CLINICAL TRIAL FOR PEOPLE WITH SMA - CONTACTS

ISIS

Contact: Isis Pharmaceuticals, Inc. 1-800-679-4747 patients@isisph.com


Locations
United States, California Stanford University Medical Center Recruiting Stanford, California, United States, 94305 Contact: Shirley Paulose, MBBS, MS 650-724-3792 spaulose@stanford.edu Principal Investigator: John Day, MD

United States, Florida Nemours Children's Hospital Recruiting Orlando, Florida, United States, 32827 Contact: Dawn Cook, RN,MSN,CCRC 407-650-7156 dcook@nemours.org Principal Investigator: Richard Finkel, MD

United States, New York Columbia University Medical Center Recruiting New York, New York, United States, 10032 Contact: Rosangel Cruz, MA, BS 212-305-1336 rc2836@columbia.edu Contact: Jonathan Marra, MA 212-305-2461 jdm2132@columbia.edu Principal Investigator: Claudia Chiriboga, MD Canada, Ontario

The Hospital for Sick Children (SickKids) Recruiting Toronto, Ontario, Canada, M5G 1X8 Contact: Lynn MacMillan, RN
416-813-7355 lynn.macmillan@sickkids.ca Principal Investigator: Jiri Vajsar, MD

Other Sites...
United States, Massachusetts Boston Children's Hospital Boston, Massachusetts, United States, 02115

United States, New York Columbia University Medical Center New York, New York, United States, 10032

United States, Texas UT Southwestern Medical Center - Children's Medical Center Dallas Dallas, Texas, United States, 75207

United States, Utah University of Utah School of Medicine Salt Lake City, Utah, United States, 84132



GENE THERAPY


Jerry R. Mendell, MD
Neurology

Neurology
700 Children's Dr
Columbus, OH 43205
(614) 722.2715


Brian K. Kaspar, Ph.D.

The Research Institute at Nationwide Children's Hospital
700 Childrens Drive
Columbus, OH 43205
(614) 722-2700


Information from "SMA Support System" - https://www.facebook.com/groups/SMASupportSystem/files/

https://www.facebook.com/notes/sma-support-system/locate-a-doctor-or-clinical-trial-center/526919677400146

Global Genes

Global Genes™ is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. What began as a grassroots movement in 2009 , with just a few rare disease parent advocates and foundations , has since grown to over 500 global organizations.

Our Mission
To Eliminate the Challenges of Rare Disease.

We build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.

RARE is Everywhere


Rare diseases affect 1 in 10 Americans, 30 million people in the United States, and 350 million people globally. Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.

Unity Creates Hope™
hope-its-in-our-genesWhile individual rare diseases have small patient populations, collectively the rare disease community is larger than the AIDS and Cancer communities combined. Despite its size, the community lacks a unified voice, as only 15% of rare diseases have organizations or foundations providing support or driving research.

It is estimated that 95% of all rare diseases do not have a single FDA approved drug treatment, and there are currently less than 400 treatments approved by the FDA for the nearly 7000 rare diseases which have been identified. According to estimates from the NIH, it will take 10,000 years at the current rate of FDA drug approvals to find therapies for all people suffering from rare diseases.

Support the Global Genes™ movement today by getting involved.
Full text: https://globalgenes.org/who-we-are-2/

New Data Released of Gene Therapy for SMA

Wow! Something amazing!

New Data Released

In January 2016, AveXis reported interim data through the December 31, 2015 time period from the ongoing Phase 1 trial of AVXS-101 in SMA Type 1. The data reported in this release reflects that same dataset and time period. AveXis reported that AVXS-101 appears to have a favorable safety profile and appears to be generally well tolerated in patients studied as of December 31, 2015. As of that date, there had been a total of 10 serious adverse events (SAEs) reported; two of these were determined to be related to therapy and involved clinically asymptomatic, elevated liver function enzymes. Both cases have resolved.

As of December 31, 2015, no patient in either dosing cohort had experienced an “event.” An event is defined as death, or until a patient requires at least 16 hours per day of ventilation support for breathing for 14 consecutive days in the absence of an acute reversible illness, or perioperatively. The median event-free age of all 15 patients was 11.8 months, with the oldest patient at 25.8 months of age. In Cohort 1, all 3 patients were over 20 months of age and event-free. In Cohort 2, the first 6 patients to be treated were greater than 10.5 months of age and event-free.

As of December 31, 2015, mean increases of 6.0 points and 18.0 points in CHOP-INTEND scores were observed in Cohort 1 and Cohort 2, respectively. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) is a test developed to measure motor skills of patients with SMA Type 1, and other motor milestone development surveys and tests.

Upcoming Clinical Trials

Enrollment for this Phase 1 trial has recently been completed. AveXis plans to initiate Phase 2 trial of systemic delivery in the first half of 2017. AveXis has also announced plans for a Phase 1 trial testing a second approach, CSF delivery, in individuals with SMA type II. This trial is scheduled to begin in the second half of 2016.

Full text: http://www.curesma.org/news/avexis-new-data-phase-1.html?referrer=https://www.facebook.com/

My name is Monika Lemeshonok, I was born on January 27. 1986 in Belarus, city Mogilev.

I was born healthy child and like all the children started walking at the age of 1 year, I could stand near the crib and walk when I was hold the hand, I was very active child. But a few months, my mother began to notice how my legs began to weaken when I rested in a chair. My family showed me to a neurologist in the Minsk hospital. At the age of 1.5 years I was diagnosed with SMA type 2 (Spinal Muscular Atrophy), which was later confirmed by genetic DNA analysis. It is a terrible disease affects nerve cells in the upper part of the spinal cord that results in atrophy of the leg muscles and back and then to the loss of movement completely, the person ceases to walk and move. But despite my disease and physical difficulties from him since childhood, my mother told me that you need to believe in miracles, live and enjoy life. And I've always believed that in one day will happen miracle and I will cure and be able to walk. I have always admired the world and from an early age loved to draw. At first I was drawing pencils and pens cartoons heroes and then I liked to draw and paint, I painted all around. I started with the teachers of painting in art school.

From a childhood, I gave my personal art exhibitions of paintings in many cities in my country and abroad, my mother helped me in this. Many professionals and art lovers appreciate the artwork on my art exhibition; my art works are in private collections in Europe, Asia and America. On one of my exhibitions gave to me contact of famous professor and neurologist from Moscow Leonora Grinio, who was engaged in Embryonic transplant of Fetal Tissue for people with neuromuscular diseases. The first time I got to her for treatment in 1999 at age 13, where I was made embryonic transplantation of fetal tissue using an injection under the skin. Treatment by Professor L.Grinio was a real miracle for me - I realized that I have a great chance on the way to a dream to be healthy.