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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 August 1, 2010, 1,027 people with tuberous sclerosis complex are enrolled in the project (View Chart 1).  Of those, 503 are male; 524 are female.  Six hundred sixty-seven (65%) are less than 18 years old with the youngest 4 months old; the remaining 360 (35%) research participants are 18 or over with the oldest 77 years old.  We are entering medical information in at least 13 areas affected by TSC (e.g. brain, eyes, heart, kidneys, skin).  Epilepsy is entered as a condition affecting 82% of the research participants enrolled.  39% of those with epilepsy have a history of infantile spasms and 60% have a history of complex partial seizures. 23% have a history of both types of seizures.  Other conditions include: angiofibroma (49%), rhabdomyoma (37%), angiomyolipoma (38%) and subependymal giant cell tumor (19%).   Five of the 16 participating TSC Clinics have enrolled >75 individuals with TSC.  The average percentage of those with a history of epilepsy is 84% (range: 81-90%), and the average percentage of those with a history of a SEGA/SGCT is 20% (range: 13-27%) (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.   Three hundred seventy-one participants are entered as having a TSC mutation: 127 with TSC1 (34%) and 244 with TSC2 (66%).   

As of September 1, 2010, 1,033 people with TSC are enrolled in the project.  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).   In the past year, the TS Alliance has begun to utilize the database to help TSC researchers.  The work focus for the remainder of 2010 has been re-directed to updating the more than 1,000 records in the database before entering medical information on new participants, who are being consented to take part in the project at the TSC Clinics listed below.    

For More Information

Read the TSC Natural History Database Project brochure for more information (en Español).  To participate in this project, you or your child with TSC must be a patient at one of the following participating TSC 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) 
• 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)
• 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 & 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 & Katherine Nathanson, MD)

Questions?

Contact Jo Anne Nakagawa, TS Alliance Director of Clinical Projects, at (800) 225-6872 or jnakagawa@tsalliance.org.