Researchers

Natural History Database

Implemented in 2006, the TSC Natural History Database captures clinical data to document the impact of the disease on a person’s health over his or her lifetime. More than 2,000 people with TSC are enrolled in the project among 18 U.S.-based clinical sites. The TS Alliance provides funding to participating clinics to perform data entry, monitors the integrity of the database, and makes data available to investigators to answer specific research questions and identify potential participants for clinical trials and studies.

Participating TSC Clinics

clinic-mapb

Map Key:

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

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.

Questions?

Contact Jo Anne Nakagawa, TS Alliance Director of Clinical Projects, at (240) 638-4654 or jnakagawa@tsalliance.org.  Download the TSC Natural History Database Project brochure for participants.