Re: Good news for patients with a Stop-Mutation

[Guest guest]

Does this only affect those children with an X mutation? What about the

Delta F508??? No X there....

Maggie Lefebvre

[Guest guest]

Does this only affect those children with an X mutation? What about the

Delta F508??? No X there....

Maggie Lefebvre

[Guest guest]

No, but I have one deltaf508 mutation and one R1162X--after many genetic

tests, it seems finally to be clear--so I fall in both categories.

n

[Guest guest]

No, but I have one deltaf508 mutation and one R1162X--after many genetic

tests, it seems finally to be clear--so I fall in both categories.

n

[Guest guest]

No, but I have one deltaf508 mutation and one R1162X--after many genetic

tests, it seems finally to be clear--so I fall in both categories.

n

[Guest guest]

Do you mind me asking, you have the deltaf508 and the R1162x? My son has

these mutations

[Guest guest]

Do you mind me asking, you have the deltaf508 and the R1162x? My son has

these mutations

[Guest guest]

Do you mind me asking, you have the deltaf508 and the R1162x? My son has

these mutations

[Guest guest]

Can someone repost this original message or article?

Or send just to me: lenora@...

Thanks,

Lenora

Mom to a child with F508 + G542x (looking for good news)

>Does this only affect those children with an X mutation? What about the

>Delta F508??? No X there....

>

>Maggie Lefebvre

>

>

>

[Guest guest]

Hi Lenora,

here's the replay, especially for you :-)) And I found that Barbi's

website is still up at

http://www.curecf.com/curecf/index.htm

Maggie,

this cure (if it is one) will only work for stop-mutations. But other

meds like CPX are designed especially for the dF508 mutation.

Torsten

GERM-KILLER MAY LET BODY IGNORE SOME

DNA DEFECTS AND EASE GENETIC

DISEASES

By MALCOLM RITTER

The Associated Press

9/22/02 1:17 PM

NEW YORK (AP) -- Can an old germ-killer provide a new weapon against

genetic disease?

Some researchers battling such diseases as cystic fibrosis, muscular

dystrophy and hemophilia hope so.

Intrigued by a handful of preliminary studies, they are giving the

antibiotic

gentamicin to carefully selected patients suffering from those

conditions.

The weird thing is that nobody is asking gentamicin to kill germs.

Rather,

scientists hope to show that the drug can counteract the genetic

defects

that made those patients sick. And if that's true, scientists say, it

could

signal a new treatment strategy that goes far beyond those three

diseases.

" I'm most excited when I think about the general potential, " said Dr.

Steve

Sommer of the City of Hope National Medical Center in Duarte, Calif.,

who

has begun the hemophilia study.

" In theory, it can work for any (genetic) disease. "

Gentamicin has been used for more than 30 years in the United States.

It's generally given to treat a variety of infections, including

those of the

urinary tract or dangerous blood infections called sepsis in newborns.

When it comes to genetic disease, scientists already know that

gentamicin and other drugs that act like it can't be a cure-all.

That's

because the kind of defect gentamicin targets shows up in only a

fraction

of people with a given genetic disease.

It's too soon to tell if the approach will really help anybody, and

experts

caution that patients should not try it on their own. For one thing,

gentamicin use runs the risk of side effects like hearing loss and

kidney

damage.

But scientists hope the medicine will lead them to more benign drugs

that

have the same effect. It might inspire research that finds drugs that

work

against other kinds of mutations. And in the meantime, some say, the

old

antibiotic itself might help the right patients.

In the new studies:

-- Cystic fibrosis patients at several medical centers around the

country

will use a gentamicin nose spray to see if it spurs production of a

crucial

protein in the nose. It's the lack of this protein in the lungs and

elsewhere

that causes the disease. The nose is simply a convenient place to

look for

an effect.

People with cystic fibrosis suffer from persistent coughing and

potentially

fatal lung infections. Scientists hope that eventually, drugs like

gentamicin

will aid lung functioning in patients, helping them lead healthier,

longer

lives. Some 5 percent to 10 percent of cystic fibrosis patients in

general --

but the majority of patients of Ashkenazi Jewish descent -- have the

kind

of defect gentamicin targets.

-- Three dozen Duchenne muscular dystrophy patients, ages 5 to 15,

will

enter a six-month study at Ohio State University. Scientists will see

whether gentamicin makes their muscles stronger.

Duchenne sufferers also lack a key protein, and the result is muscles

that

waste and weaken. A preschooler may have trouble climbing stairs or

running; most patients lose their ability to walk by age 12.

Gentamicin

probably couldn't restore walking ability because so much muscle would

have been lost already. So doctors would want to use it early in the

disease.

Up to 15 percent of Duchenne patients have the kind of mutation that

might yield to gentamicin.

-- Thirty hemophilia patients in Sommer's study will take gentamicin

injections over three days to see whether their livers will start

making a

fully functional clotting protein. It's the lack of such a protein

that causes

their disease.

Patients with the bleeding disorder can lead relatively normal lives

now by

injecting a genetically engineered replacement protein, but Sommer

hopes

the gentamicin work could lead to a pill instead. And for developing

countries, where the replacement protein is prohibitively expensive,

Sommer said, even injected gentamicin offers the hope of an affordable

drug that could save children who now die.

The class of mutation targeted by gentamicin appears in about 10

percent

of patients with the most common kind of hemophilia, and about 30

percent of severe cases of the less common kind. Sommer's work is

supported by grants from the National Hemophilia Foundation and the

federal government.

With the new studies, scientists hope to strengthen the case that

gentamicin and other " aminoglycoside " antibiotics can treat genetic

disease by helping patients produce key proteins. Normally, patients

with

a particular kind of genetic defect make only incomplete proteins,

and the

drugs are expected to encourage their bodies to finish the job. Such

drugs

wouldn't lead to normal levels of protein, but for many diseases,

even a

limited amount can help.

Scientists have known for decades that antibiotics like gentamicin can

counter this kind of genetic defect in yeast cells. But it wasn't

until 1996

that Bedwell, a microbiologist at the University of Alabama at

Birmingham, and his colleagues demonstrated the effect in human cells

with a mutated cystic fibrosis gene.

And in 1999, H. Lee Sweeney at the University of Pennsylvania School

of

Medicine showed the same result in mice that couldn't ordinarily make

dystrophin, the protein lacking in Duchenne muscular dystrophy. With

treatment, the mice made enough dystrophin to protect their muscles.

Sweeney's paper galvanized efforts to look at antibiotics for genetic

diseases, says one researcher in the field, of the

University of Utah.

" I think seeing it in a living organism like a mouse made it much more

dramatic and much more believable that it might work, " he said.

Already, the search for better drugs has shown some promise, said

Sweeney, who's working with PTC Therapeutics in South Plainfield, N.J.

" We actually have a few that look more promising than gentamicin at

this

point, " he said. In the next year or two, one might be ready for

studies in

people, he said.

So far, previous research with gentamicin in patients has been very

limited

and preliminary.

In muscular dystrophy, two small studies found no direct sign of

dystrophin production but did find evidence suggesting that muscle

damage from the disease was reduced.

Dr. Jerry Mendell, a neurologist at Ohio State who led one of the

studies,

is launching the new follow-up with support from the Muscular

Dystrophy

Association and the federal government. He suspects both prior studies

may have overlooked a real increase in dystrophin production.

In cystic fibrosis, two researchers who found encouraging signs in

preliminary studies of the nose are following up. Dr. J.P. Clancy, a

colleague of Bedwell's at Birmingham, is leading a bigger study with

support from the Cystic Fibrosis Foundation. And Dr.

Wilschanski

of the Shaare Zedek Medical Center in Jersualem, is continuing work as

well.

" I see great promise in this avenue of research, " Wilschanski said.

He said he gets e-mails regularly from around the world, from parents

of

cystic fibrosis patients, asking how the research is progressing.

That " tells me I have to keep going, " Wilschanski said.

[Guest guest]

Hi Lenora,

here's the replay, especially for you :-)) And I found that Barbi's

website is still up at

http://www.curecf.com/curecf/index.htm

Maggie,

this cure (if it is one) will only work for stop-mutations. But other

meds like CPX are designed especially for the dF508 mutation.

Torsten

GERM-KILLER MAY LET BODY IGNORE SOME

DNA DEFECTS AND EASE GENETIC

DISEASES

By MALCOLM RITTER

The Associated Press

9/22/02 1:17 PM

NEW YORK (AP) -- Can an old germ-killer provide a new weapon against

genetic disease?

Some researchers battling such diseases as cystic fibrosis, muscular

dystrophy and hemophilia hope so.

Intrigued by a handful of preliminary studies, they are giving the

antibiotic

gentamicin to carefully selected patients suffering from those

conditions.

The weird thing is that nobody is asking gentamicin to kill germs.

Rather,

scientists hope to show that the drug can counteract the genetic

defects

that made those patients sick. And if that's true, scientists say, it

could

signal a new treatment strategy that goes far beyond those three

diseases.

" I'm most excited when I think about the general potential, " said Dr.

Steve

Sommer of the City of Hope National Medical Center in Duarte, Calif.,

who

has begun the hemophilia study.

" In theory, it can work for any (genetic) disease. "

Gentamicin has been used for more than 30 years in the United States.

It's generally given to treat a variety of infections, including

those of the

urinary tract or dangerous blood infections called sepsis in newborns.

When it comes to genetic disease, scientists already know that

gentamicin and other drugs that act like it can't be a cure-all.

That's

because the kind of defect gentamicin targets shows up in only a

fraction

of people with a given genetic disease.

It's too soon to tell if the approach will really help anybody, and

experts

caution that patients should not try it on their own. For one thing,

gentamicin use runs the risk of side effects like hearing loss and

kidney

damage.

But scientists hope the medicine will lead them to more benign drugs

that

have the same effect. It might inspire research that finds drugs that

work

against other kinds of mutations. And in the meantime, some say, the

old

antibiotic itself might help the right patients.

In the new studies:

-- Cystic fibrosis patients at several medical centers around the

country

will use a gentamicin nose spray to see if it spurs production of a

crucial

protein in the nose. It's the lack of this protein in the lungs and

elsewhere

that causes the disease. The nose is simply a convenient place to

look for

an effect.

People with cystic fibrosis suffer from persistent coughing and

potentially

fatal lung infections. Scientists hope that eventually, drugs like

gentamicin

will aid lung functioning in patients, helping them lead healthier,

longer

lives. Some 5 percent to 10 percent of cystic fibrosis patients in

general --

but the majority of patients of Ashkenazi Jewish descent -- have the

kind

of defect gentamicin targets.

-- Three dozen Duchenne muscular dystrophy patients, ages 5 to 15,

will

enter a six-month study at Ohio State University. Scientists will see

whether gentamicin makes their muscles stronger.

Duchenne sufferers also lack a key protein, and the result is muscles

that

waste and weaken. A preschooler may have trouble climbing stairs or

running; most patients lose their ability to walk by age 12.

Gentamicin

probably couldn't restore walking ability because so much muscle would

have been lost already. So doctors would want to use it early in the

disease.

Up to 15 percent of Duchenne patients have the kind of mutation that

might yield to gentamicin.

-- Thirty hemophilia patients in Sommer's study will take gentamicin

injections over three days to see whether their livers will start

making a

fully functional clotting protein. It's the lack of such a protein

that causes

their disease.

Patients with the bleeding disorder can lead relatively normal lives

now by

injecting a genetically engineered replacement protein, but Sommer

hopes

the gentamicin work could lead to a pill instead. And for developing

countries, where the replacement protein is prohibitively expensive,

Sommer said, even injected gentamicin offers the hope of an affordable

drug that could save children who now die.

The class of mutation targeted by gentamicin appears in about 10

percent

of patients with the most common kind of hemophilia, and about 30

percent of severe cases of the less common kind. Sommer's work is

supported by grants from the National Hemophilia Foundation and the

federal government.

With the new studies, scientists hope to strengthen the case that

gentamicin and other " aminoglycoside " antibiotics can treat genetic

disease by helping patients produce key proteins. Normally, patients

with

a particular kind of genetic defect make only incomplete proteins,

and the

drugs are expected to encourage their bodies to finish the job. Such

drugs

wouldn't lead to normal levels of protein, but for many diseases,

even a

limited amount can help.

Scientists have known for decades that antibiotics like gentamicin can

counter this kind of genetic defect in yeast cells. But it wasn't

until 1996

that Bedwell, a microbiologist at the University of Alabama at

Birmingham, and his colleagues demonstrated the effect in human cells

with a mutated cystic fibrosis gene.

And in 1999, H. Lee Sweeney at the University of Pennsylvania School

of

Medicine showed the same result in mice that couldn't ordinarily make

dystrophin, the protein lacking in Duchenne muscular dystrophy. With

treatment, the mice made enough dystrophin to protect their muscles.

Sweeney's paper galvanized efforts to look at antibiotics for genetic

diseases, says one researcher in the field, of the

University of Utah.

" I think seeing it in a living organism like a mouse made it much more

dramatic and much more believable that it might work, " he said.

Already, the search for better drugs has shown some promise, said

Sweeney, who's working with PTC Therapeutics in South Plainfield, N.J.

" We actually have a few that look more promising than gentamicin at

this

point, " he said. In the next year or two, one might be ready for

studies in

people, he said.

So far, previous research with gentamicin in patients has been very

limited

and preliminary.

In muscular dystrophy, two small studies found no direct sign of

dystrophin production but did find evidence suggesting that muscle

damage from the disease was reduced.

Dr. Jerry Mendell, a neurologist at Ohio State who led one of the

studies,

is launching the new follow-up with support from the Muscular

Dystrophy

Association and the federal government. He suspects both prior studies

may have overlooked a real increase in dystrophin production.

In cystic fibrosis, two researchers who found encouraging signs in

preliminary studies of the nose are following up. Dr. J.P. Clancy, a

colleague of Bedwell's at Birmingham, is leading a bigger study with

support from the Cystic Fibrosis Foundation. And Dr.

Wilschanski

of the Shaare Zedek Medical Center in Jersualem, is continuing work as

well.

" I see great promise in this avenue of research, " Wilschanski said.

He said he gets e-mails regularly from around the world, from parents

of

cystic fibrosis patients, asking how the research is progressing.

That " tells me I have to keep going, " Wilschanski said.

[Guest guest]

Hi Lenora,

here's the replay, especially for you :-)) And I found that Barbi's

website is still up at

http://www.curecf.com/curecf/index.htm

Maggie,

this cure (if it is one) will only work for stop-mutations. But other

meds like CPX are designed especially for the dF508 mutation.

Torsten

GERM-KILLER MAY LET BODY IGNORE SOME

DNA DEFECTS AND EASE GENETIC

DISEASES

By MALCOLM RITTER

The Associated Press

9/22/02 1:17 PM

NEW YORK (AP) -- Can an old germ-killer provide a new weapon against

genetic disease?

Some researchers battling such diseases as cystic fibrosis, muscular

dystrophy and hemophilia hope so.

Intrigued by a handful of preliminary studies, they are giving the

antibiotic

gentamicin to carefully selected patients suffering from those

conditions.

The weird thing is that nobody is asking gentamicin to kill germs.

Rather,

scientists hope to show that the drug can counteract the genetic

defects

that made those patients sick. And if that's true, scientists say, it

could

signal a new treatment strategy that goes far beyond those three

diseases.

" I'm most excited when I think about the general potential, " said Dr.

Steve

Sommer of the City of Hope National Medical Center in Duarte, Calif.,

who

has begun the hemophilia study.

" In theory, it can work for any (genetic) disease. "

Gentamicin has been used for more than 30 years in the United States.

It's generally given to treat a variety of infections, including

those of the

urinary tract or dangerous blood infections called sepsis in newborns.

When it comes to genetic disease, scientists already know that

gentamicin and other drugs that act like it can't be a cure-all.

That's

because the kind of defect gentamicin targets shows up in only a

fraction

of people with a given genetic disease.

It's too soon to tell if the approach will really help anybody, and

experts

caution that patients should not try it on their own. For one thing,

gentamicin use runs the risk of side effects like hearing loss and

kidney

damage.

But scientists hope the medicine will lead them to more benign drugs

that

have the same effect. It might inspire research that finds drugs that

work

against other kinds of mutations. And in the meantime, some say, the

old

antibiotic itself might help the right patients.

In the new studies:

-- Cystic fibrosis patients at several medical centers around the

country

will use a gentamicin nose spray to see if it spurs production of a

crucial

protein in the nose. It's the lack of this protein in the lungs and

elsewhere

that causes the disease. The nose is simply a convenient place to

look for

an effect.

People with cystic fibrosis suffer from persistent coughing and

potentially

fatal lung infections. Scientists hope that eventually, drugs like

gentamicin

will aid lung functioning in patients, helping them lead healthier,

longer

lives. Some 5 percent to 10 percent of cystic fibrosis patients in

general --

but the majority of patients of Ashkenazi Jewish descent -- have the

kind

of defect gentamicin targets.

-- Three dozen Duchenne muscular dystrophy patients, ages 5 to 15,

will

enter a six-month study at Ohio State University. Scientists will see

whether gentamicin makes their muscles stronger.

Duchenne sufferers also lack a key protein, and the result is muscles

that

waste and weaken. A preschooler may have trouble climbing stairs or

running; most patients lose their ability to walk by age 12.

Gentamicin

probably couldn't restore walking ability because so much muscle would

have been lost already. So doctors would want to use it early in the

disease.

Up to 15 percent of Duchenne patients have the kind of mutation that

might yield to gentamicin.

-- Thirty hemophilia patients in Sommer's study will take gentamicin

injections over three days to see whether their livers will start

making a

fully functional clotting protein. It's the lack of such a protein

that causes

their disease.

Patients with the bleeding disorder can lead relatively normal lives

now by

injecting a genetically engineered replacement protein, but Sommer

hopes

the gentamicin work could lead to a pill instead. And for developing

countries, where the replacement protein is prohibitively expensive,

Sommer said, even injected gentamicin offers the hope of an affordable

drug that could save children who now die.

The class of mutation targeted by gentamicin appears in about 10

percent

of patients with the most common kind of hemophilia, and about 30

percent of severe cases of the less common kind. Sommer's work is

supported by grants from the National Hemophilia Foundation and the

federal government.

With the new studies, scientists hope to strengthen the case that

gentamicin and other " aminoglycoside " antibiotics can treat genetic

disease by helping patients produce key proteins. Normally, patients

with

a particular kind of genetic defect make only incomplete proteins,

and the

drugs are expected to encourage their bodies to finish the job. Such

drugs

wouldn't lead to normal levels of protein, but for many diseases,

even a

limited amount can help.

Scientists have known for decades that antibiotics like gentamicin can

counter this kind of genetic defect in yeast cells. But it wasn't

until 1996

that Bedwell, a microbiologist at the University of Alabama at

Birmingham, and his colleagues demonstrated the effect in human cells

with a mutated cystic fibrosis gene.

And in 1999, H. Lee Sweeney at the University of Pennsylvania School

of

Medicine showed the same result in mice that couldn't ordinarily make

dystrophin, the protein lacking in Duchenne muscular dystrophy. With

treatment, the mice made enough dystrophin to protect their muscles.

Sweeney's paper galvanized efforts to look at antibiotics for genetic

diseases, says one researcher in the field, of the

University of Utah.

" I think seeing it in a living organism like a mouse made it much more

dramatic and much more believable that it might work, " he said.

Already, the search for better drugs has shown some promise, said

Sweeney, who's working with PTC Therapeutics in South Plainfield, N.J.

" We actually have a few that look more promising than gentamicin at

this

point, " he said. In the next year or two, one might be ready for

studies in

people, he said.

So far, previous research with gentamicin in patients has been very

limited

and preliminary.

In muscular dystrophy, two small studies found no direct sign of

dystrophin production but did find evidence suggesting that muscle

damage from the disease was reduced.

Dr. Jerry Mendell, a neurologist at Ohio State who led one of the

studies,

is launching the new follow-up with support from the Muscular

Dystrophy

Association and the federal government. He suspects both prior studies

may have overlooked a real increase in dystrophin production.

In cystic fibrosis, two researchers who found encouraging signs in

preliminary studies of the nose are following up. Dr. J.P. Clancy, a

colleague of Bedwell's at Birmingham, is leading a bigger study with

support from the Cystic Fibrosis Foundation. And Dr.

Wilschanski

of the Shaare Zedek Medical Center in Jersualem, is continuing work as

well.

" I see great promise in this avenue of research, " Wilschanski said.

He said he gets e-mails regularly from around the world, from parents

of

cystic fibrosis patients, asking how the research is progressing.

That " tells me I have to keep going, " Wilschanski said.

[Guest guest]

My daughter is also F508 and G542X.

Lori in Florida

Re: Good news for patients with a Stop-Mutation

Can someone repost this original message or article?

Or send just to me: lenora@...

Thanks,

Lenora

Mom to a child with F508 + G542x (looking for good news)

>Does this only affect those children with an X mutation? What about the

>Delta F508??? No X there....

>

>Maggie Lefebvre

>

>

>

[Guest guest]

My daughter is also F508 and G542X.

Lori in Florida

Re: Good news for patients with a Stop-Mutation

Can someone repost this original message or article?

Or send just to me: lenora@...

Thanks,

Lenora

Mom to a child with F508 + G542x (looking for good news)

>Does this only affect those children with an X mutation? What about the

>Delta F508??? No X there....

>

>Maggie Lefebvre

>

>

>

[Guest guest]

My daughter is also F508 and G542X.

Lori in Florida

Re: Good news for patients with a Stop-Mutation

Can someone repost this original message or article?

Or send just to me: lenora@...

Thanks,

Lenora

Mom to a child with F508 + G542x (looking for good news)

>Does this only affect those children with an X mutation? What about the

>Delta F508??? No X there....

>

>Maggie Lefebvre

>

>

>