CMT 1A: The NIH has completed the high-throughput screening program

[Guest guest]

The NIH has completed the high-throughput screening program.

Working with a chemical library of more than 350,000 compounds, the

NIH screened each compound at approximately 7 different dosage levels-

resulting in more than 2 million unique screens.

Out of the 4000 FDA approved drugs, 10 " hits " or candidate medicines

were found. At this point in time, we are not able to divulge the

names of these compounds.

Out of the non-FDA approved drugs, 800 " hits " were discovered.

These 800 hits proved to reduce the amount of PMP22 in the cells,

without causing any damage to the cells.

A second cell assay, created by Svaren, is being sent to the NIH

this week. The 810 hits discovered from the initial screening will be

tested on Svaren's new assay over the summer and the final results

should be released by the end of August.

At this point, we will know more about when the animal model testing

will occur.

We are extremely excited about the progress made by the scientists

involved in the STAR program. Never before has such a large portfolio

of over 800 compounds been tested on a cell line in this fashion.

More about the CMTA's Strategy to Accelerate Research.

NIH Director Dr. Francis Applauds the CMTA's Research and Drug

Development Collaboration with the National Chemical Genomics Center

(NCGC) during Congressional Hearing

On June 15, 2010 the U.S. House of Representatives' Committee on

Energy and Commerce, Subcommittee on Health, held a hearing titled

" NIH in the 21st Century: The Director's Perspective. " Testifying

before the Congressional Subcommittee was NIH-Director Dr. Francis

. During Dr. ' testimony, the following exchange

occurred with Representative Eliot Engel (D-NY)

ENGEL: I'd like to ask you about Charcot-Marie-Tooth Disease. There is

an innovative partnership between the NIH's National Chemical Genomics

Center and the Charcot-Marie-Tooth Association. I've worked with that

association and I think that this could serve as a model of future

rare disease research and drug development, and so I'm wondering if

you could describe the program and offer some thoughts on it.

DR. COLLINS: I appreciate the question because I do agree this is a

very exciting program. My father-in-law has Charcot-Marie-Tooth

disease and so this is a disorder that is not only something from my

clinic but also from my family's experience, and this is an

interesting disorder which causes a weakness of the legs particularly,but also

the hands over the course of time and can be quite debilitating, but it is

well-understand now what the cause of that is...the genetic abnormality has been

now laid out in great clarity, but what could you do about it?

Working with the NIH Genomic Center, which is this remarkable facility that has

been mentioned already at least once in this hearing. It is...an effort is being

made to identify a small molecule, which is sort of a drug that would basically

compensate for the genetic problems that's found in individuals with this type

of Charcot-Marie-Tooth disease, so-called CMT1A, and that is an early stage

effort but it's a good example of this therapeutics for rare and neglected

diseases effort that NIH is putting an increasing effort into.

Charcot-Marie-Tooth is too rare for companies to generally see this as a good

investment for them in terms of developing a therapy. But with the chemical

genomic center working with academic investigators who know a lot about the

disease...if they can push this forward to the point of identifying a promising

compound, then you can imagine a company getting pretty interested in licensing

it out and carrying it all the way through to a clinical trial.

The CMTA commends Representative Engel and the Subcommittee for their

continued support of CMT research. The CMTA is honored to have the

NCGC as a partner in our quest to find therapies and cures for CMT,

and is greatly appreciative of Dr. and his colleagues

throughout the NIH for their commitment to rare disease research and

drug development.

Additional information about the hearing, including a full transcript of Dr.

' testimony can be found at http://energycommerce.house.gov.