I am awaiting response from doctor

Now I am awaiting response from doctor from Bologna to schedule date of my treatment at the clinic Nigrisoli. Maybe very soon I will know when I will go there again.

I very much ask you do not forget about me. I really need your donations, because so far I do not have means for buy tickets to Bologna.

My charity account:
PayPal: Lemeshonok@gmail.com
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Information from:https://www.facebook.com/groups/1183688658388473/

Trial of SMA Therapy RG7800 on Hold, but Roche, Partners Developing Another Compound September 20, 2016 Charles Mooreby Charles Moore In News.

International pharmaceutical company Roche, with its SMA drug development collaboration partners PTC Therapeutics and the SMA Foundation, said a clinical study called Moonfish (NCT02240355) that was investigating a compound and investigational medicine known as RG7800 for people with spinal muscular atrophy (SMA) was placed on clinical hold in April 2015 after an unexpected eye finding in an animal study

Roche, PTC, and the SMA Foundation announced the hold in an update on the clinical development program of SMN2 splicing modifier drug development program for treating SMA.

However, the partners are developing another SMN2 splicing modifier compound called RG7916 that is still in early clinical stages.

Roche said that concentrations of RG7800 being tested in the animal study were higher than those received by any of the Moonfish study’s human participants, and the company says it can can confirm that no safety issues have been identified in any person who received RG7800 through their participation in the Moonfish study.

RG7800 is an investigational oral drug for the treatment of SMA, a genetic disorder caused by the mutation or deletion of the survival of motor neuron gene 1 (SMN1).

curesmalogoRoche and its partners believe RG7800 may have potential to target SMA’s underlying cause by increasing SMN protein levels in the nervous system, muscles, and other tissues through modifying SMN2 gene splicing to stimulate greater production of full-length SMN mRNA.

The SMN2 splicing modifier drug development program was originally launched by PTC Therapeutics in partnership with the SMA Foundation. The program was designed to utilize PTC’s Alternative Splicing technology platform to identify and develop new small-molecule therapeutics in treating and prevention of SMA.

In November 2011, Roche gained an exclusive license to the program, with clinical development of RG7800 being led by Roche with oversight provided by a steering committee with members representing Roche, PTC, and the SMA Foundation.

However, with further clinical development of RG7800 still on hold, in January 2016 the collaborators began a Phase 1 clinical trial in the Netherlands of another SMN2 splicing modifier compound called RG7916.

Based on information from that study, the partners hope to begin clinical trials of RG7916 in people with SMA Type 1 and SMA Type 2/3 by the end of this year. Clinical trial sites, enrollment information, and study timelines will be announced once regulatory feedback has been obtained in countries where the proposed trials will be conducted.

Moonfish study participants will be offered the opportunity to enroll in an open label study with RG7916 provided they meet study criteria. These patients will be contacted by their clinical trial administrator to update them on the new developments.

For more information about updates on the RG7800 and RG7916 studies, visit https://www.clinicaltrialsregister.eu or https://clinicaltrials.gov

or contact the , Information Support Line at 888-662-6728.

The partners say details of the upcoming RG7916 studies will be posted on these websites soon. They note that public participation in clinical trials is critical to the process of advancing scientific understanding of SMA.

According to the research and support organization CureSMA, the disease affects approximately 1 in 10,000 babies, and is the No. 1 genetic cause of death in infants, with about 1 in every 50 Americans a genetic carrier. There is currently no cure for SMA, with treatment consisting of managing the symptoms and preventing complications.

From:http://smanewstoday.com/2016/09/20/sma-drug-rg7800-clinical-trial-on-hold-partners-developing-rg7916

SMN Protein Can Be Measured in Blood – Implications for Clinical Trials

The majority of therapeutic approaches currently in clinical development for SMA, aim to increase the levels of the SMN protein, either through the back-up gene, SMN2, or through the replacement of the missing gene, SMN1. There is therefore a need for sensitive methods to quantify increases in SMN protein in blood and other accessible tissues.

Phillip Zaworski of PharmOptima LLC and Katharine von Herrmann of the SMA Foundation, along with their team, have found a new method, an assay, to detect levels of SMN protein in the blood. Using the assay, they measured SMN protein in whole blood from SMA patients and healthy controls and found that SMN protein levels were associated with SMN2 copy number and were greater in SMA patients with 4 copies, relative to those with 2 and 3 copies. SMN protein levels did not vary significantly in healthy individuals over a four-week period and were not affected by circadian rhythms. Almost half of the SMN protein was found in platelets, components of the blood involved with clotting and healing. The team also showed that SMN protein levels in mice with a mild form of SMA, were high in the neonatal stage, decreased in the first few weeks after birth and then remained stable throughout the adult stage. Importantly, SMN protein levels in the CNS correlated with SMN levels measured in whole blood of these mice. These findings have implications for the measurement of SMN protein induction in whole blood in response to SMN-upregulating therapy.

http://www.smatrust.org/smn-protein-in-blood-can-be-measured-implications-for-clinical-trials/