PMID- 28288694
OWN - NLM
STAT- MEDLINE
DCOM- 20171201
LR  - 20211204
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 12
IP  - 1
DP  - 2017 Mar 14
TI  - mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and 
      their potential role in other rare neurodevelopmental disorders.
PG  - 51
LID - 10.1186/s13023-017-0596-2 [doi]
LID - 51
AB  - Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder 
      that affects multiple organ systems throughout the body. Dysregulation of the 
      mammalian target of rapamycin (mTOR) pathway is implicated in the disease 
      pathology, and evidence exists to support the use of mTOR inhibitors in 
      treatment. The mTOR pathway has also been investigated as a potential treatment 
      target for several other rare diseases. TSC research has highlighted the value of 
      pursuing targeted therapies based on underlying molecular pathophysiology. One 
      goal of current research is to identify the role of mTOR inhibition in neurologic 
      and developmental disorders apart from TSC. There is also particular interest in 
      the potential role of mTOR inhibitors in preventing seizures, neurodevelopmental 
      disabilities, renal tumors, cutaneous tumors, and other manifestations typically 
      seen in TSC. It is foreseeable that use of mTOR inhibition to prevent long-term 
      morbidity in TSC will become mainstream therapeutic practice. This review will 
      provide an overview of the relationship between the mTOR pathway and TSC disease 
      pathology, summarize the clinical evidence supporting the use of mTOR inhibitors 
      for treatment of the various manifestations of TSC, and discuss the potential 
      therapeutic role of mTOR inhibitors in several rare diseases.
FAU - Franz, David N
AU  - Franz DN
AD  - Department of Pediatrics, Tuberous Sclerosis Clinic, Cincinnati Children's 
      Hospital Medical Center, University of Cincinnati College of Medicine, 
      Cincinnati, OH, USA. David.Franz@cchmc.org.
FAU - Capal, Jamie K
AU  - Capal JK
AD  - Department of Neurology, Tuberous Sclerosis Clinic, Cincinnati Children's 
      Hospital Medical Center, University of Cincinnati College of Medicine, 
      Cincinnati, OH, USA.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20170314
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
RN  - 0 (Immunosuppressive Agents)
RN  - 9HW64Q8G6G (Everolimus)
RN  - EC 2.7.1.1 (MTOR protein, human)
RN  - EC 2.7.11.1 (TOR Serine-Threonine Kinases)
RN  - W36ZG6FT64 (Sirolimus)
SB  - IM
MH  - Everolimus/*therapeutic use
MH  - Humans
MH  - Immunosuppressive Agents/therapeutic use
MH  - Rare Diseases/*drug therapy
MH  - Sirolimus/*therapeutic use
MH  - TOR Serine-Threonine Kinases/*antagonists & inhibitors/genetics
MH  - Tuberous Sclerosis/*drug therapy/genetics
PMC - PMC5348752
OTO - NOTNLM
OT  - Hamartomas
OT  - Mammalian target of rapamycin inhibitors
OT  - Morbidity
OT  - Neurologic manifestations
OT  - Tuberous sclerosis complex
EDAT- 2017/03/16 06:00
MHDA- 2017/12/02 06:00
PMCR- 2017/03/14
CRDT- 2017/03/15 06:00
PHST- 2016/11/30 00:00 [received]
PHST- 2017/02/14 00:00 [accepted]
PHST- 2017/03/15 06:00 [entrez]
PHST- 2017/03/16 06:00 [pubmed]
PHST- 2017/12/02 06:00 [medline]
PHST- 2017/03/14 00:00 [pmc-release]
AID - 10.1186/s13023-017-0596-2 [pii]
AID - 596 [pii]
AID - 10.1186/s13023-017-0596-2 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2017 Mar 14;12(1):51. doi: 10.1186/s13023-017-0596-2.