Tuberous Sclerosis ComplexPhase 2RAPTNCT01929642
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
A Phase 2 study testing Sirolimus and Everolimus in people with Tuberous Sclerosis Complex and Self-injury, run by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. at 1 site in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 2 to 30 years
- Conditions the study is for
- Tuberous Sclerosis Complex, Self-injury, Autism
- What is being tested?
- Sirolimus and Everolimus
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2013to Aug 2016
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Diagnosed with Tuberous Sclerosis Complex as defined by the revised NIH consensus criteria
- Possible autism or autism spectrum disorder and/or possible intellectual disability and/or global developmental delay
- Currently displaying disruptive behaviors, such as self-injury and aggression
- Seizures or epilepsy with at least one seizure within six months prior to enrollment
- 2-30 years of age
- English-speaking caregiver if participant is non-verbal.
- If individuals are currently being treated with everolimus, they must have been taking it for less than or equal to 6 months.
Who cannot join
- 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.
- 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.
- 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.
- Participants who have medical contraindications to undergoing an MRI will be excluded.
- Participants with devices implanted in the brain will be excluded.
- 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.
- Participants who have a history of herpes simplex virus, cytomegalovirus, and/or HIV infection will be excluded
Trial locations and contacts
1 site in 1 country.
United States1 site
Kennedy Krieger Institute
Baltimore, Maryland, 21205
About this study
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.
Read the detailed description
This is a feasibility and safety study primarily designed to assess the feasibility and safety of conducting a larger clinical trial with sirolimus in individuals with TSC. The present study will employ an ABA design in which three pediatric participants will be selected to receive baseline medical, developmental, behavioral, and cognitive evaluations, followed by a 26 week administration of sirolimus, repeated baseline assessments at the end of the 26 week treatment phase, and a 4 week titrated withdrawal followed by a 22 week period in which no rapalogue is administered. All participants will again be administered baseline medical, behavioral, and cognitive evaluations at the end of the study in order to compare all evaluations done at baseline, the end of the 26 week treatment, and completion of the study. These comparisons will be done to assess secondary outcomes that include reductions in autistic symptoms, self-injury, and aggression, as well as improvements in cognitive function across multiple domains. Furthermore, administration of the secondary outcome measures will also allow us to better understand the sensitivity of these measures in patients with TSC during the course of a clinical trial.
Families of potentially eligible children who express interest in the study and meet prescreening criteria will be invited to attend a screening visit to determine eligibility, inclusion/exclusion criteria, and availability for eight additional study visits. Prior to enrollment, informed consent will be obtained from the parent or legal guardian.
Investigators will use the methods of analysis of single-subject research (ABA design, where first A represents baseline, B represents treatment, and A represents reversal of treatment. The analysis will focus on each of the 3 subjects separately. Data on feasibility and safety (primary outcome) and on frequency of disruptive behavior (secondary outcome) will be plotted and visually inspected to detect any temporal changes by phase: 1. Baseline, 2. Treatment, 3. After treatment. Data in each phase will be summarized as mean +/- standard deviation (SD). We will use the summary data to assess the potential effect of the intervention. Consistency of the effect will be examined across the 3 study participants.
- Conditions
- Tuberous Sclerosis Complex, Self-injury, Autism
- Being tested
- Sirolimus, Everolimus
- Keywords
- Tuberous Sclerosis Complex (TSC), self-injury, Autism
- Medical subject headings
- Tuberous Sclerosis, Self-Injurious Behavior, Autistic Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SirolimusDrug
Also called Rapamune, Rapamycin
EverolimusDrug
Also called Afinitor
| Study group | Role | What they receive |
|---|---|---|
| Sirolimus or Everolimus | Experimental | Oral solution or tablet,titrated to therapeutic serum trough range (sirolimus); Oral tablet, titrated to therapeutic serum trough range (everolimus) Receives: Drug: Sirolimus; Drug: Everolimus |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Compliance to the Treatment Protocol.
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.
Measured: Change from baseline to EOT visit 12 week 53
Caregiver Burden
The Caregiver Burden Scale is a standard set of questions which will be used to measure the non-medical impact of TSC on caregivers and how it affects the feasibility of study completion.
The Caregiver's Burden Scale (CBS) is a 22-item scale that assess subjectively experienced burden by caregiver's to chronically disabled persons. maximum scores: 88 \& Minumum scores: 22
High values represent a worse outcome
Measured: Change from baseline to EOT visit 12 week 53
Feasibility Measurements of Parental Stress
Measurements of stress will be administered. Specifically, we will use the Parental Stress Index. Quantifying stress, as well as compliance with the study protocol, will allow investigators to objectively assess the feasibility of a larger clinical trial of sirolimus in patients with TSC.
Parental stress index maximum score: 180 Parental stress index minimum score: 36 higher raw scores indicate higher levels of stress.
Measured: Change from baseline to EOT visit 12 week 53
Secondary outcomes (5)
Total Number of Aggressions or Self-injuries
This is the total number of aggressions or self-injuries for all participants.
Measured: 1 year
Cognitive Function as Assessed by the Capute Scale
Score range maximum: 100 Score range minimum: 0
High values represent a high cognitive function Below 70 is abnormal. 70-100 is the normal range.
Measured: 1 year
Repetitive Behavior
Repetitive behavior will be assessed using the Repetitive Behavior Scale - revised, a questionnaire to characterize several domains of repetitive behavior including ritualistic behavior, stereotypic behavior, self-injurious behavior, compulsive behavior, and restricted interests.
There are 36 items on the scale. Behaviors are rated on a 4-point scale: 0-Behavior does not occur, 1-Behavior occurs and is a mild problem, 2-Behavior occurs and is a moderate problem, 3-Behavior occurs and is a severe problem.
Maximum score: 108 \& minimum score: 0 A high score represents the worse outcome
Measured: 1 year
Self-Injury Trauma Scale--SIT Scale
The SIT Scale is a 3-part clinician-completed scale used to quantify visible injuries caused by self-injurious behavior(SIB). Part 1 includes sections to indicate SIB topographies and any evidence of healed injury. In Part 2 evaluators document the location and severity of injury (on a 3-point scale). In Part 3, respective scores from Parts 1 and 2 are summed to obtain a Number Index, a Severity Index, and Estimate of Current Risk. This Scale has been used in research with adults with SIB with inter-rater reliability averaging 85%.
Maximum score: 100 Minimum score: 0 High score represent worse outcome.
Measured: 1 year
Frequency of Seizures Assessed by Total Number of Seizures
Parents will be asked to document the frequency of their child's seizures using a manual or electronic (seizuretracker.com) seizure diary. The total number of seizures at baseline for all participants.
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2013 (estimated)
- Study startJul 2013
- Primary completionJul 2016
- Study completionAug 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (47)Papers the sponsor has linked to this study.
- Other trials for Tuberous Sclerosis ComplexStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tanjala Gipson, MD, Principal investigator, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01929642
- Sponsor's protocol ID
- AM00037881
- Acronym
- RAPT
- Status last verified
- Mar 2021
- First submitted
- 7 Aug 2013
- Last updated
- 29 Mar 2021
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Publications
Napolioni V, Curatolo P. Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics. 2008 Nov;9(7):475-87. doi: 10.2174/138920208786241243.
PubMed 19506736Gomez M, Sampson JR, Whittemore VH, editors. Tuberous sclerosis complex. 3rd ed. Oxford University Press; 1999.
Osborne 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.
PubMed 2039137Cross 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.
PubMed 16359466Curatolo 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.
PubMed 15921233Joinson 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.
PubMed 12622312de 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.
PubMed 20643380Smalley SL. Autism and tuberous sclerosis. J Autism Dev Disord. 1998 Oct;28(5):407-14. doi: 10.1023/a:1026052421693.
PubMed 9813776Bolton 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.
PubMed 12023313Prescibing Information for Sirolimus. 1999).
Sindhi R. Sirolimus in pediatric transplant recipients. Transplant Proc. 2003 May;35(3 Suppl):113S-114S. doi: 10.1016/s0041-1345(03)00223-9.
PubMed 12742479Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008 Aug;14(8):843-8. doi: 10.1038/nm1788. Epub 2008 Jun 22.
PubMed 18568033Zeng LH, Xu L, Gutmann DH, Wong M. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol. 2008 Apr;63(4):444-53. doi: 10.1002/ana.21331.
PubMed 18389497Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G, Dinopoulos A, Thomas G, Crone KR. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006 Mar;59(3):490-8. doi: 10.1002/ana.20784.
PubMed 16453317Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010 Nov 4;363(19):1801-11. doi: 10.1056/NEJMoa1001671.
PubMed 21047224
Study at a glance
From the registry record, last updated by the sponsor on 29 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rapalogues for Autism Phenotype in TSC: A Feasibility Study
- ClinicalTrials.gov ID
- NCT01929642
- Acronym / sponsor ID
- RAPT / AM00037881
- Conditions
- Tuberous Sclerosis Complex, Self-injury, Autism
- Keywords
- Tuberous Sclerosis Complex (TSC), self-injury, Autism
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 3 participants (actual)
- Lead sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.University, hospital or other
- Study start
- Jul 2013
- Primary completion
- Jul 2016 (actual)
- Study completion
- Aug 2016 (actual)
- First posted
- 28 Aug 2013 (estimated)
- Results
- Posted 29 Mar 2021
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This is a feasibility and safety study primarily designed to assess the feasibility and safety of conducting a larger clinical trial with sirolimus in individuals with TSC. The present study will employ an ABA design in which three pediatric participants will be selected to receive baseline medical, developmental, behavioral, and cognitive evaluations, followed by a 26 week administration of sirolimus, repeated baseline assessments at the end of the 26 week treatment phase, and a 4 week titrated withdrawal followed by a 22 week period in which no rapalogue is administered. All participants will again be administered baseline medical, behavioral, and cognitive evaluations at the end of the study in order to compare all evaluations done at baseline, the end of the 26 week treatment, and completion of the study. These comparisons will be done to assess secondary outcomes that include reductions in autistic symptoms, self-injury, and aggression, as well as improvements in cognitive function across multiple domains. Furthermore, administration of the secondary outcome measures will also allow us to better understand the sensitivity of these measures in patients with TSC during the course of a clinical trial.
Families of potentially eligible children who express interest in the study and meet prescreening criteria will be invited to attend a screening visit to determine eligibility, inclusion/exclusion criteria, and availability for eight additional study visits. Prior to enrollment, informed consent will be obtained from the parent or legal guardian.
Investigators will use the methods of analysis of single-subject research (ABA design, where first A represents baseline, B represents treatment, and A represents reversal of treatment. The analysis will focus on each of the 3 subjects separately. Data on feasibility and safety (primary outcome) and on frequency of disruptive behavior (secondary outcome) will be plotted and visually inspected to detect any temporal changes by phase: 1. Baseline, 2. Treatment, 3. After treatment. Data in each phase will be summarized as mean +/- standard deviation (SD). We will use the summary data to assess the potential effect of the intervention. Consistency of the effect will be examined across the 3 study participants.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Sirolimus or Everolimus | Experimental | Drug: Sirolimus, Drug: EverolimusOral solution or tablet,titrated to therapeutic serum trough range (sirolimus); Oral tablet, titrated to therapeutic serum trough range (everolimus) |
Who may qualify
- Ages
- 2 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- Diagnosed with Tuberous Sclerosis Complex as defined by the revised NIH consensus criteria
- Possible autism or autism spectrum disorder and/or possible intellectual disability and/or global developmental delay
- Currently displaying disruptive behaviors, such as self-injury and aggression
- Seizures or epilepsy with at least one seizure within six months prior to enrollment
- 2-30 years of age
Key exclusion criteria (7 listed)
- 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.
- 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.
- 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.
- Participants who have medical contraindications to undergoing an MRI will be excluded.
- Participants with devices implanted in the brain will be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SirolimusAlso: Rapamune, Rapamycin | Drug | Sirolimus or Everolimus |
| EverolimusAlso: Afinitor | Drug | Sirolimus or Everolimus |
Primary outcome
Number of Participants With Compliance to the Treatment Protocol.
Time frame: Change from baseline to EOT visit 12 week 53
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.
Caregiver Burden
Time frame: Change from baseline to EOT visit 12 week 53
The Caregiver Burden Scale is a standard set of questions which will be used to measure the non-medical impact of TSC on caregivers and how it affects the feasibility of study completion. The Caregiver's Burden Scale (CBS) is a 22-item scale that assess subjectively experienced burden by caregiver's to chronically disabled persons. maximum scores: 88 \& Minumum scores: 22 High values represent a worse outcome
Feasibility Measurements of Parental Stress
Time frame: Change from baseline to EOT visit 12 week 53
Measurements of stress will be administered. Specifically, we will use the Parental Stress Index. Quantifying stress, as well as compliance with the study protocol, will allow investigators to objectively assess the feasibility of a larger clinical trial of sirolimus in patients with TSC. Parental stress index maximum score: 180 Parental stress index minimum score: 36 higher raw scores indicate higher levels of stress.
5 secondary outcomes
Total Number of Aggressions or Self-injuries
Time frame: 1 year
Cognitive Function as Assessed by the Capute Scale
Time frame: 1 year
Repetitive Behavior
Time frame: 1 year
Self-Injury Trauma Scale--SIT Scale
Time frame: 1 year
Frequency of Seizures Assessed by Total Number of Seizures
Time frame: at baseline
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Mar 2021.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Background: PubMed 19506736Napolioni V, Curatolo P. Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics. 2008 Nov;9(7):475-87. doi: 10.2174/138920208786241243.
- BackgroundGomez M, Sampson JR, Whittemore VH, editors. Tuberous sclerosis complex. 3rd ed. Oxford University Press; 1999.
- Background: PubMed 2039137Osborne 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.
- Background: PubMed 16359466Cross 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.
- Background: PubMed 15921233Curatolo 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.
- Background: PubMed 12622312Joinson 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.
- Background: PubMed 20643380de 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.
- Background: PubMed 9813776Smalley SL. Autism and tuberous sclerosis. J Autism Dev Disord. 1998 Oct;28(5):407-14. doi: 10.1023/a:1026052421693.
- Background: PubMed 12023313Bolton 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.
- BackgroundPrescibing Information for Sirolimus. 1999).
- Background: PubMed 12742479Sindhi R. Sirolimus in pediatric transplant recipients. Transplant Proc. 2003 May;35(3 Suppl):113S-114S. doi: 10.1016/s0041-1345(03)00223-9.
- Background: PubMed 18568033Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ, Ramesh V, Silva AJ. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008 Aug;14(8):843-8. doi: 10.1038/nm1788. Epub 2008 Jun 22.
- Kennedy Krieger Institute Clinical Trials UnitLink provided by the sponsor.
- TSC clinic at Kennedy Krieger InstituteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tanjala Gipson, MD principal investigator
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Sirolimus and Everolimus in people with Tuberous Sclerosis Complex and Self-injury, run by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 29 Mar 2021). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Compliance to the Treatment Protocol. (time frame: Change from baseline to EOT visit 12 week 53). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01929642, which also lists 47 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Mar 2021.