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Spotlight on TSC Alliance

TSC Alliance launches new self-report portal

The TSC Alliance® has added a new dimension in connection with the TSC Natural History Database. A new portal will permit the collection of patient-reported outcomes (PROs) on a variety of topics related to tuberous sclerosis complex (TSC). PROs typically:

  • are directly reported by the person with TSC,
  • pertain to the affected individual’s health, quality of life or functional status associated with health care or treatment, and
  • are not monitored in real-time (i.e., not to be used for reporting emergencies).

In the case of individuals with TSC who are unable to speak or report for themselves, PROs can be submitted by their parent, guardian, or caregiver.

This initiative’s purpose is to help the TSC Alliance and TSC researchers better understand the perspective of those affected by TSC so we can begin to track changes and measure improvement in areas most important to the TSC community, whether that be in the context of general care, treatment or something else. These outcomes can be measured in absolute terms (e.g., rating severity of pain on a numerical scale) or used to report changes from a previous measure (e.g., pain rating that changes over time or new symptom onset after starting a new drug).

PROs may also provide additional useful information. For example, a new drug may demonstrate beneficial clinical outcomes in terms of seizure reduction, while PROs may identify that people are not taking medications due to adverse side effects, the complexity of the dosing schedule or something else. PRO data are captured using an instrument with questions and documentation about its use. In addition, PROs may be helpful for regulatory bodies such as the United States Food and Drug Administration (FDA) to assess risk-benefit measures when evaluating a drug or medical device or clinical trial.

The TSC Alliance’s first use of the self-report portal as a PRO instrument is through collaboration with the TANDem project (Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap) by allowing the community to complete the self-quantified TAND checklist (TAND-SQ). The TSC Alliance is helping the TANDem project group validate the utility of the TAND-SQ for future use in a mobile application. You can learn more about the TANDem at TANDconsortium.org.

“We have listened to moms and dads who asked for a technology platform, making sure we do what is really needed in the community,” Petrus de Vries, MBChB, FRCPpsych, PhD, who’s overseeing the TANDem Project.

For many TAND symptoms (see Figure 1), no objective outcome measurements or ways to quantify severity currently exist. We hope this initiative will help us better understand TAND and how to treat it by learning directly from those affected by TSC or their caregivers.

Figure 1: Spectrum of TAND levels and features in TSC

The Self-Report Portal is built in Studytrax, a secure database used since 2014 for collecting medical data in the TSC Natural History Database (NHD). Participants in the NHD will be able to connect their self-reported data with their existing ID number. Similar to the NHD, no personal identifiers will be included, allowing de-identified data to be exported for research projects. It should take between 20-30 minutes to complete the TAND-SQ. Participants will be able to download their answers as a PDF for personal use. In the future, the TANDem team plans to develop clinical guidelines for the identification and treatment of TAND Clusters to be incorporated as a toolkit that will allow participants to readily share with their healthcare team. The TSC Alliance plans to incorporate additional PRO instruments in the self-report portal in the future. For more information or to sign up to participate, please email biosample@tscalliance.org.

“Studytrax is honored to be a part of the long history of TSC Alliance initiatives that improve the lives of those with TSC,” explained John Putzke,PhD, MSPH, President of Studytrax. “What’s most exciting is that the platform will help to organize and gather information about the full range of what those affected by TSC experience, including development, mental health and learning abilities. There will also be a secure messaging system to ask questions. New development will bring more ways to empower those with TSC and their families through technology, and bring a network of people, resources and investigators together to better coordinate and advance TSC research.”

Getting Started with the Self-Report Portal

About the TSC Alliance

The TSC Alliance is an internationally recognized nonprofit that does everything it takes to improve the lives of people with TSC. We drive research, improve quality care and access and advocate for all affected by the disease. The TSC community is our strongest ally. The collaboration of individuals and families, along with the partnership of other organizations, fuels our work to ensure people navigating TSC have support—and hope—every step of the way.

  • Our work wouldn’t be possible without the commitment of our community. Advancing research requires dedicated investigators, individuals with TSC, government and industry. Improving quality of and access to care demands healthcare professionals and dedicated volunteers. Raising awareness takes the work of families, individuals and volunteers.
  • We use a comprehensive approach to improve quality of life for people with TSC—fueling promising research while making sure that, day-to-day, individuals are diagnosed early and receive the highest quality care available. We also have a voice in policy around healthcare access and federal funding for TSC research.

Research

We ensure TSC researchers have the data and funds they need to discover breakthroughs.

  • We fund investigators working on TSC-related studies. Often, we support focused research projects that allow researchers to develop preliminary data that will lead to additional funding from larger organizations. We also invest in early-career researchers to encourage their interest in TSC. This approach sustains their work long term and maintains momentum by fostering a diverse group of researchers dedicated to our shared mission.
  • We ensure TSC researchers have the data and connections they need to make progress. Our Natural History Database helps us accomplish this objective. It collects clinical information from people with TSC and connects to our Biosample Repository. Researchers use this vast collection of data to answer questions and find patterns in the course of the disease over a lifespan and its variability person to person.
  • The TSC Alliance organizes conferences and publishes a research-focused e-newsletter to facilitate connections between investigators, academic institutions and other nonprofit partners. The more they share and learn from one other, the closer our community will be to breakthroughs.
  • The TSC Alliance fuels collaborative research through our Preclinical Consortium, bringing together industry and academia. We make preclinical testing resources available to de-risk drug development in TSC and move new treatments to clinical trials faster.
  • We streamline the clinical trial process to bring more TSC treatments to market. By working with researchers from TSC Clinics and our community of individuals and families, we help academic and industry researchers implement trials more quickly and effectively and ensure more people with TSC have access to trials that suit their unique journeys.

Care quality and access

We improve access to high-quality care for people with TSC.

  • The TSC Alliance recognizes a network of TSC Clinics around the country and the world where individuals and families can find comprehensive care. Some clinics qualify as TSC Centers of Excellence for their outstanding clinical care for both children and adults, educational resources, community partnerships and research initiatives.
  • Working with and supporting teams of TSC experts around the world, we play a vital role in defining what constitutes quality care. We identify and share best practices for diagnosis, surveillance and treatment with TSC Clinics and other healthcare providers so they can use them within their communities and ensure people with TSC get the best care possible.
  • No one is alone on their TSC journey with the TSC Alliance. We’re a central hub for information about TSC care and treatment, offering resources and support for individuals, families, healthcare professionals and educators to ensure quality care from diagnosis onward.
  • We work to ensure school systems understand and adapt to the learning needs of students with TSC. Our Educator Mentor Program provides one-on-one support to any professional working in education—from pre-K to college—so they can recognize how TSC affects learning and create great educational experiences for their students. We also provide expert guidance on developing Individualized Education Programs (IEPs) and many other resources to help families navigate special education programs.
  • We’re developing an easy-to-use online TSC Navigator tool to help guide individuals and families through the complexities of TSC across the lifespan, proactively manage their care and live their fullest lives.
  • We support adults living with TSC in a variety of ways, from offering support to them and their families as they transition from pediatric to adult care to sharing resources to help further their post-high school education. We also offer educational programs, resources and open forums for independent adults with TSC as well as for caregivers of dependent or semi-dependent adults
  • We’re expanding access to quality care for individuals and families who don’t live near TSC experts by encouraging the use of telemedicine and by calling on our Professional Advisory Board to support local clinicians who aren’t as familiar with the disease.

Community empowerment and advocacy

The TSC Alliance advocates with and on behalf of our community to ensure everyone living with TSC has what they need to live their fullest lives.

  • We advocate for state and federal funding of TSC research and clinical care—and give the TSC community the tools to do the same. Our voices are a powerful force for accelerating discoveries.
  • We amplify the voices of the TSC community to make sure their lived experiences play an important role in prioritizing research and ensuring new treatments.
  • The more people know about TSC, the faster it can be diagnosed and treated. Through campaigns, advocacy and our powerful community of individuals and families, we raise awareness of the disease among healthcare professionals, nonprofits, government partners and the public at large.
  • Our nationwide network of Community Alliances supports individuals and families affected by TSC at the local level. Every branch is run by caring and welcoming volunteers—parents, grandparents, adults and friends—who host educational meetings, raise awareness and fundraise, foster local connections and serve as a resource in their communities.
  • Our network of Global Alliances support TSC communities around the world. Dedicated volunteers work at every Global Alliance, and we partner with them to create and implement plans to help better meet the needs of people navigating TSC outside of the United States.

 

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