Fresh hope in battle vs. muscular dystrophy

[Soldier4Christ]

Fresh hope in battle
vs. muscular dystrophy
Drug tested on mice, now cautiously
trialled on humans, showing promise

A new drug, tested on mice and now being cautiously trialled on humans, shows promise for treating a form of muscular dystrophy and other inherited diseases, a study said on Sunday.

The prototype takes a revolutionary approach at tackling these rare but often crippling disorders by sidestepping genetic flaws that hamper production of a vital protein.

It has been successfully used on lab mice to restore dystrophin, a protein which maintains muscle fibres and is the key player in a tragic wasting disease called Duchenne muscular dystrophy (DMD), the paper said.

Mice genetically engineered to have flawed DNA resulting in DMD had their muscle function restored within just two to eight weeks of being given the drug, it said.

Backed by fast-track authorisation from the US drug watchdog, the researchers are now testing the drug, PTC124, on a small group of DMD patients and on others with cystic fibrosis.

DMD is one of nine forms of muscular dystrophy, a disease in which voluntary muscles become catastrophically weak.

A big subset of DMD cases is caused by so-called nonsense mutations.

These are flaws in DNA that are handed onto RNA, a molecule that is copied from DNA to provide the chemical code for making proteins.

After being duplicated from DNA, RNA goes to a cellular machine called a ribosome, which reads its code as a precursor for making the protein.

But RNA with nonsense mutations sends a premature "stop" message to the ribosome, resulting in a protein that is truncated. As a result, in the case of DMD patients with nonsense mutations, the muscles fail to get dystrophin to replenish themselves.

PTC124 bypasses these erroneous "stop" signals, enabling the ribosome to crank out a full and functional protein.

The researchers are led by Stuart Peltz, head of a New Jersey biopharmaceutical company called PTC Therapeutics, Inc. Their paper was published online on Sunday by Nature, the British science journal.

The team screened 800,000 compounds in a quest for a drug to bypass the coding defect, PTC Therapeutics said in a press release.

PTC124 is an oral drug that can be taken simply, the company said. In addition, it does not have the potential hazards of experimental gene-changing drugs or the burden of enzyme-replacement therapy, which is taken periodically as an intravenous or muscular injection.

Around 1,800 inherited disorders have already been identified where nonsense mutations account for a large percentage of cases, although the genes that they affect are different, PTC Therapeutics said.

In the case of DMD, around 13 percent of cases are linked to these mutations, while in cystic fibrosis, it is as high as 70 percent.

PTC124 is now in the second of a three-phase process of testing new drugs on humans for safety and effectiveness.

Under Phase I, the drug is given to healthy volunteers, to see if there are no bad side-effects.

Phase II entails giving the drug in small doses and for short durations to a group of patients with the disease. If this works, the trial then scales up significantly, to a far wider group and with higher doses and for longer durations.

Two trials are underway among cystic fibrosis patients -- one in the United States, the other in Israel -- while the DMD trial involves 26 patients with DMD, to which another 12 are now being added after early results were satisfactory.

A decision on whether to go to wider trials will be made later this year, PTC Therapeutics spokesman Jane Baj told AFP.

Haemophilia, spinal muscular atrophy, neurofibromatosis, retinitis pigmentosa are among other inherited diseases where nonsense mutations account for a significant number of cases.

DMD typically strikes in early childhood and patients rarely live beyond 30, killed mainly by loss of heart and lung function.

It primarily affects boys, who inherit the flaws from their mother. Around one in every 3,000-5,000 males has the disorder, according to various figures.

[David_james]

Fresh hope or false hope? My only hope is in Jesus

[Soldier4Christ]

My only hope is in Jesus

Amen! That is true for all of us.

[David_james]

what do you guys think about this? And just to comfirm, I do have dmd

[Soldier4Christ]

If it is all that they say it is I would consider it a gift from God.

[David_james]

If it is all that they say it is I would consider it a gift from God.

I was thinking same. Is this something I should hope for? Should I expect a treatment in the near future? Will it even be help because it is so progressed?

[Soldier4Christ]

That is something that you would need to talk with your DR about if and when it becomes available there.

[Shammu]

David James, pray, listen to what God has to say.  As PR said, ask your doctor.  I didn't know you have DMD, I will be praying for you.

[David_james]

looked more into it, wasn't what I thought. You still have to be able to walk or not need a ventilator, I lose on both. Not surprised actually

[Soldier4Christ]

I'm sorry to hear that, David. It was at least still worth looking into.

[nChrist]

Brother David,

I want to tell you something that I hope you already know:  many of us love you in Christ and pray for you every day. In fact, many of us have been praying for each other for a long time, and we will for the rest of our lives.

Quite a few of us have things that won't be cured in this life, but this world isn't our home. We're just here for a very short time. Our citizenship is in Heaven with JESUS CHRIST, and the reality of Eternity is in JESUS CHRIST. We were once of this world - but not any more. If we had a "Passport", it would be as a visitor to this world. JESUS CHRIST will cancel our "Passport" one day and take us home with HIM.

Brother David, even the best human bodies suffer illness and pain, but we are just using these bodies temporarily like we would a tent. This is not the body we will spend Eternity in. As Christians, GOD will give us a Glorified Body like the one JESUS CHRIST has at HIS Appointed time. All of our tears, pain, and suffering will be over forever. We need to be concerned with doing GOD'S Will in this short life and look forward to the Promises of GOD that will be fulfilled most perfectly. GOD'S Promises are so sure that we can consider them already done. We can know day by day that we are children of THE KING OF KINGS. A Promised inheritance awaits us that will be beyond human imagination. BUT, this isn't what we should be most thankful for. JESUS CHRIST paid for our sins, and we have been rescued from the curse of sin and death. I'm more interested in seeing HIM than I am in finding out more about our inheritance. All that we have right now in this life of any great value or worth was given to us from GOD, and I'm not talking about money.

In short, what we look forward to is not in this world. All of the blessings that GOD has given us should give us great JOY and a heart full of appreciation. This is why it makes us happy if GOD uses us and we are able to serve HIM in some way. Yielding to GOD and knowing that HE is working in and through us results in more happiness for Christians. In fact, this is the way to be happy in this short life. The things of this world are all temporary, and none of them result in any lasting happiness. In fact, many of the things of this world result in misery.

The things of the LORD are Eternal!

Love In Christ,
Tom

 

[David_james]

I did know. Thank you for reminder, it is always good to be reminded 

[Faithin1]

Brother David,

I have nothing to add to the eloquent message from Brother Tom, other than to say that I will keep you in prayer.