Today Thanksgiving Day!

Today Thanksgiving Day!

Your help very need to one person. You can to help send your charity donation for my treatment in spring.

Your support very need for me.

My charity account:
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Started cherity action "Help for Monika"

Hi, friends!

Today start Christmas Charity action "Help for Monika". Selling greeting cards for Christmas and New Year with my illustration.
If you will buy this greeting card, we helping me. All money gotten from selling of card will using on my treatment in Italy.

You can will help me. Buy greeting: https://www.redbubble.com/people/artmoni/shop/recent+greeting-cards?ref=portfolio_product_refinement&asc=u

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Story of Gene Tnerapy

For the past few years, I have had a front row seat watching a world-class team at its very best here in Columbus. No, I have not been in Ohio Stadium, but in my office chair at the Research Institute at Nationwide Children’s Hospital.

Last week, the prestigious New England Journal of Medicine published the team’s promising results of a clinical trial in infants with a fatal genetic disorder called spinal muscular atrophy. The research was performed in our Center for Gene Therapy.

SMA, in its most-severe form, is a devastating disease. More than 50 percent of affected babies die by age 2 from severe muscle weakness. They cannot hold their heads up, roll over, sit up or walk.

The clinical trial found a single intravenous dose of a healthy SMA gene extends the lives of infants with SMA beyond what was previously believed possible. Two of 15 treated infants have even learned to walk.

Although not directly involved, I have watched with great interest as this research played out over many years. What began as parallel, unrelated research efforts converged over time into a remarkable discovery engine with a laser-like focus on an SMA treatment.

The story began more than two decades ago with foundational research on SMA at Ohio State University. Separately, in the early 1990s, scientists at Nationwide Children’s were studying unique adeno-associated viral (AAV) vectors — Trojan horses if you will — capable of carrying corrective gene payloads.

Thirteen years ago, a talented Ph.D. neuroscientist, Dr. Brian Kaspar, was recruited from southern California to join the Center for Gene Therapy. Early on, he found that a specific serotype of AAV — AAV9 — given by vein is exuberantly taken into the same spinal cord cells that are defective in SMA.

At the same time, prominent neurologist Dr. Jerry Mendell relocated from the main Ohio State campus to Nationwide Children’s to focus on developing gene therapies for children with neuromuscular disease. He convinced hospital leaders to construct a specialized facility to manufacture AAV for human use. Text full:http://www.dispatch.com/news/20171105/pediatric-research-teamwork-fuels-breakthrough-in-fight-against-fatal-genetic-disorder

News about GENE THERAPY

WASHINGTON — A first attempt at gene therapy for a disease that leaves babies unable to move, swallow and, eventually, breathe has extended the tots’ lives, and some began to roll over, sit and stand on their own, researchers reported Wednesday.
Only 15 babies with spinal muscular atrophy received the experimental gene therapy, but researchers in Ohio credited the preliminary and promising results to replacing the infants’ defective gene early — in the first few months of life, before the neuromuscular disease destroyed too many key nerve cells.
“They all should have died by now,” said Dr. Jerry Mendell of Nationwide Children’s Hospital, who led the work published by The New England Journal of Medicine. Yet, “those babies are still improving.”
Mendell cautioned that much more study is needed to prove the gene therapy works and is safe. Nor is it clear whether the replacement gene’s effects would wane over time.

Spinal muscular atrophy occurs in about 1 in 10,000 births, and those with the most severe form, called SMA Type 1, rarely reach their second birthday. They can be born looking healthy but rapidly decline. One study found just 8 percent of the most severely affected survived to age 20 months without needing permanent mechanical ventilation to breathe.

There is no cure. The first treatment wasn’t approved until last December — a drug named Spinraza that requires spinal injections every few months.
The experimental gene therapy approach aims for a one-time fix.

WHAT GOES WRONG

Spinal muscular atrophy is caused when a mutated gene can’t produce a protein crucial for survival of motor neurons, nerve cells in the spinal cord that control muscles.
Some children carry extra copies of a backup gene that produces small amounts of the vital protein, and thus have much milder forms of the disease.

GENE REPLACEMENT

Scientists loaded a healthy version of the gene into a virus modified so it couldn’t cause illness. Then 15 babies got a one-time intravenous injection. The virus carried the healthy gene into motor neurons, where it got to work producing the protein those nerve cells require to live.

Three babies received a low dose of the gene therapy, as a first-step safety precaution. The remaining 12 got a high dose.

RESULTS

All of the children are alive, Mendell said, about two years and counting after treatment. All beat the odds of needing permanent machine help to breathe by age 20 months.

But only the high-dose recipients saw better motor control, reaching some developmental milestones usually unthinkable for these patients. Eleven could sit unassisted at least briefly; nine could roll over. Eleven are speaking and able to swallow. Two were able to crawl, stand and then walk, Mendell’s team reported.

Full text:https://www.washingtonpost.com/national/health-science/baby-gene-therapy-study-offers-hope-for-fatal-muscle-disease/2017/11/01/cdd22306-bf42-11e7-9294-705f80164f6e_story.html?utm_term=.6bd2619e4116

Today Halloween

Today Halloween.
I congratulate all with Halloween.

Phase 2 clinical trial Roche in Europe

A Phase 2 clinical trial evaluating the efficacy and safety of RG7916 in children and adults with type 2 or 3 spinal muscular atrophy (SMA) has advanced into a second and possibly pivotal phase. The study is part of a development program jointly led by PTC Therapeutics, Roche and the SMA Foundation.

The SUNFISH trial (NCT02908685) consists of two parts: an exploratory dose-finding initial part that ran for 12 weeks and a confirmatory part that will run for 24 months. This second part is randomized, double-blinded and placebo-controlled. Approximately 168 type 2 and 3 SMA patients, ages 2 to 25, are expected to enroll at sites in four European countries. When SUNFISH concludes in about two years, patients may continue in an open-label extension of this study.

An interim analysis from its first part demonstrated an exposure-dependent increase in the survival motor neuron (SMN) protein, which is deficient in these patients. RG7916 continues to be well-tolerated at all doses and no drug-related safety findings led to any patients withdrawing from part one.

RG7916 is an oral survival motor neuron 2 (SMN2) splicing modifier. Because SMA is caused by a defect in the SMN1 gene, the SMN2 gene has been explored as a potential replacement to guarantee the production of the SMN protein.

Messenger RNA (mRNA) is the molecule that guides protein formation. Pre-mRNA is a less developed version of mRNA. In order for pre-mRNA to become mRNA, the genetic material in pre-mRNA must be edited through a process called “splicing,” where some sections are removed.

To say that RG7916 is a splicing modifier means that it directly targets the underlying molecular deficiency of SMA by modulating SMN2 splicing to increase expression of full-length SMN2 mRNA from the SMN2 gene.

“We are excited to move RG7916 into the pivotal part of the SUNFISH trial,” Stuart W. Peltz, PhD, chief executive officer of PTC Therapeutics, said in a press release. “RG7916 resulted in a substantial increase in SMN2 protein production in SMA patients. We believe that a major advantage of RG7916 is that it is an oral drug that distributes throughout the body. This is important because the SMN protein is critical both in the CNS and peripheral tissues.”

RG7916 is also being investigated in babies with type 1 or infant-onset SMA in a Phase 2 trial called FIREFISH (NCT02913482). This study, running at sites in the U.S. and Europe, is currently recruiting infants ages 1 to 7 months old.

PTC Therapeutics and the SMA Foundation initially began working on this potential therapy in 2006, and Roche began to participate in 2011, when it acquired an exclusive worldwide license to this splicing program. The U.S. Food and Drug Administration (FDA) designated RG7916 an orphan drug for the treatment of SMA in January 2017.

Initiation of the second part of SUNFISH triggered a $20 million milestone payment to PTC from Roche.

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Today Mother Day

Today Mother Day. I congratulation all mother in the world and first time my mother.