Monday 23 July 2012

John Miller speaks to the Sunday Post about DMD and his hopes for the recent steps forward in research - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

John Miller speaks to the Sunday Post about DMD and his hopes for the recent steps forward in research - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: Parents aren’t meant to outlive their children. So we can’t imagine what it must be like for a grandparent having to contemplate living longer than their grandchild. But that’s exactly the position in which Edinburgh’s John Miller finds himself. John’s grandson Lee, 14, has Duchenne Muscular Dystrophy.

Friday 13 July 2012

Resveratrol decreases inflammation and increases utrophin gene expression in the mdx mouse model of duchenne muscular dystrophy

Resveratrol decreases inflammation and increases utrophin gene expression in the mdx mouse model of duchenne muscular dystrophy: Duchenne muscular dystrophy (DMD) is a lethal genetic disease with no cure. Reducing inflammation or increasing utrophin expression can alleviate DMD pathology. Resveratrol can reduce inflammation and activate the utrophin promoter. The aims of this study were to identify an active dose of resveratrol in mdx mice and examine if this dose decreased inflammation and increased utrophin expression.

Thursday 12 July 2012

Ataluren Update - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

Ataluren Update - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: The pivotal Phase 2b trial of ataluren, an investigational new drug being studied in nonsense mutation Duchenne/Becker muscular dystrophy (DBMD), was completed in late 2009. It had enrolled 174 patients at 37 trial sites in 11 countries on four continents. As PTC and statistics experts have analyzed the complex data from this trial using various statistical methods, the company has come to understand that the results are very promising.

Wednesday 11 July 2012

Action Alert! Contact your Senators to help save vital Duchenne programs at the CDC - PPMD Community

Action Alert! Contact your Senators to help save vital Duchenne programs at the CDC - PPMD Community: Take Action: Contact your Senators
In May we asked everyone to reach out to their member in the House of Representatives on this issue.
Now it's time to contact your two Senators!�Deadline: Friday, July 13




PPMD, along with other stakeholders in the disability community, are urging our advocates to contact their Congressional representatives to ask that they sign on to a Dear Colleague letter being circulated bySenator Roger Wicker (R-MS) and Senator Frank Lautenberg (D-NJ) that expresses concern to CDC Director Tom Frieden about the proposed consolidation of the NCBDDD.

Thanks in part to advocacy efforts by the disability community last year, the proposed consolidation was stopped.� We are asking for your support this year to achieve a similar result.

Action Alert! Contact your Senators to help save vital Duchenne programs at the CDC - PPMD Community

Action Alert! Contact your Senators to help save vital Duchenne programs at the CDC - PPMD Community: We need your voice to help save critical Duchenne related programs at the Center for Disease Control (CDC)!

Deadline: Friday, July 13

The Administration's Fiscal Year 2013 budget request again proposes to consolidate muscular dystrophy and other programs within the CDC's National Center for Birth Defects and Developmental Disabilities (NCBDDD) and to eliminate the funding level for the center. The work of the NCBDDD is directly responsible for much of the progress made over the last decade to improve care of those with Duchenne. Specifically, the development and issuance of the Care Considerations have increased the life expectancy by approximately 10 years, a remarkable improvement.

Landmark FDA legislation becomes law - PPMD Community

Landmark FDA legislation becomes law - PPMD Community: Major win for the Duchenne community
PPMD applauds the President for signing into law the Prescription Drug User Fee Act also known as�The Food and Drug Administration Safety and Innovation Act.�Most recently, PPMD worked with the Everylife Foundation for Rare Diseases and Genetic Alliance to organize a letter to Congress�signed by nearly 120 patient advocacy organizations urging the inclusion of specific provisions within the final legislation. PPMD is grateful for the many actions advocates have taken to achieve this success. We also appreciate our board’s clear and compelling position on FDA engagement issues that produced a�board policy�and guided our advocacy efforts.

This is a major win for the Duchenne community as well as the rare disease community as a whole.

The legislation includes:
A provision from the Senate bill that would deepen patient engagement in the review of medical products.
Content from the House bill that would provide explicit direction to FDA in developing Fast Track and Accelerated Review guidance that recognizes the small patient populations.
A provision from the House bill that would incent industry to develop treatments for pediatric rare diseases by providing a voucher the sponsor could use to speed up FDA review of another candidate treatment.

Tuesday 10 July 2012

Read-through molecule improves muscle function in DMD

Read-through molecule improves muscle function in DMD: A compound that results in a read-through on nonsense mutations in messenger RNA (mRNA) restores dystrophin expression in an animal model of Duchenne muscular dystrophy (DMD), research shows.

Monday 9 July 2012

Novel gene therapy approach may treat dysferlinopathies

Novel gene therapy approach may treat dysferlinopathies: The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies.

Monday 2 July 2012

Action Duchenne announces �5million skipDuchenne research fund to focus on delivering a cure for Duchenne Muscular Dystrophy - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

Action Duchenne announces �5million skipDuchenne research fund to focus on delivering a cure for Duchenne Muscular Dystrophy - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: ACTION DUCHENNE ANNOUNCES �5MILLION SKIPDUCHENNE RESEARCH FUND TO FOCUS ON DELIVERING A CURE FOR DUCHENNE MUSCULAR DYSTROPHY

PTC Therapeutics initiates open-label study for Atlauren - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

PTC Therapeutics initiates open-label study for Atlauren - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: PTC Therapeutics, Inc. (PTC) today announced the initiation of an open-label study in the European Union, Israel, Australia and Canada for patients with nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) who received ataluren in a prior, PTC-sponsored clinical study. The primary objective of this study is to gain further information on the long-term safety and tolerability of ataluren, an investigational new drug. PTC launched a similar study in the United States in November 2010.

New compound could treat certain types of genetic disorders in muscles

New compound could treat certain types of genetic disorders in muscles: Scientists at UCLA have identified a new compound that could treat certain types of genetic disorders in muscles. It is a big first step in what they hope will lead to human clinical trials for Duchenne muscular dystrophy.

Duchenne muscular dystrophy, or DMD, is a degenerative muscle disease that affects boys almost exclusively. It involves the progressive degeneration of voluntary and cardiac muscles, severely limiting the life span of sufferers.

In a new study, senior author Carmen Bertoni, an assistant professor in the UCLA Department of Neurology, first author Refik Kayali, a postgraduate fellow in Bertoni's lab, and their colleagues demonstrate the efficacy of a new compound known as RTC13, which suppresses so-called "nonsense" mutations in a mouse model of DMD.