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TSC NATURAL HISTORY DATABASE PROJECT

What is the TSC Natural History Database Project?

In 2006, the Tuberous Sclerosis Alliance in partnership with a network of TSC Clinics launched the first of its kind project to collect information about this inherited disease, which affects various organs in the human body: brain, heart, kidney, lung, skin, and is associated with developmental disorders such as autism.  Updates about a research participant’s condition are entered in the database whenever the TSC Clinic has new information from a follow-up visit, hospitalization, or from diagnostic tests or procedures that have been done.  

The database will serve as a resource of 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.

As of November 2013, 1,296 people with tuberous sclerosis complex are enrolled in the project (view Chart 1). Of those, 646 are male; 650 are female.  Seven hundred nineteen (55%) are less than 18 years old with the youngest 2 months old; the remaining 577 (45%) research participants are 18 or over with the oldest 80 years old.  We are entering medical information in at least 13 areas affected by TSC (e.g. brain, eyes, heart, kidneys, skin).  Epilepsy is one of the most common conditions entered affecting 85% of the research participants enrolled.   Other conditions include: angiofibroma (61%), rhabdomyoma (38%), angiomyolipoma (61%) and subependymal giant cell tumor (29%) (view Chart 2). Genetic testing information (which is not required to participate in the database project) is also entered in the database if it is in the participant’s medical records. Five hundred thirty participants are entered as having a TSC mutation: 171 of the 530 with TSC1 (32%) and 359 with TSC2 (68%).  In order to better understand how TSC affects individuals throughout their lifetime, it is important to continually update existing records in the database as new medical information becomes available (e.g. new test results, diagnoses, treatments). Multiple research groups are analyzing data from the TSC database.

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 advance of print in Epilepsia 2014 April 22, entitled, “Genotype/phenotype in tuberous sclerosis complex: Associations with clinical and radiologic manifestations” by Sanjeev V. Kothare et al.  This paper reports the association between SEGAs and neuropsychiatric disorders in patients with TSC.

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 (Josiane LaJoie, MD to 2011, James Riviello, Jr., MD to 2013, Orrin Devinsky, 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)  
  • 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)
  • UZ Brussel Hospital, Brussels, Belgium (Anna C. Jansen, MD, PhD)
  • Pennsylvania Medical Center, Philadelphia, PA (Peter Crino, MD, PhD to 2012 & Katherine Nathanson, MD)

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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Unlock the Cure: The Tipping Point in the Battle Against TSC
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La Esclerosis Tuberosa (Spanish Intro to TSC)
Infantile Spasms & TSC: A Devastating Diagnosis
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