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Could Alzheimer’s drug help those with Down’s syndrome?

Posted in Learning disability, Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on October 22, 2008

According to a report in the Belleville News Democrat, a new study is underway to test whether drugs used to treat patients with Alzheimer’s could also improve the cognitive abilities of people with Down’s syndrome.

According to the report initial trials of drugs like Aricept and Exelon “appear to increase skill levels in children with Down syndrome in just a few months”. Details of the US-wide study are available here.

Organisers are looking for 2,000 participants at 200 sites across the US. Potential participants should be between 6 and 17 years of age, diagnosed with Down’s syndrome, and able to see, hear, communicate and walk.

The news story indicates that the drugs were originally given to patients with Down’s syndrome in an attempt to delay the onset of Alzheimer’s but were found to improve communication skills. It quotes Dr. John Boeren, who is behind the trials, in his explanation of the potential impact of even a small improvement:

“What they found is that over a relatively short period of time with careful testing, they saw an improvement in children’s communication skills, they saw some measurable improvement in understanding and they saw an improvement in activities of daily life,” Boeren said.

“It wasn’t tremendous. It’s not life-altering — yet, in a way it is. If you have a child that is maybe functioning on a 5-year-old level and you get him up to a level of a 7-year-old, that’s a big difference as far as what he can do for himself, how well he can communicate with the family and so on.”


A quick look at pentylenetetrazole

Posted in Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on October 17, 2008

I recently mentioned some research that had indicated that a drug called pentylenetetrazole, or PTZ, could improve learning and memory in people with Down’s syndrome.

As this research was published in my pre-Down’s awareness days I thought it would be worth reviewing what it, and PTZ, was all about.

According to this announcement from the Down’s syndrome Association the research, carried out at Stanford University, proved that daily treatment with PTZ improved learning and memory in mice with Down’s syndrome symptoms.

As The Telegraph explains: “The researchers believe that the key to the improvement lies in the fact that PTZ blocks the action of an messenger chemical called GABA, which damps down nerve cell activity in the brain. It is thought that Down’s syndrome patients have too much GABA-related inhibition, making it difficult to process information.”

That’s the good news. The bad news?

“The compound is not currently approved for use in humans by the Food and Drug Administration in the US. In high doses it is known to cause seizures.” The researchers naturally cautioned individuals against experimenting with PTZ.

So what is PTZ?

According to the sometimes reliable Wikipedia “It is a drug used as a circulatory and respiratory stimulant. Larger doses cause convulsions, thus it has been used in shock therapy. It was never considered to be effective, and side-effects such as seizures are difficult to avoid. Its approval by FDA was revoked in 1982.”

An article in Scientific American from February last year noted that it caused seizures at doses 100-fold higher than those given to the mice in the tests and that “clinical trials of PTZ could begin in the next year or two, and evaluating them might take five to 10 years.”

So any breakthrough could be a long time coming, if at all. “Many compounds that boost learning in mice fail in human trials,” cautions the report. It also adds that two other compounds – picrotoxin and a gingko biloba extract called bilobalide – were also involved in the tests, the latter of which has also been linked to improving the memory of people with Down’s syndrome.

A breakthrough in treatment research?

Posted in Scientific research, Therapeutic treatments by Matt at WelcometoIllinois on August 8, 2008

News that scientists have been able to create stem cells to enable the testing of treatments for a variety of disorders including Down’s syndrome, is pretty interesting, especially as it avoids some of the issues some campaigners have with the creation of human embryos.

According to The Telegraph, researchers “say these cell lines can be used to mimic human disease more reliably than mice and other animal models and will be a boon for efforts to find new treatments.”

That will make it “possible for researchers to explore the 10 different disorders – including muscular dystrophy, juvenile diabetes, bubble baby immune disorder, Down syndrome and Parkinson’s disease – in a variety of cell and tissue types as they develop in laboratory cultures. These, in turn, can be used to test new drugs.”

From a personal perspective I’m also pleased to see Parkinson’s disease on the list, while even better news comes from the fact that “the scientists hope to make the cell lines available to scientists worldwide on a not for profit basis through a core laboratory funded by the Harvard Stem Cell Institute” in order to accelerate research.

A quick look at the Congressional Down Syndrome Caucus

Posted in Politics, Scientific research, Support services, Therapeutic treatments by Matt at WelcometoIllinois on July 14, 2008

In my investigation of further information on Down’s syndrome I’ve been reading afair bit about the Congressional Down Syndrome Caucus, which was launched before I got this blog up and running. I thought it would be worthwhile taking a quick look at what it is and what it does, as well as whether it could be repeated on this side of the pond.

According to the website of Congresswoman Cathy McMorris Rodgers, the Congressional Down Syndrome Caucus was formed by her along with Congressman Pete Sessions, Congressman Patrick Kennedy, and Congresswoman Eleanor Holmes Norton.

The mission is “to educate members of Congress and their staff about Down syndrome” and “support legislative activities that would improve Down syndrome research, education and treatment and promote public policies that would enhance the quality of life” of the estimated 350,000 individuals with Down syndrome in the US.

The goals of the caucus are as follows:

  • “To raise expectations and improve outcomes in education.
  • To eliminate barriers to economic opportunity in employment and in programs that promotes savings and investment.
  • To promote and fund research that accelerates the development of effective treatments and therapies.
  • Promote the translation of Down syndrome research into effective new treatments through interdisciplinary cooperation among the various NIH institutes, the FDA, the CDC and privately funded scientists and clinicians.
  • To promote inclusiveness for people with Down syndrome.
  • To help provide family support services and a community of care model.
  • Advocate for the rights of those with Down syndrome and make sure those rights are being enforced.”

What is particularly encouraging about the caucus, from my perspective, is that it appears to be agnostic when it comes to issues of religion, ethics or politics. Of the founding Congresspersons, McMorris Rodgers and Sessions are Republicans while Kennedy and Holmes Norton are Democrats.

McMorris Rodgers and her husband have a one-year-old son with Down syndrome.

A quick scan of the list of all-party groups in UK parliament reveals that there is no Down’s syndrome-specific group in the UK, although there are groups related to learning disability and disability in general.

Of course, you can’t have all-party groups for everything, but given there is room for an all-party Jazz appreciation group one wonders whether room might not be made for a Down’s-related group.

Of mice and men and magical drugs

Posted in Scientific research, Screening, Termination, Therapeutic treatments by Matt at WelcometoIllinois on July 6, 2008

Three interesting news reports relating to Down’s syndrome this weekend. First up, Scotland on Sunday reports that Conservative MP Nadine Dorries wants MPs to vote on whether to ban abortions carried out because babies have a club foot or cleft palate.

According to the report, “the bid is opposed by family-planning experts who warn the move could open a legal minefield, raising the question of why other ‘abnormalities’ are not similarly ruled out.”

While I would agree with Dorries’s comment that in cases like Down’s syndrome the decision should be a matter for the parents and doctors, rather than legislators, I would also maintain that this does not mean the issue should not be debated.

I would never knowingly encourage anyone to read the Daily Mail (and this would be why – it never lets the discussion of a sensitive subject prevent it from using hyperbole to stir up some unnecessary controversy – such as “Parents’ fury at ‘Down’s Syndrome dolls'”) but this report about the age of the father potentially impacting the health of the baby is worth reading, if only for the fact that it raises an alternative to the view that the age of the mother must be the causative factor. The story is also covered in The Guardian.

Meanwhile, scientists are starting drug trials on humans with genetic disorders following successful tests that showed they could repair mental impairment in mice, according to this report on Philly.com.

Sounds interesting, although I can’t help feeling sceptical given one of the scientists involved in drugs rhat reversed the learning deficits associated with Down syndrome in mice described them thus: “They would bring the brain completely back online – like magical drugs.”