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.
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.
ABSTRACT
Sleep is an important behavior, and during pregnancy plays a critical role in promoting the health of both woman and child. Therefore, identifying and addressing sleep parameters during pregnancy, and associated disparities in maternal-child health outcomes, is a public health priority. This studied aimed to examine chronotype and sleep duration in pregnant women by sociodemographic factors. An online survey was distributed to currently pregnant women living in the greater Washington, DC, area of the United States from March to May of 2022. The survey included the ultra-short version of the Munich Chronotype Questionnaire (µMCTQ), which was used to calculate the mid-point of sleep time (MST; a measure of chronotype) and sleep duration, as well as demographic questions. Linear regression was used to assess differences in sleep outcomes by demographic factors. A sample of n = 142 currently pregnant women were eligible for analysis. In covariate adjusted models, sleep duration was longer among respondents ages 25-34 (09:52) compared with younger respondents ages 18-24 (08:59; p = 0.014), and shorter for those with a household income ≥ 100,000 United States dollars (USD) (07:42) compared with those with a household income < 50,000 USD (08:59; p = 0.001). No differences in mean mid-point of sleep were identified across demographic factors. Differences in sleep duration by age and household income were found among currently pregnant women. Future studies should investigate sleep parameters and other factors that may influence maternal-child health disparities.
