Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis.
- J. Bissler, F. McCormack, D. Franz
- MedicineNew England Journal of Medicine
- 10 January 2008
Angiomyolipomas regressed somewhat during sirolimus therapy but tended to increase in volume after the therapy was stopped, suggesting suppression of mTOR signaling might constitute an ameliorative treatment in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
- S. Dabora, S. Jóźwiak, D. Kwiatkowski
- Medicine, BiologyAmerican Journal of Human Genetics
- 2001
The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
- D. Franz, J. Leonard, K. Crone
- MedicineAnnals of Neurology
- 1 March 2006
This work sought to see whether therapy with oral rapamycin could affect growth or induce regression in astrocytomas associated with TSC.
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
- D. Franz, E. Belousova, S. Jóźwiak
- MedicineThe Lancet
- 12 January 2013
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
- D. Franz, A. Brody, F. McCormack
- MedicineAmerican Journal of Respiratory and Critical Care…
- 15 August 2001
It is demonstrated that cystic and nodular pulmonary changes consistent with LAM and MMPH are common in women with TSC and no clear association between cyst development and a specific mutational type is found.
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex
- D. Krueger, A. Wilfong, D. Franz
- Medicine, PsychologyAnnals of Neurology
- 1 November 2013
The first prospective human clinical trial to directly assess whether everolimus will also benefit epilepsy in TSC patients is reported.
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
- M. Tyburczy, K. Dies, D. Kwiatkowski
- Medicine, BiologyPLoS Genetics
- 1 November 2015
The findings illuminate the extent of mosaicism in TSC, indicate the importance of full gene coverage and next generation sequencing for mutation detection, show that analysis of TSC-related tumors can increase the mutation detection rate, and indicate that it is not likely that a third TSC gene exists.
Tuberous sclerosis complex: neurological, renal and pulmonary manifestations.
- D. Franz, J. Bissler, F. McCormack
- MedicineNeuropediatrics
- 1 October 2010
The use of mTOR inhibitors such as rapamycin and everolimus is discussed and recent clinical trials of these drugs in TSC are reviewed.
Multicenter Phase 2 Trial of Sirolimus for Tuberous Sclerosis: Kidney Angiomyolipomas and Other Tumors Regress and VEGF- D Levels Decrease
A correlative biomarker study showed that serum VEGF-D levels are elevated at baseline, decrease with sirolimus treatment, and correlate with kidney angiomyolipoma size, which may be a useful biomarker for monitoring kidney angiofibromas.
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