Started SMA charity marathon

I congratulate everyone on Happy Halloween! Yesterday you helped me and you bought 2 of my pictures. Thank you for that!
But our SMA charity marathon continues.
Buy 10 my pictures every day for a month and you will help me for my treatment. Click and buy right now:https://promote.shutterstock.com/widget/6c0d04d5-5e6d-4622-9f54-de29d886538f/share?fbclid=IwAR0yNpkCGkMl7P-R5Bo-9KRgV-dGXHpg62y_fy4xS1u_cj0C7fV1OuhrjBU

Very GOOD NEWS about gene therapy Avexis

Patient enrollment is complete for AveXis Phase 1 clinical trial testing its gene therapy candidate AVXS-101 in patients with spinal muscular atrophy (SMA) type 2.

“We are pleased that STRONG is now fully-enrolled and expect to report data from this study by May 2019,” David Lennon, PhD, the company’s president, said in an email reply to SMA News Today.

The trial, named STRONG (NCT03381729), will test the safety and tolerability of single-dose intrathecal injection (into the spinal canal) of 27 patients up to 60 months (5 years) of age who are able to sit but not stand or walk.

Evaluation of the higher dose (1.2 X 10^14 vg) will depend on the safety of the lower dose (6.0 X 10^13 vg), each initially tested in three patients. Patients will be divided into two groups: those younger or older than two years at time of dosing. Effectiveness will be evaluated after 12 months of follow-up.

AVXS-101 is designed to deliver a functional copy of the SMN1 gene to cells that control muscle contractions, called motor neurons. SMN1 is defective in SMA patients, leading to lower levels of a working SMN protein, and subsequently to loss of motor neurons, progressive muscle weakness, and atrophy (shrinkage).

All patients in the STRONG trial have SMN1 gene’s exon 7 deleted in both copies, or alleles. Exons are the bits of DNA with information to generate proteins. These patients also have three copies of the SMN2 gene, which produces an unstable and shorter version of the SMN protein.

AVXS-101 is now under review for approval inthe U.S. and Europe for intravenous (IV) delivery in infants up to 9 months of age who have SMA type 1. A pre-application review period also was started in Japan. Final decisions on whether to approve AVXS-101 are expected in mid-2019.

Recently acquired by Novartis, AveXis has been working to ensure adequate supply of AVXS-101 to patients in case it is approved by the U.S. Food and Drug Administration (FDA), Lennon said.

The recent filings were based mainly on the open-label, dose-escalation Phase 1 START trial (NCT02122952), testing the safety, tolerability and effectiveness of two IV-delivered doses of AVXS-101 in 15 babies with SMA type 1, the most severe and common type of the disease.

“Compared to natural history, AVXS-101 delivered rapid improvement in motor milestone achievements, a dramatic survival benefit, and a durable effect going out four years in SMA type 1 patients,” Lennon said.

Early results of the ongoing Phase 3 STR1VE trial (NCT03306277) in type 1 children younger than 6 months showed improvements in movement ability, as well as no need for respiratory or nutritional support.

Although not part of the current applications for approval, older children with SMA type 2, such as those in STRONG, as well as those with SMA type 3, may be the subject of future filings. “Based on clinical results to date for AVXS-101 in SMA type 1, we expect AVXS-101 delivered via IT [intrathecal] administration to also show a positive benefit in [other] SMA subtypes,” Lennon said.

Besides providing information on the potential benefits of AVXS-101 in SMA type 2, STRONG also will help define the next steps of AveXis’ program. “Because it is our first study of the IT formulation of AVXS-101, data from STRONG will also help determine the final design for our planned study in children up to 18 years of age with SMA types 1, 2 and 3,” Lennon said.

This trial, called REACH, is set to begin in 2019 and will include patients ineligible for the company’s other studies.

Overall, this illustrates the company’s aim to expand the indications treated by AVXS-101. In a February interview with SMA News Today, Suku Nagendran, then AveXis chief medical officer, mentioned how Spinraza (nusinersen, by Biogen) progressed over time as a suggestion of what may lie ahead for AVXS-101.

I need your help!

Dear, friends!
I must tell you the sad news! 😥
Unfortunately I could not collect the necessary amount for a charity account for my trip to the clinic in Bologna. Therefore, my trip is canceled this year. I'm very upset and frustrated from this event because my health is deteriorating and it's difficult for me to breathe periodically. But I have to reschedule my trip for May 2019. I say "Thank you very much!" to those who have already sent part of the charitable funds for my treatment!

NOW I again continue collecting charitable donations for my treatment. This amount includes treatment and procedures at the Nigrisoli clinic, the cost of air tickets (for 3 people, I, my mother and grandmother), the cost of my orthopedic corset and orthopedic pillows-holders for the back for my stroller. The total cost of all this is 2000 euros.
I ask you to help me all of you to make a charitable donation or make a repost!
My charity account: PayPal: Lemeshonok@gmail.com

Memory Days of SMA

Today is the Memory Days of remembe of people who passed away from this world from the terrible diagnosis SMA. I remember all of you, my friends.

The shock news! Roche ends development of olesoxime

It was announced today that Roche has taken the difficult decision of ending the development of neuro-protective compound Olesoxime.

In 2016 Roche started the OLEOS study, an open label extension study evaluating the long term safety and effectiveness of olesoxime. Many discussions with Health Authorities (FDA and EMA) and SMA experts were had and the company worked hard to improve the dose and formulation of olesoxime and to design the best Phase 3 study possible to be able to show the efficacy of olesoxime.

Furthermore, they regularly analysed the data from this study. Whilst the data at 12 months of treatment with olesoxime were initially encouraging, the most recent analysis at 18 months, which was presented at the American Academy of Neurology in April 2018, actually showed a worsening in motor function.

Unfortunately, despite all of their efforts and a strong desire to deliver olesoxime as a medicine to people with SMA, Roche has concluded that this is not going to be possible. Based on all of the available evidence and the continued difficulties described above, the company has decided to stop further development of olesoxime.

Many of you will be very disappointed by this news, as we are too. Their immediate priority now is to ensure that those still taking part in the ongoing OLEOS study understand what this decision means for them and that they are provided with appropriate treatment options. Roche is working closely with study sites and investigators to help identify options for those still taking part in the OLEOS study and will share more details about this in the coming weeks. The OLEOS study will be kept open until all ongoing participants have an alternative treatment option confirmed.

text from: http://www.sma-europe.eu/news/roche-ends-development-of-olesoxime/

AveXis provides community update on plans for AVXS-101 in Europe

AveXis has provided SMA Europe with a community update on plans for AVXS-101 in Europe. AVXS-101 is a gene therapy product for SMA.

STR1VE EU

OVERVIEW: STR1VE EU is expected to start enrolling patients in the first half of 2018 in patients with SMA Type 1, studied at multiple centres across the European Union.

ADMINISTRATION: In STR1VE EU, AVXS-101 is administered through a one-time IV infusion.

WHO: STR1VE EU will enroll approximately 30 patients with SMA Type 1 who are less than six months of age at the time of gene therapy.

SPRINT

OVERVIEW: SPRINT is expected to start enrolling patients in the first half of 2018 in presymptomatic patients with SMA Types 1, 2 and 3.

ADMINISTRATION: In SPRINT, AVXS-101 is administered through a one-time IV infusion.

WHO: SPRINT is expected to enroll approximately 44 patients with two, three and four copies of SMN2 who are less than six weeks of age and pre-symptomatic at the time of gene therapy.

REACH

OVERVIEW: REACH is expected to start enrolling patients late in 2018 or early in 2019 in
patients with SMA Types 1, 2 and 3.

ADMINISTRATION: In REACH, AVXS-101 is administered through a one-time IT injection. Data from STRONG (the first study of AVXS-101 delivered through IT injection) will help determine the final study design.

WHO: REACH is expected to enroll approximately 50 patients with SMA Types 1, 2 and 3 who are between approximately six months and 18 years of age.


Text from: http://www.sma-europe.eu/news/avexis-provides-community-update-on-plans-for-avxs-101-in-europe/

FDA Grants Orphan Drug Status to SRK-015 for SMA

SRK-015 has received orphan drug status designation by the U.S. Food and Drug Administration (FDA) to treat muscle atrophy in patients with spinal muscular atrophy (SMA).

SRK-105 is Scholar Rock’s lead product candidate, intended to improve muscle strength and motor function in SMA patients. The potential therapy selectively inhibits the activation of myostatin, a protein mainly produced in skeletal muscle cells that suppresses muscle growth.

Absence of the MSTN gene, which codes for myostatin, is associated with increased muscle mass and strength in animal models. Based on preclinical evidence from animal models, scientists at Scholar Rock believe that inhibiting the activation of myostatin will promote a similar, clinically meaningful effect.

Mice studies showed that SRK-105 can prevent additional atrophy in animals with muscle wasting and can improve muscle mass and function. Promising findings were also reported in studies with primates, where the investigational compound was able to increase animals’ lean body mass, particularly in a type of muscle fiber affected by SMA.

These preclinical studies support the company’s decision to advance into clinical testing in SMA patients.

According to Scholar Rock, SRK-105 may become the first muscle-targeting treatment to reverse or prevent muscle atrophy in patients with SMA. It could be used both as a stand-alone therapy and as a combination treatment with the current standard of care.

“We are very pleased that the FDA granted Orphan Drug Designation to SRK-015 for the treatment of patients suffering from SMA, and we appreciate that the agency’s decision came much earlier than anticipated,” Nagesh Mahanthappa, PhD, President and CEO of Scholar Rock, said in a press release.
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“This designation is an important milestone in the development of our lead product candidate along the path towards a first-in-human Phase 1 clinical trial in the second quarter of 2018,” Mahanthappa added.

Orphan drugs are intended for the treatment, diagnosis or prevention of rare diseases affecting fewer than 200,000 people in the United States. The designation also can be granted for diseases affecting more than 200,000 people if there is no reasonable expectation that the company will be able to recover the costs of drug development and marketing.

The designation is granted if there is a medically plausible basis for using the treatment candidate. Orphan drug status provides incentives for product development, including tax credits for clinical trials, exemption from a prescription drug user fee, and access to protocol assistance from the FDA.

Companies may also benefit from seven years of market exclusivity if the drug is ultimately approved.

Text from:https://smanewstoday.com/2018/04/06/promising-sma-therapy-srk-015-gains-orphan-drug-status-from-fda/?amp