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A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex
Carly Hyde1, Maria Pizzano2, Nicole M McDonald3
1UCLA Semel Institute for Neuroscience and Human Behavior, Los Angeles, CA, 90095, USA. chyde@mednet.ucla.edu.
Insights
Remote clinical trial models significantly improve access for infants with rare genetic disorders like Tuberous Sclerosis Complex (TSC) and autism spectrum disorder (ASD). This approach overcomes geographic and comorbidity barriers, enhancing enrollment and diversity in crucial research.
Area of Science:
- Neurodevelopmental Disorders
- Genetics
- Clinical Trials
Background:
- Rare genetic syndromes like Tuberous Sclerosis Complex (TSC) increase autism spectrum disorder (ASD) risk, presenting unique research challenges.
- Geographic distribution and medical comorbidities often limit participation in clinical trials for these conditions.
- Early intervention is critical for infants with TSC and ASD, necessitating effective clinical trial designs.
Purpose of the Study:
- To identify and address barriers to enrollment in a clinical trial for infants with TSC and ASD.
- To adapt a behavioral intervention study design to improve accessibility and recruitment.
- To evaluate the impact of design modifications on enrollment rates and participant demographics.
Main Methods:
- Phase 1: Caregiver interviews to identify enrollment barriers.
- Phase 2: Intervention modification based on identified barriers, transitioning to a remote, parent-delivered model with virtual support.
- Outcomes measured by enrollment rate and participant diversity.
Main Results:
- Caregiver feedback highlighted distance and time as primary enrollment barriers.
- Modification to a remote intervention model led to a tenfold increase in enrollment within one year.
- The adapted trial successfully recruited a more diverse and clinically representative cohort of infants.
Conclusions:
- Scalable remote research methods can significantly improve clinical trial access for rare neurodevelopmental disorders.
- Lessons learned can guide future studies in rare conditions and underserved populations.
- Continued refinement of remote delivery methods is essential for enhancing research efficiency and family accessibility.
Background:
Research in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to clinical sites. These challenges can limit the sample size and generalizability of the cohorts included in both natural history studies and clinical trials. Tuberous sclerosis complex (TSC) is a rare genetic syndrome that confers an elevated risk for autism spectrum disorder (ASD), with social communication delays identified in this population as early as 12 months of age. Early identification of risk necessitates parallel testing of early intervention, prompting the first randomized controlled clinical trial of behavioral intervention for infants with TSC (NCT03422367). However, considerable early recruitment challenges have mandated the systematic identification of enrollment barriers followed by modification of the study design to address these barriers.
Methods:
Caregivers were interviewed regarding barriers to enrollment (phase 1). Adaptations to the intervention were made to address these barriers (phase 2). Outcomes based on this modification to the study design were defined by enrollment rate and participant demographics.
Results:
Qualitative reports from caregivers indicated that distance and time were the primary barriers to clinical trial enrollment. The intervention was then modified to a remote model, with at-home, parent-delivered intervention, and weekly video conferencing with interventionists at the study sites. Enrollment increased 10-fold (from 3 to 30 participants) within 1 year and included a more diverse and clinically representative cohort of infants.
Conclusion:
The design and implementation of more scalable methods to disseminate research remotely can substantially improve access to clinical trials in rare neurodevelopmental disorders. The lessons learned from this trial can serve as a model for future studies not only in rare conditions, but in other populations that lack adequate access, such as families with limited financial or clinical resources. Continued efforts will further refine delivery methods to enhance efficiency and ease of these delivery systems for families.
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