We welcome your participation in any of these studies!

We have an ongoing study of individuals diagnosed with Tuberous Sclerosis Complex (TSC) in whom molecular diagnostic efforts to define a mutation in TSC1 or TSC2 have failed.  We have been very successful in finding mutations in such individuals, as shown in our recent publication in PLOS Genetics (link).   We are particularly interested in individuals of age > 18 who have a skin manifestation of TSC that we could biopsy and use for mutational analysis.

If you are interested in learning more about this study, please contact Shefali Bagwe at SBAGWE@bwh.harvard.edu.

We have an ongoing trial of celecoxib as treatment for individuals with lymphangioleiomyomatosis (LAM).   The rationale for this trial is that COX-2 expression is markedly increased in LAM and related TSC2 deficient cells, and that treatment with the COX-2 inhibitor celecoxib inhibits the growth of such cells both in vitro and in mouse models.  In this study, individuals with LAM will be treated with celecoxib at 200mg by mouth per day for 6 months with monitoring to assess potential benefit with both clinical (e.g. breathing) and laboratory assessments.

If you are interested in learning more about this study, please contact Shefali Bagwe at SBAGWE@bwh.harvard.edu.

If you have a clinical issue related to the work we are pursuing but distinct from our ongoing studies, please contact Dr. Kwiatkowski directly.

If you send an email, please use an informative subject field, as Dr. Kwiatkowski receives many unsolicited emails most of which are discarded without reading.

E-mail: dk@rics.bwh.harvard.edu
Phone: 857-307-0781

We have an ongoing study of everolimus as treatment for patients with cancer who have mutations in TSC1, TSC2, or MTOR. The rationale for this study is that everolimus has been shown to be effective for several tumor types that occur in TSC, which is due to mutations in TSC1/TSC2, and has also been shown to be effective in several individuals with various cancer types that had mutations in these genes.

If you are interested in learning more about this study, please contact Brian Beardslee bbeardslee1@partners.org.

We have an ongoing study to collect and analyze tumors that occur in TSC and related conditions.   Specifically, we are interested to collect cardiac rhabdomyomas, renal angiomyolipomas, PEComas, TSC skin tumors including facial angiofibromas and ungual fibromas, subependymal giant cell astrocytomas (SEGAs), and LAM samples.  If you are going to be having surgery for any of these tumors, please contact us in advance so that we can make arrangements to collect the tissues at the time of surgery.

If you are interested in learning more about this study, please contact Shefali Bagwe atSBAGWE@bwh.harvard.edu.