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TSC NATURAL HISTORY DATABASE

What is the TSC Natural History Database?

In 2006, the Tuberous Sclerosis Alliance in partnership with a network of TSC Clinics launched the TSC Natural History Database, the first-of-its kind project to collect information about tuberous sclerosis complex (TSC), which affects various organs in the human body: brain, heart, kidney, lung, skin and eyes. TSC is also associated with developmental disorders such as autism. Written permission is obtained from an individual with TSC (or from the parent of a child or dependent adult with TSC) to enter clinical information from their medical record into the TSC Natural History Database, which is a web-based system. New clinical information is added to the database as it is documented in the individual’s medical record.  

The TS Alliance developed the database to serve as a resource of clinical information to researchers seeking to better understand how TSC affects persons at different times in their lives. The long-term goal of this project is to fulfill the TS Alliance’s mission to find a cure for tuberous sclerosis complex and improve the lives of those affected.

In May 2014, the TS Alliance upgraded the original database platform to a new web-based system hosted by ScienceTRAX™. The new platform enables efficient collection of clinical information, and improved utilization of the stored data. 

As of January 23, 2016, 1,877 people with TSC are enrolled in the TSC Natural History Database Project with 51% male and 49% female (view Enrollment Trend 2015 - March 2016). Data collection continues for 90% of these participants. No further clinical data is expected to be collected on 10% of the current records for reasons that include the participant moving, lost to follow-up at the clinic, or death since enrollment. The majority of participants were 17 years old or younger at time of enrollment (70%). View participants with listed TSC-related conditions.

The TS Alliance will provide updates as new information becomes available from the multiple research groups who are analyzing the data.

Publications

The first publication that utilized information from the database appeared in the advance online publication of Molecular Psychiatry, 16 November 2010, entitled, “Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice,”E Ehninger, Y Sano, PJ de Vries et al. This paper raises the possibility that exposure to viral infection may increase the risk of autism spectrum disorder in TSC.  Final print version: Mol Psychiatry. 2012 January; 17(1): 62–70.

An article appearing in Ophthalmology, 2012 Sep; 119(9) 1917-23, entitled, “Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings,” Mary E. Aronow et al.  This paper evaluates the genetic and clinical feature correlations in individuals with astrocytic hamartoma and retinal achromatic patch in TSC.  Print version: Ophthalmology. Volume 119, Issue 9 , Pages 1917-1923, September 2012.

An article appearing in advance of print in Epilepsy Research 2012 Aug 3, entitled, “Central TSC2 missense mutations are associated with a reduced risk of infantile spasms” by Agnies van Eeghen et al. This paper reports on the analysis of epilepsy and DNA data from the TS Alliance TSC database and the database of the Herscot Center at Massachusetts General Hospital. The findings suggest that identifying distinct epilepsy characteristics for specific mutation subgroups may help identify relevant biomarkers (indicators), which will assist healthcare providers in making treatment decisions. Print version: Epilepsy Res. 2013 Jan;103(1):83-7

An article appearing in Epilepsia 2014 July 55(7): 1020-1024, entitled, “Severity of manifestations in tuberous sclerosis complex in relation to genotype" by Sanjeev Kothare et al. evaluated the association of the TSC1 and TSC2 gene mutations with patient and disease characteristics in a review of clinical data collected from 919 individuals who were enrolled in the TSC Natural History Database.
 
An article appearing in Epilepsia 2014 July 55(7): 1025-1029, entitled, “Genotype/phenotype in tuberous sclerosis complex: associations with clinical and radiologic manifestations" by Sanjeev Kothare et al. evaluated the associations between the presence of SEGAs and neuropsychiatric disorders in a retrospective review of 916 patients enrolled in the TSC Natural History Database Project.

An article appearing in advance of print in Epilepsia 2016 July 15, entitled, “Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex,” by Anna Jeong and Michael Wong confirmed their hypothesis that systemic disease manifestations such as cardiac rhabdomyomas, renal and skin tumors were associated with the presence of epilepsy or infantile spasms.

Participating Clinics

  • Minnesota Epilepsy Group, P.A., St. Paul, MN (Michael Frost, MD) 
  • Texas Scottish Rite Hospital for Children, Dallas, TX (Steven Sparagana, MD)
  • New York University Medical Center, New York, NY (Orrin Devinsky, MD to 2015, Josiane LaJoie, MD) 
  • Massachusetts General Hospital, Boston, MA (Elizabeth Thiele, MD, PhD) 
  • Children’s National Medical Center, Fairfax, VA (William McClintock, MD)
  • University of Chicago, Chicago, IL (Michael Kohrman, MD to 2016, Patricia Ogden, APN, FNP, NP-C)  
  • Oakland Children’s Hospital, Oakland, CA  (Candida Brown, MD to 2010, Rachel Kuperman, MD)
  • UCLA Medical Center, Los Angeles, CA  (Joyce T. Wu, MD)
  • University of Texas, Houston (Hope Northrup, MD)
  • University of Alabama, Birmingham (E. Martina Bebin, MD, MPA & Bruce Korf, MD, PhD)
  • The Cleveland Clinic Foundation, Cleveland, OH (Ajay Gupta, MD)
  • University of Colorado, Denver (Paul Levisohn, MD to 2011 & Susan Koh, MD)
  • Miami Children’s Hospital, Miami, FL (Ian O’Neil Miller, MD & Michael Duchowny, MD)
  • Loma Linda University Medical Center, Loma Linda, CA (Stephen Ashwal, MD)
  • Pennsylvania Medical Center, Philadelphia, PA (Peter Crino, MD, PhD to 2012 & Katherine Nathanson, MD)
  • Boston Children’s Hospital, Boston, MA (Mustafa Sahin, MD, PhD)
  • Cincinnati Children’s Hospital, Cincinnati, OH (Darcy Krueger, MD, PhD)
  • Washington University St. Louis, MO (Michael Wong, MD, PhD)

Approved Research Requests

View a list of TSC Natural History Database Research Requests.

Questions?

Contact Jo Anne Nakagawa, TS Alliance Director of Clinical Projects, at (800) 225-6872 or jnakagawa@tsalliance.org.  Download the TSC Natural History Database Project brochure for participants.  


 
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