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The objectives of this study are to determine the safety and tolerability of single oral doses of STX107 and to determine basic pharmacokinetic (PK) parameters following single oral doses of STX107 when administered via an oral suspension
Allocation: Randomized, Control: Placebo Control, Endpoint Classification: Safety Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment
Fragile X Syndrome
Covance Clinical Research Unit
Seaside Therapeutics, LLC
Published on BioPortfolio: 2014-08-27T03:19:49-0400
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant. It is a con...
The purpose of this study is to determine whether NNZ-2566 is safe and well tolerated in the treatment of Fragile X Syndrome in adolescent and adult males.
The purpose of this study is to assess the safety, tolerability and efficacy of oral OV101 (gaboxadol) in subjects with Fragile X syndrome.
This randomized, double-blind multiple ascending dose study will evaluate the safety and tolerability, pharmacokinetics and efficacy of RO4917523 in patients with Fragile X Syndrome. The p...
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 years. Participants will be randomized in a double-blind design to either ...
Fragile X Syndrome is the most common cause of inherited intellectual disabilities and autism spectrum disorders and it is an X-linked disorder in which there is a deficiency of the Fragile X Mental R...
Executive function and information processing speed deficits occur in fragile X premutation carriers (PMC) with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Gait is negatively impa...
Social anxiety is a common disorder that has negative impacts across multiple domains of function. Several clinical groups are at elevated risk for social anxiety, including those with fragile X syndr...
Fragile X Syndrome (FXS) and Down Syndrome (DS) are common causes of Intellectual Disability (ID). Mothers of individuals with FXS sometimes have the premutation condition which makes them display neu...
Gamma oscillations (∼25-100 Hz) are believed to play a role in cognition. Accordingly, aberrant gamma oscillations have been observed in several cognitive disorders, including Alzheimer's disease ...
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Homer proteins belong to a family of adaptor and scaffold proteins which include Homer1, Homer2 and Homer3. Homer1 and Homer2 play a role in the regulation of calcium homeostasis, whereas Homer3 functions in stimulating changes in actin dynamics in neurons and T-cells. Homer proteins are best known as scaffold proteins at the post-synaptic density where they facilitate synaptic signaling. They function as a molecular switch in metabotropic glutamate receptor (MGluR) signaling, and are associated with human Fragile X syndrome.
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase 'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...