Abstract
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the leading single-gene cause of autism spectrum disorders. It is due to a loss of the fragile X mental retardation protein, which leads to molecular, behavioral, and cognitive deficits in these patients. Improvements in our understanding of its pathophysiology have led to the development of numerous targeted treatments in FXS as highlighted by metabotropic glutamate receptor antagonists and gamma-Aminobutyric acid receptor modulators. This review will summarize relevant pre-clinical data and results from clinical trials in human subjects with FXS. It will also highlight upcoming studies and future directions for clinical trials as well.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 158-167 |
| Number of pages | 10 |
| Journal | Intractable and Rare Diseases Research |
| Volume | 5 |
| Issue number | 3 |
| DOIs | |
| State | Published - 2016 |
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Keywords
- Clinical trials
- Fragile X syndrome
- Targeted treatments
ASJC Scopus subject areas
- Medicine(all)
Cite this
Review of targeted treatments in fragile X syndrome. / Ligsay, Andrew; Hagerman, Randi J.
In: Intractable and Rare Diseases Research, Vol. 5, No. 3, 2016, p. 158-167.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Review of targeted treatments in fragile X syndrome
AU - Ligsay, Andrew
AU - Hagerman, Randi J
PY - 2016
Y1 - 2016
N2 - Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the leading single-gene cause of autism spectrum disorders. It is due to a loss of the fragile X mental retardation protein, which leads to molecular, behavioral, and cognitive deficits in these patients. Improvements in our understanding of its pathophysiology have led to the development of numerous targeted treatments in FXS as highlighted by metabotropic glutamate receptor antagonists and gamma-Aminobutyric acid receptor modulators. This review will summarize relevant pre-clinical data and results from clinical trials in human subjects with FXS. It will also highlight upcoming studies and future directions for clinical trials as well.
AB - Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the leading single-gene cause of autism spectrum disorders. It is due to a loss of the fragile X mental retardation protein, which leads to molecular, behavioral, and cognitive deficits in these patients. Improvements in our understanding of its pathophysiology have led to the development of numerous targeted treatments in FXS as highlighted by metabotropic glutamate receptor antagonists and gamma-Aminobutyric acid receptor modulators. This review will summarize relevant pre-clinical data and results from clinical trials in human subjects with FXS. It will also highlight upcoming studies and future directions for clinical trials as well.
KW - Clinical trials
KW - Fragile X syndrome
KW - Targeted treatments
UR - http://www.scopus.com/inward/record.url?scp=85018234013&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85018234013&partnerID=8YFLogxK
U2 - 10.5582/irdr.2016.01045
DO - 10.5582/irdr.2016.01045
M3 - Review article
AN - SCOPUS:85018234013
VL - 5
SP - 158
EP - 167
JO - Intractable and Rare Diseases Research
JF - Intractable and Rare Diseases Research
SN - 2186-3644
IS - 3
ER -