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Review
. 2024 Jul 25:5:26330040241265411.
doi: 10.1177/26330040241265411. eCollection 2024 Jan-Dec.

The role of the TSC Alliance in advancing therapy development: a patient organization perspective

Steven L Roberds  1 , Zoë Fuchs  2 , Elizabeth M Cassidy  2 , Samantha Metzger  2 , Ayat Abi  2 , Ashley J Pounders  2 , Dean J Aguiar  2
Affiliations
Review

The role of the TSC Alliance in advancing therapy development: a patient organization perspective

Steven L Roberds et al. Ther Adv Rare Dis. .

Abstract

Tuberous sclerosis complex (TSC) is a genetic disease leading to malformations, or tubers, in the cerebral cortex and growth of tumors, most frequently in the brain, heart, kidneys, skin, and lungs. Changes in the brain caused by TSC usually have the biggest negative impact on quality of life. Approximately 85% of individuals with TSC have epilepsy, and TSC-associated neuropsychiatric disorders (TAND) affect nearly all individuals with TSC in some way. TSC Alliance's research strategy is built upon both funding and catalyzing research. Through grants, the organization provides funding directly to researchers through a competitive application process. The organization has also built a set of resources available to researchers worldwide, including a Natural History Database, Biosample Repository, and Preclinical Consortium. These resources catalyze research because they are available to qualified academic or industry researchers around the world, enabling an almost unlimited number of scientists to access data and resources to enable and accelerate research on TSC. This research strategy continues to be shaped by the needs and priorities of the TSC community, working toward a future where everyone affected by TSC can live their fullest lives.

Keywords: TSC Alliance; patient engagement; patient-centered research; research strategy; translational research; tuberous sclerosis complex.

Plain language summary

The role of the TSC Alliance in advancing therapy development: a patient organization perspective Finding a new treatment for any disease is a long and expensive process, and it can be even more challenging for a rare disease such as tuberous sclerosis complex (TSC). To encourage research on TSC and speed up the process developing new treatments, the TSC Alliance established a research strategy based upon the priorities of people living with TSC. TSC community members best know how the disease negatively affects their lives. Equally importantly, the TSC community is a necessary partner for any researcher or company who wants to bring forward a potential new treatment. The TSC Alliance awards research grants to individual researchers who are at early stages of their careers. We also collaborate with many researchers and healthcare providers, and with the TSC community, to build shared resources. These resources include data from medical records and biological samples, such as blood and tissue samples, which are shared with researchers around the world for a wide range of projects related to TSC. We also collaborate with researchers from academic laboratories and the pharmaceutical or biotech industry to test potential new drugs or other therapies in animals, which is required before new therapies can be tested in humans. Before and during human testing in clinical trials, we help researchers design a trial that is both meaningful to the TSC community and not overly burdensome to participants. As new therapies become available, the TSC Alliance educates the TSC community and advocates for patient access to new therapies. Over time, as more is learned about how best to monitor and treat people with TSC, the organization convenes a conference of TSC experts to update clinical consensus guidelines to guide improved treatment of this rare disease.

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Conflict of interest statement

All authors are employees of the TSC Alliance.

Figures

Figure 1.
Figure 1.
Key capabilities, programs, and relationships built by the TSC Alliance to help accelerate development of new therapies for TSC. TSC, tuberous sclerosis complex.
Figure 2.
Figure 2.
TSC Alliance has begun funding a third generation of TSC researchers. TSC, tuberous sclerosis complex.
See this image and copyright information in PMC

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