Two autism-related disorders — fragile X syndrome and tuberous sclerosis complex — share disruptions in the immune system despite major differences in the individual genes affected, reports a study in Molecular Autism. An abnormally regulated immune system is linked to some forms of autism, but exactly how genetic changes in the immune system contribute to autism is unclear.
According to a recent study in the journal Intellectual and Developmental Disabilities, most people who work with special-needs children lack basic knowledge about Fragile X syndrome, even though it is the leading cause of inherited intellectual disability. Most people studied did not know many of the symptoms of the syndrome or how best to support children with Fragile X syndrome.
Nelson Freimer and colleagues at UCLA studied a population in an isolated area of Finland where Schizophrenia is more common than in the average Finnish population. In this small group, it was discovered that the presence of a deletion on part of chromosome 22 was much more prevalent than in the rest of the population. This deleted region normally contains an enzyme, TOP3B. This lack of TOP3B is also linked to disruptions that can lead to Fragile X Syndrome, showing there may be a biological link between Fragile X and Schizophrenia.
This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.
Institute for Basic Research/ The Seaver Autism Center
New York Fragile X Clinical Trials Accepting Participants
(The following are four separate trials):
Trials at IBR (Institute for Basic Research) on Staten Island
IBR on Staten Island is now screening adolescents as well as adults for a trial of AFQ056 from Novartis. Males aged 12-45 who have Fragile X may be eligible. This trial runs for 4 months and offers an extension phase in which participants can take the drug free of charge.
IBR is also running a trial of arbaclofen from Seaside Therapeutics for boys and girls ages 5-11 who have Fragile X; this trial includes an extension phase as well. Seaside has completed enrollment for their trials of arbaclofen for ages 12-50.