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Recent News and Articles on the Keywords: rare diseases + rare genetic + drug  Related to the article below (Last Update: 5/13/2008)

Province to fund teen's treatment
Calgary Herald,  Canada -
Myozyme is one of several new therapies -- so-called "orphan drugs" -- that are emerging to treat rare diseases like Pompe, but the treatments can be ...

PR Web (press release)
Senior Research Analyst Christopher Raymond Discusses Potential ...
PR Web (press release), WA -
One example is a drug called Kuvan, which treats a disease called phenylketonuria (PKU), a rare genetic metabolic disorder primarily affecting children. ...
When an orphan drug is a patient's only hope
Globe and Mail, Canada - Apr 14, 2008
Canada's lack of an orphan drug policy - to treat orphan, or rare, diseases - and the unequal access to medications for these diseases is what North ...

Wall Street Journal Blogs
Canada Flummoxed by High Drug Prices for Rare Diseases
Wall Street Journal Blogs, NY - Apr 14, 2008
A drug called Elaprase, approved for a rare genetic disorder called Hunter Syndrome, costs roughly $400000 a year in Canada, the Globe and Mail reports. ...
Neuroblastoma ? Linking a Common Allele to a Rare Disease
New England Journal of Medicine (subscription), MA - May 7, 2008
Thus, the somatic genetic aberrations with confirmed or suspected relevance to prognosis are distinctly rare in constitutional karyotypes of patients with ...
Clinical Data?s FAMILION ? Family of Tests to be Highlighted by ...
Business Wire (press release), CA - May 9, 2008
The FAMILION family of tests detects genetic mutations that can cause cardiac channelopathies. Cardiac channelopathies are rare, potentially lethal heart ...CLDA
Genomic Research and Personalized Medicine: An Expert Interview
Medscape (subscription) - May 8, 2008
It has a very useful listing of what kinds of tests are currently possible, both for rare diseases and common diseases, and what laboratories are offering ...
Lev Pharmaceuticals Announces Cinryze(TM) Complete Response ...
FOXBusiness - May 6, 2008
HAE is a rare, severely debilitating, life-threatening genetic disorder caused by a deficiency of C1 inhibitor, a human plasma protein. ...OTC:LEVP
DIA/FDA Workshop to Discuss the Future of the Orphan Drug Act
PharmaLive.com (press release), PA - Apr 21, 2008
... Drug Evaluation and Research, FDA Sharon F. Terry, MA, Genetic Alliance Yann Le Cam, MBA, EURORDIS Stephen C. Groft, PharmD, Office of Rare Diseases, ...

Economist
Gene therapy Seeing is believing
Economist, UK - May 1, 2008
The first human gene-therapy trial was in 1990, on a rare and severe immunodeficiency disease known as SCID. Although questions remain about whether the ...
Source: Google News

Pharmacogenetics and future drug development and delivery -
AD Roses - The Lancet, 2000 - Elsevier
... over the meaning of ?genetic testing? (figure ... in drug-metabolism enzymes and drug
target genes ... is a familiar model, especially for rare diseases when fetal ...

Genetic manipulation of genomes with rare-cutting endonucleases -
M Jasin - Trends in Genetics, 1996 - Elsevier
... the development of products for rare diseases also needs ... of gene genetic counseling
and genetic testing programs ... clinical-grade, DNA-based trial drugs for gene ...

Drugs for exceptionally rare diseases: do they deserve special status for funding? -
DA Hughes, B Tunnage, ST Yeo - QJM, 2005 - Oxford Univ Press
... sample size to test treatments for very rare diseases. ... licence for L-carnitine in
genetic carnitine deficiency ... ultra-orphan drugs for chronic diseases is often ...

… : National Heart, Lung, and Blood Institute and Office of Rare Diseases (National Institutes of … -
GD Pearson, JC Veille, S Rahimtoola, J Hsia, CM … - JAMA: The Journal of the American Medical Association, 2000 - jama.waldenu.edu
... 36 These drugs are not contraindicated in pregnancy ... Peripartum cardiomyopathy is
a rare disease of unknown ... with infectious, inflammatory, genetic, hormonal, or ...
-

DNA Photodamage Stimulates Melanogenesis and Other Photoprotective Responses -
BA Gilchrest, MS Eller - Journal of Investigative Dermatology Symposium Proceedings, 1999 - nature.com
... over 60,000 patients (http://www.rarediseases.org ... The International Rare Disease
Support Network (IRDSN) offers support groups for over 1200 diseases (http://www ...

Pharmacogenetics?five decades of therapeutic lessons from genetic diversity -
UA Meyer - clinic, 2003 - ca.uky.edu
... included a number of genetic disorders or ... WARFARIN resistance.Classic ?pharmacogenetic
diseases? include inducible ... these inborn errors are rare, with the ...

[PDF] Pharmacogenetics and the practice of medicine -
AD Roses - Nature, 2000 - mendel.ugr.es
... Pharmacogenetics is the study of how genetic differences influence the variability ...
Other than relatively rare and highly penetrant diseases related to ...
-

… Future Directions: Report of a National Heart, Lung and Blood Institute/Office of Rare Diseases -
JH Newman, BL Fanburg, SL Archer, DB Badesch, RJ … - Circulation, 2004 - Am Heart Assoc
... or without cirrhosis, and anorectic drug ingestion. ... and the Office of Rare Diseases
(ORD), National ... Molecular genetic studies have demonstrated mutations in a ...

Long- range mapping of gaps and telomeres with RecA- assisted restriction endonuclease (RARE) … -
N Biotechnology, N Methods, N Conferences, D … - Nature Genetics, 1994 - nature.com
... DNA: RecA-Assisted Restriction Endonuclease (RARE) cleavage ... hybrid mapping: a somatic
cell genetic method for ... a possible location of the Huntington disease gene ...

Hematopoietic competence is a rare property of neural stem cells that may depend on genetic and … -
KA D'Amour, FH Gage - Nature Medicine, 2002 - nature.com
... their promise of treating a variety of human diseases. ... Second, the epigenetic and
genetic alterations that are known ... require an event that is rare and possibly ...

Source: Google Scholar

Drug Approved to Treat Rare Genetic Disease

WASHINGTON (AP) -- The first drug treatment for the rare but potentially deadly inherited disease Hunter Syndrome was approved Monday by the Food and Drug Administration.

Shire Human Genetic Therapies of Cambridge, Mass., manufacturer of Elaprase, said it plans to have the drug available in the United States within 30 days.

The FDA approved Elaprase, also known as idursulfase, as an "orphan" drug. Orphan drugs are developed to treat illnesses that affect relatively small numbers of people and the manufacturer is granted a seven-year period of exclusive marketing.

Treatment is estimated to cost $300,000 per patient per year, according to Shire.

The FDA said Hunter Syndrome is diagnosed in approximately one out of 65,000 to 132,000 births.

"Regulatory approval of Elaprase will enable physicians to move needy patients beyond palliative care and make Hunter Syndrome a treatable disease," said Dr. Joseph Muenzer of the University of North Carolina at Chapel Hill, who conducted many of the trials of the product.

The illness affects mainly males, usually being diagnosed between the ages of 1 and 3, and makes the body unable to break down complex sugars.

Shire said Elaprase, which is given as a weekly infusion, replaces the missing enzyme that Hunter Syndrome patients fail to produce in sufficient quantities and can slow or stop progression of the disease.

Symptoms of the syndrome include growth delay, joint stiffness, coarsening of facial features and, in severe cases, patients experience respiratory and cardiac problems, enlargement of the liver and spleen, neurological deficits and death.

FDA said the new drug was approved following a placebo-controlled study of 96 patients with Hunter Syndrome. Treated participants had an improved capacity to walk and at the end of the 53-week trial, patients who received Elaprase infusions experienced on average a 38-yard greater increase in the distance walked in six minutes compared to the patients on placebo.

However, some serious side effects were reported including hypersensitivity reactions that could be life-threatening, the agency said. These included respiratory distress, drop in blood pressure and seizure.

Because of the potential for severe hypersensitivity reactions, appropriate medical support should be readily available when Elaprase is administered, FDA said.

Drug Experts Urge Better Prison Treatment

CHICAGO (AP) -- In its first report aimed at improving how the criminal justice system deals with drug addicts, the National Institute on Drug Abuse offered 13 guidelines Monday for what works - and what fails.

The key is understanding that drug addiction is a brain disease that affects behavior, and that it requires carefully monitored, personalized treatment, including access to medication such as methadone after the drug offender is released into society, the institute said.

"What does not work? Putting a person who is addicted to drugs in jail for five or 10 years and thinking that will cure him with no treatment," said Dr. Nora Volkow, director of the anti-drug abuse agency. "The likelihood of that person relapsing is very high."

The guidelines urge a mix of traditionally liberal and conservative approaches.

The institute argues that prisons and court-ordered treatment programs don't use methadone and other addiction medications enough. At the same time, the guidelines support pressuring offenders into treatment as a condition of probation and advocate urine testing during treatment to track and prevent relapses.

"The criminal justice system offers an extraordinary opportunity to help people with drug problems," Volkow said.

Every $1 spent on drug treatment programs also saves the nation an estimated $4 in crime costs, she said. The annual estimated cost to the U.S. for drug crimes is $107 billion.

The drug treatments Cheryl Cline started in an Illinois prison after using crack cocaine for nine years probably saved the 29-year-old's life. This week, she is marking her third drug-free year, and her life has been turned around.

While she was using, Cline said, she lived in an abandoned building or a car, and she shoplifted to support her habit. Today, she works as a waitress, has reunited with her family and is studying to be a drug counselor.

"I'd like people to know that everybody deserves an opportunity for treatment, but when you're on the outside and running wild most people won't take it," said Cline, who lives in Aurora. "Prison is one of the best places to do it because you are confined. You have nothing but time on your hands."

Maia Szalavitz, a drug policy expert not involved with the report, said the guidelines are excellent. Methadone is rarely used in the criminal justice system despite evidence that it helps people addicted to opioids such as heroin, she said.

She faulted the system's current reliance on 12-step programs modeled after Alcoholics Anonymous, which she said works for some people but not everyone.

"If these guidelines help addicts in the justice system to get more sensitive and appropriate care, they will be highly useful," said Szalavitz, a senior fellow at the media watchdog group Statistical Assessment Service. "But if systems are not put in place to ensure that the system rewards treatment excellence and drops harmful and ineffective methods, they won't do much."

---

The National Institute on Drug Abuse issued research-based guidelines for drug treatment in the criminal justice system on Monday.

1. Drug addiction is a brain disease that affects behavior.

2. Recovery from drug addiction requires effective treatment, followed by management of the problem over time.

3. Treatment must last long enough to produce stable behavioral changes.

4. Assessment is the first step in treatment.

5. Tailoring services to fit the needs of the individual is an important part of effective drug abuse treatment for criminal justice populations.

6. Drug use during treatment should be carefully monitored.

7. Treatment should target factors that are associated with criminal behavior.

8. Criminal justice supervision should incorporate treatment planning for drug abusing offenders, and treatment providers should be aware of correctional supervision requirements.

9. Continuity of care is essential for drug abusers re-entering the community.

10. A balance of rewards and sanctions encourages prosocial behavior and treatment participation.

11. Offenders with co-occurring drug abuse and mental health problems often require an integrated treatment approach.

12. Medications are an important part of treatment for many drug abusing offenders.

13. Treatment planning for drug abusing offenders re-entering the community should include strategies to prevent and treat medical conditions such as HIV/AIDS, hepatitis and tuberculosis.

---

Source: "Principles of Drug Abuse Treatment for Criminal Justice Populations," National Institute on Drug Abuse.

 
 
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