiratory
Organs
Bones
Brain
Eyes
Heart
Mouth / teeth
Muscles
Thyroid
Genes
TBCK
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Unknown
Age of Onset
Infancy (age 0-1)
Prebirth
Incidence
Less than 10
Prevalence
11-50
Populations and/or ancestry with higher prevalence
The founder Boricua mutation is associated with a patient population with severe phenotype in the Caribbean.
Symptoms / Phenotypes
abnormal brain features
developmental delay
distinctive facial features
dysphagia
hyporeflexia
hypotonia
respiratory insufficiency / respiratory failure
seizures / epilepsy
speech delay
Biomarkers
Monitoring
· thyroid, cholesterol, seizure management
Existing Therapies
None
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Primary lymphatic endothelial cells
Cell Lines, location
Children’s Hospital of Philadelphia (CHOP)
University of Massachusetts (UMass)
Cell Lines, share
Yes
Disease Model
C. elegans
Drosophila/fly
Mouse
Organoids
Zebrafish
Disease Model, location
Children’s Hospital of Philadelphia (CHOP)
University of Massachusetts (UMass)
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Longitudinal natural history data
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
RARE-X
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Retrospective data
Platform, Natural History Study
RARE-X
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
In the process of creating diagnostic guidelines
Clinical/Treatment Guidelines
No
Organizational Roles
No full-time staff
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
North America