Clinical trial · Interventional
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
NCT01929642CI-TRIAL-00050926RAPTcompletedPhase 2Results postedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The purpose of this study is to assess the feasibility and safety of administering rapalogues, sirolimus or everolimus, in participants with Tuberous Sclerosis Complex (TSC) and self-injury and to measure cognitive and behavioral changes, including reduction in autistic symptoms, self-injurious and aggressive behaviors, as well as improvements in cognition across multiple domains of cognitive function.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Autism | — | UNRESOLVED | — |
| Self-injury | — | UNRESOLVED | — |
| Tuberous Sclerosis Complex | — | UNRESOLVED | — |
Interventions
Interventions (2)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Everolimus | Drug | Everolimus | ALIAS |
| Sirolimus | Drug | Sirolimus | ALIAS |
Design
Arms and outcomes
Arms (1)
- type
- EXPERIMENTAL
- label
- Sirolimus or Everolimus
- description
- Oral solution or tablet,titrated to therapeutic serum trough range (sirolimus); Oral tablet, titrated to therapeutic serum trough range (everolimus)
- interventionNames
- Drug: Sirolimus
- Drug: Everolimus
Primary outcomes (3)
- measure
- Number of Participants With Compliance to the Treatment Protocol.
- timeFrame
- Change from baseline to EOT visit 12 week 53
- description
- One outcome measurement of feasibility will include family/patient compliance with the treatment protocol, which will be assessed and documented at every study visit and telephone follow-up call, by the physician and/or study team member. This was calculated by calculating dividing the total number of study visits and study assessments completed by the total number of study visits and study assessments indicated by the treatment protocol.
- measure
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 2 Years
- Maximum age
- 30 Years
Show eligibility criteria text
Inclusion Criteria: 1. Diagnosed with Tuberous Sclerosis Complex as defined by the revised NIH consensus criteria 2. Possible autism or autism spectrum disorder and/or possible intellectual disability and/or global developmental delay 3. Currently displaying disruptive behaviors, such as self-injury and aggression 4. Seizures or epilepsy with at least one seizure within six months prior to enrollment 5. 2-30 years of age 6. English-speaking caregiver if participant is non-verbal. 7. If individuals are currently being treated with everolimus, they must have been taking it for less than or equal to 6 months. Exclusion Criteria: 1. Participants who require live vaccines that are contraindicated with sirolimus will be excluded - bacille Calmette Guerin(BCG), measles-mumps-rubella vaccine(MMR), poliovirus, rotavirus, smallpox, typhoid, varicella, or yellow fever. 2. Participants who have a history of multiple or severe infections, or reside in a household with anyone who has a chronic, contagious condition will be excluded. Multiple infections will be defined as eight or more lifetime episodes of otitis media or two or more lifetime episodes of bacterial pneumonia. Severe infections will be defined as infections requiring more than one hospital admission for treatment. 3. Participants with any of the following laboratory abnormalities will be excluded: hematocrit \< 27%, absolute neutrophil count(ANC) \< 1,500, platelet count \< 100,000, serum glutamate oxaloacetate transaminase(SGOT) or serum glutamate pyruvate transaminase (SGPT) \> two times normal for age, bilirubin \> two times normal for age, alkaline phosphatase \> two times normal for age, epidermal growth factor receptor (eGFR) \< 30, or evidence of renal failure, hypercholesterolemia. 4. Participants who have medical contraindications to undergoing an MRI will be excluded. 5. Participants with devices implanted in the brain will be excluded. 6. Pregnant participants will be excluded. All young ladies of child bearing potential will have a blood test for pregnancy prior to the start of the study and every study visit for the duration of the study. 7. Participants who have a history of herpes simplex virus, cytomegalovirus, and/or HIV infection will be excluded
References
Publications (47)
- BACKGROUNDNapolioni V, Curatolo P. Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics. 2008 Nov;9(7):475-87. doi: 10.2174/138920208786241243. PMID 19506736
- BACKGROUNDGomez M, Sampson JR, Whittemore VH, editors. Tuberous sclerosis complex. 3rd ed. Oxford University Press; 1999.
- BACKGROUNDOsborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:125-7. doi: 10.1111/j.1749-6632.1991.tb37754.x. No abstract available. PMID 2039137
- BACKGROUNDCross JH. Neurocutaneous syndromes and epilepsy-issues in diagnosis and management. Epilepsia. 2005;46 Suppl 10:17-23. doi: 10.1111/j.1528-1167.2005.00353.x. PMID 16359466
- BACKGROUNDCuratolo P, Bombardieri R, Verdecchia M, Seri S. Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment. J Child Neurol. 2005 Apr;20(4):318-25. doi: 10.1177/08830738050200040901. PMID 15921233
- BACKGROUNDJoinson C, O'Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med. 2003 Feb;33(2):335-44. doi: 10.1017/s0033291702007092. PMID 12622312
- BACKGROUNDde Vries PJ. Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex. Neurotherapeutics. 2010 Jul;7(3):275-82. doi: 10.1016/j.nurt.2010.05.001. PMID 20643380
- BACKGROUNDSmalley SL. Autism and tuberous sclerosis. J Autism Dev Disord. 1998 Oct;28(5):407-14. doi: 10.1023/a:1026052421693. PMID 9813776
- Bolton PF, Park RJ, Higgins JN, Griffiths PD, Pickles A. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain. 2002 Jun;125(Pt 6):1247-55. doi: 10.1093/brain/awf124.