JASPER Early Intervention for Tuberous Sclerosis

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Brief Title

JASPER Early Intervention for Tuberous Sclerosis

Official Title

Mechanisms of Change With Early Intervention in Tuberous Sclerosis

Brief Summary

      The investigators are running an intervention study for young children with Tuberous
      Sclerosis Complex (TSC). The study will include free play-based behavioral intervention
      administered remotely that may improve social and communication skills in children with TSC.
      Eligible families will have a child in the age range of 12-36 months, with a diagnosis of
      TSC. Children with TSC below 12 months may be eligible for an early markers study prior to
      enrollment in the intervention trial.

      The intervention will focus on teaching caregivers skills to improve the social and
      communication outcomes of their children. The content of the intervention will be
      individually tailored to the child's developmental level. The intervention involves 4 on-site
      assessment visits, and 12 weekly intervention sessions, administered in-person and remotely.
      The intervention focuses on improving social-communication and play skills.
    

Detailed Description

      Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in either the TSC1
      or TSC2 genes. The genetic variation results in the growth of non-malignant tumors throughout
      the body. Neurodevelopmental disorders, including global developmental delay, intellectual
      disability, and autism spectrum disorder (ASD) are very common in children with TSC, although
      developmental outcomes can vary widely. Study investigators, over the past several years, has
      been studying infants and young children with TSC, and investigators have found that
      developmental delays can be identified in the first year of life, and that these delays and
      differences can predict a diagnosis of ASD. Currently, there is no specific treatment for the
      neurodevelopmental disorders associated with TSC. Based on this information, researchers now
      want to know if early intervention can help to improve development and prevent ASD in
      children with TSC.

      Investigators are studying the effects of early behavioral intervention on developmental
      outcomes in infants and toddlers with TSC. The study focuses on social-communication skills,
      as these are tightly linked to the development of ASD. The overarching goal of this research
      is to improve outcomes in infants with TSC by conducting rigorous, innovative research in
      treatment, using both brain and behavioral measures to study the effects of treatment.

      Participation requires four on-site assessment visits at UCLA or Boston Children's Hospital,
      and 12 weekly behavioral intervention sessions, administered in-person and remotely. Because
      this behavioral intervention is parent-mediated, a parent must be available to attend these
      sessions. Behavioral assessments generally take up to 4 hours to complete. This study also
      uses research EEG. This non-invasive assessment generally takes 30-45 minutes to complete.
      After the participant's first assessment, he/she will be randomly assigned to receive
      treatment either immediately or in 6 months, with behavioral assessments throughout.
      Participants will be involved in the study for a duration of 15-21 months, depending on
      randomization.

      There are no anticipated risks from this study, although it is possible that the participant
      may react negatively to some of the assessment measures or intervention sessions. For
      example, at the most extreme, the participant may be fearful of an age-appropriate toy and
      may cry or physically pull back from the toy. If this should occur, that particular toy
      presentation, assessment or intervention will be stopped. Sometimes the EEG net can feel
      uncomfortable, especially if children do not like wearing hats or having anything touch their
      heads. Because of this, the study team will provide families with the demonstration
      ("practice") net to use with the participant before his/her session. At any time during the
      session if the participant becomes too upset or agitated, researchers will stop the session.
      Loss of confidentiality is a risk of participating in this research study. As described
      below, researchers will take every measure to keep participation in this research study
      confidential. Participants may benefit from the intervention by receiving detailed
      information about your child's cognitive, language, and communication skills both before the
      intervention begins and after the intervention is completed. Participants also may benefit
      from the intervention itself, which is aimed at improving social communication skills in
      infants and toddlers at high risk for neurodevelopmental disorders. Families will receive
      written feedback on the participants's performance on the behavioral assessments administered
      during assessment time point 4. These assessments are used for research purposes and
      therefore are not comprehensive clinical evaluations. Some of the assessments administered
      will measure social communication skills relevant to Autism Spectrum Disorder (ASD), and the
      feedback letter will report whether the assessment indicated the possible presence of ASD.
      The results of the research may also contribute to the broader TSC and autism fields by
      enhancing the knowledge of the effects of early intervention on social communication skills
      in TSC. Benefits that participating children may derive from the intervention may lead to
      greater benefits for all children with autism and/or TSC.
    


Study Type

Interventional


Primary Outcome

ESCS (Early Social Communication Scales) Assessment.


Condition

Tuberous Sclerosis

Intervention

JASPER

Study Arms / Comparison Groups

 Treatment Group
Description:  The Treatment Group begins the JASPER intervention immediately upon enrollment in the study.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Behavioral

Estimated Enrollment

64

Start Date

October 24, 2017

Completion Date

June 15, 2022

Primary Completion Date

June 15, 2022

Eligibility Criteria

        Inclusion Criteria:

          -  A confirmed diagnosis of Tuberous Sclerosis Complex

        Exclusion Criteria:

          -  A mental age less than 6 months. A plan for epilepsy surgery during the study
             participation period.
      

Gender

All

Ages

6 Months - 40 Months

Accepts Healthy Volunteers

No

Contacts

Shafali Jeste, 3108258738, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT03422367

Organization ID

IRB #17-000262

Secondary IDs

1R01HD090138-01A1

Responsible Party

Principal Investigator

Study Sponsor

University of California, Los Angeles

Collaborators

 Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Study Sponsor

Shafali Jeste, Principal Investigator, University of California, Los Angeles


Verification Date

November 2020