Tuberous sclerosis complex (TSC) Genetic Diseases Tuberous sclerosis
Conditions
Interventions
This study requires the patient to provide a blood sample to measure mTOR biomarkers in their blood. No additional medication will be received, and all other treatments for tuberous sclerosis will rem
Sponsors
Aeovian Pharmaceuticals Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients who are able to provide written informed consent appropriate to age/local law - patient and/or parent(s)/legal representative who are willing and able to give informed consent/assent for participation in the study 2. Patients who have a definite diagnosis of tuberous sclerosis complex (TSC) according to the Updated International Tuberous Sclerosis Complex Diagnostic Criteria (Paediatric Neurology 123 (2021) 3. Patients who are male or female aged 10 to 65 years 4. All medications or interventions for epilepsy (including ketogenic diet and any neurostimulation devices for epilepsy) must have been stable for 4 weeks prior to the screening visit
Exclusion criteria
Exclusion criteria: 1. Patients with a history of pseudo-seizures 2. Patients with clinically significant unstable medical conditions other than epilepsy 3. Patients who have a serious intercurrent illness or uncontrolled disease that could compromise the interpretation of the data from this study 4. Patients who have received treatment with felbamate, unless continuous for >1 year 5. Patients who have received any other investigational product within the 30 days prior to the screening visit 6. Patients who are unlikely to comply with the requirements of this study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Inter- and intra- assay precision measured as % inhibition of the mTOR signal, as measured by electrochemiluminescence (ECL) units at a single timepoint | — |
Secondary
| Measure | Time frame |
|---|---|
| The stability of signal in samples after freeze/thawing cycles and long-term storage (up to 1 month), pre- and post-processing of blood will be assessed by measuring ECL signal strength and % inhibition at a single timepoint | — |
Countries
England, United Kingdom
Contacts
Public ContactKaye Hallett
Outcome results
None listed