Sentences with phrase «sma type»

Hammersmith Functional Motor Scale (HFMS) a test battery developed by Main and colleagues, used to evaluate motor function and specifically developed for SMA Type 2 and 3 patients.

SMA Type 1 Update On December 5, 2017, the company had an end - of - Phase 1 meeting with FDA with respect to AVXS - 101 for SMA Type 1.

According to the well - characterized natural history of the disease by the Pediatric Neuromuscular Clinical Research Network, 100 percent of children with SMA Type 2 will never walk without support, 95 percent of children will never stand without assistance and more than 30 percent will die by 25 years of age.

«Our goal has been to expand the study of gene therapy beyond Type 1 infants to address the urgent medical needs of children with SMA Type 2, and we look forward to understanding the potential clinical impact of AVXS - 101 in these patients who, left untreated, will never walk on their own and most will never stand without assistance.»

«We are quite pleased to initiate our first trial of AVXS - 101 in patients with SMA Type 2,» said Sean Nolan, President and Chief Executive Officer of AveXis.

SMA Type 1 is the leading genetic cause of infant mortality.

U.S. Phase 1 Trial in SMA Type 2 (STRONG) The open - label, dose - comparison, multi-center Phase 1 trial — known as STRONG — is designed to evaluate the safety, optimal dosing, and proof of concept for efficacy of AVXS - 101 in two distinct age groups of patients with SMA Type 2, utilizing a one - time IT route of administration.

About AVXS - 101 AVXS - 101 is a proprietary gene therapy candidate of a one ‐ time treatment for SMA Type 1 and is the only clinical ‐ stage gene therapy in development for SMA.

«This Phase 1 trial in children with SMA Type 2 will allow us to evaluate safety, optimal dosing and proof - of - concept for efficacy of AVXS - 101 compared to the well - characterized natural history using the one - time intrathecal route of administration,» said Dr. Sukumar Nagendran, Chief Medical Officer of AveXis.

The Columbia University SMA Clinical Research Center is conducting an 18 month trial of the effects of cardiovascular and strengthening exercise on individuals with SMA Type III.

Then Spinraza was administered for the most severe form of spinal muscular atrophy, SMA type 1, which afflicts children before they are six months old.

This time the study concerned SMA type 2, in which the illness occurs when children have learned to sit by themselves but have not yet begun to walk.

«Encouraging data for gene replacement therapy for SMA type I, phase 1 study shows.»

With other SMA types patients can live much longer, but they still suffer significant muscle weakness.

Not exact matches

The most common type of the disease is SMA - 1, which is diagnosed in babies between birth and 6 months old.

The coils are made from a shape - memory alloy (SMA)-- a type of material that «remembers» an engineered shape and, when bent or deformed, can spring back to this shape when heated.

«We are committed to quickly developing this drug and are finalizing what we believe will be a rapid development path for this drug in all types of SMA.

In the interim analysis of this ongoing multiple - dose Phase 1b / 2a study, children with Type II or Type III SMA were dosed intrathecally with 3 mg, 6 mg or 9 mg of ISIS - SMNRx.

Current development - stage programs include antisense drugs to treat SMA, ISIS - SMNRx, and myotonic dystrophy type 1, ISIS - DMPKRx.

Dr. De Vivo noted that babies born with the most severe form of SMA, type 1, are at risk of death before the age of two without ventilatory support.

Children with Type II and Type III have greater amounts of SMN protein and less severe, but still life - altering forms of SMA.

Isis is developing ISIS - SMNRx as a potential treatment for all Types of SMA.

Infants with Type 1 SMA, the most severe life - threatening form, produce very little SMN protein and have shortened life expectancy.

ISIS - SMNRx is also being evaluated in an open - label, multiple - dose, dose - escalation Phase 2 study in infants with Type I SMA.

ISIS - SMNRx is designed to treat all types of childhood SMA by altering the splicing of a closely related gene (SMN2) that leads to the increased production of fully functional SMN protein.

CARLSBAD, Calif., June 11, 2015 — Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) today provided an update on its ongoing open - label Phase 2 clinical study of ISIS - SMNRx in infants with Type I spinal muscular atrophy (SMA).

The second study, FIREFISH, is aimed to assess safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy in infants with Type I SMA.

Once we evaluate ISIS - SMNRx as a single - dose in children with SMA, we will move to multiple - doses in our Phase 1 studies and eventually evaluate the drug in Phase 2 studies in children with SMA, including infants with Type I SMA.»

Part 2 is a double - blinded, placebo - controlled, randomized confirmatory study in approximately 150 non-ambulant Type II and Type III SMA patients for 24 months.

The primary objective of this study was to examine the safety and tolerability of SPINRAZA in patients with Type 2 or Type 3 SMA.

In a natural history cohort of later - onset (Type 2 and Type 3) SMA, mean change was -0.5 points over 24 months (730 days) and -1.7 points over 36 months (1095 days).3

Milestones such as head control, rolling, and sitting, are rarely, if ever, achieved in untreated patients in the natural history of Type 1 SMA.3

Functional interaction between FUS and SMN underlies SMA - like splicing changes in wild - type hFUS mice.

Researchers had assumed that the SMA gene, essential for the survival of motor neurons, affected only that particular type of neuron.

The most severe form of SMA is Type 1, a lethal genetic disorder characterized by motor neuron loss and associated muscle deterioration, which results in mortality or the need for permanent ventilation support before the age of two for greater than 90 percent of patients.

Researchers who are interested in studying SMA can request two types of data from the Registry, de-identified information and identifiable information.

One or two copies usually results in type 1 SMA, the most common and deadly form of the disease.

The most severe form of SMA is Type 1, which accounts for approximately 60 percent of cases at birth, results in an inability to sit without support, difficulty in breathing and swallowing.

Chicago, Ill., July 20, 2016 — AveXis, Inc., a clinical - stage gene therapy company developing treatments for patients suffering from rare and life - threatening neurological genetic diseases, today announced the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation for AVXS - 101, the company's lead development candidate for the treatment of spinal muscular atrophy (SMA) Type 1 in pediatric patients.

Isis is currently in collaboration with Biogen Idec (NASDAQ: BIIB) to develop and potentially commercialize the investigational compound ISIS - SMNRx to treat all types of SMA.

People with type 2 or type 3 SMA typically have at least three copies of SMN2, and, despite physical and respiratory disabilities, these individuals can live into early adulthood and beyond.

RG7916 is currently under investigation in two clinical studies: SUNFISH, a trial in childhood onset (Type II / III) SMA patients, and FIREFISH, a trial in infant onset (Type I) patients.

Last spring Dinakar and Loren decided to conduct an investment - banker - type road show to drum up interest among small drug companies, complete with PowerPoint slides estimating potential annual sales for an SMA drug ($ 250 million to $ 750 million) and possible spinoff applications for other diseases.

But for people with type 2 or type 3 SMA, «the reality is that any sort of treatment would be a blessing,» says Jill Jarecki, research director of Families of SMA who, in a previous job, led the small - molecule screening effort that yielded RG3039, the Repligen compound.

Part two is an open - label, single - arm study in approximately 40 infants with Type I SMA for 24 months, followed by an open - label extension.

• SRK - 015 substantially increases lean body mass in non-human primates, with a particularly notable effect on muscles with a high proportion of fast - twitch fibers, a muscle fiber type that is particularly affected in SMA.

This is the first effort to systematically identify opportunities for score inflation, to explore variations in validity across parts of tests and across types of students and schools, and to implement and evaluate SMAs.

* EMA stands for «Exponential Moving Average», the second most popular type of moving averages after the Simple Moving Average (SMA), except for the fact that more importance is given to the latest data.