Free Genetic Testing for Lysosomal Storage Diseases Provided by Invitae, Axovant
source: pixabay.com

Free Genetic Testing for Lysosomal Storage Diseases Provided by Invitae, Axovant

  According to Batten Disease News, Invitae and Axovant Gene Therapies partnered up to offer free genetic testing in North America. This will focus on children who are thought to…

Continue Reading Free Genetic Testing for Lysosomal Storage Diseases Provided by Invitae, Axovant
April 15th is International Pompe Day: Spreading Pompe Disease Awareness
source: pixabay.com

April 15th is International Pompe Day: Spreading Pompe Disease Awareness

April 15th, 2020 will be the 7th annual International Pompe Day, a day of recognition and fostering awareness around Pompe disease organized by the International Pompe Association. Like many rare…

Continue Reading April 15th is International Pompe Day: Spreading Pompe Disease Awareness

Sanofi is Making Strides in Lysosomal Storage Disease Research

Sanofi There are an estimated 350 million rare disease patients across the world. Many conditions still don't have treatments. However, there are scientists dedicating their lives solely to this endeavor.…

Continue Reading Sanofi is Making Strides in Lysosomal Storage Disease Research
AskFirst: A New Collaborative Program to Support Rare Disease Patients in Gene Therapy Clinical Trials
source: pixabay.com

AskFirst: A New Collaborative Program to Support Rare Disease Patients in Gene Therapy Clinical Trials

AskBio Asklepios BioPharmaceuticals (AskBio) was first founded in 2001. It is based out of North Carolina.  This company is dedicated to the research of gene therapies as potential therapeutic options…

Continue Reading AskFirst: A New Collaborative Program to Support Rare Disease Patients in Gene Therapy Clinical Trials
The Muscular Dystrophy Association Steps up for Rare Neuromuscular Diseases
source: pixabay.com

The Muscular Dystrophy Association Steps up for Rare Neuromuscular Diseases

According to a story from Charcot-Marie-Tooth News, the Muscular Dystrophy Association (MDA) may at first seem like a group that is solely focused on helping muscular dystrophy patients, but its…

Continue Reading The Muscular Dystrophy Association Steps up for Rare Neuromuscular Diseases
Muscular Dystrophy Association’s Pompe Disease Patient Focused Drug Development Meeting Cleared by FDA
source: pixabay.com

Muscular Dystrophy Association’s Pompe Disease Patient Focused Drug Development Meeting Cleared by FDA

According to a story from tradeshownews.vporoom.com, the Muscular Dystrophy Association (MDA) has recently announced the official approval of its Patient-Focused Drug Development (PFDD) meeting by the US Food and Drug…

Continue Reading Muscular Dystrophy Association’s Pompe Disease Patient Focused Drug Development Meeting Cleared by FDA

First Patient to Receive Gene Therapy in a Phase 1/2 Study of ACTUS-101 in Patients with Pompe Disease

Actus Therapeutics, a privately held portfolio company of AskBio, has recently announced through PRWeb, the initiation of patient dosing in a clinical trial testing its investigational gene therapy ACTUS-101. About Pompe…

Continue Reading First Patient to Receive Gene Therapy in a Phase 1/2 Study of ACTUS-101 in Patients with Pompe Disease
Pompe Disease Treatment Has Come a Long Way Since This Patient Was First Diagnosed
stux / Pixabay

Pompe Disease Treatment Has Come a Long Way Since This Patient Was First Diagnosed

According to a story from healthbeat.spectrumhealth.org, Tasha Veinbergs was 13 years old when she was first diagnosed with Pompe disease. She was visiting the doctor to treat a small cyst…

Continue Reading Pompe Disease Treatment Has Come a Long Way Since This Patient Was First Diagnosed
Variants of the ACE Gene Not Responsible for Disparities in Pompe Disease Treatment Impact
source: pixabay.com

Variants of the ACE Gene Not Responsible for Disparities in Pompe Disease Treatment Impact

According to a story from Pompe Disease News, a recent study has concluded the polymorphisms of the ACE gene (which are genetic variations that occur naturally) do not have an…

Continue Reading Variants of the ACE Gene Not Responsible for Disparities in Pompe Disease Treatment Impact
Earlier Referral to Specialists Can Speed Up Pompe Disease Diagnosis, Study Finds
ernestoeslava / Pixabay

Earlier Referral to Specialists Can Speed Up Pompe Disease Diagnosis, Study Finds

According to a story from Pompe Disease News, a recent study has found that delays in diagnosis are closely connected to whether someone displaying symptoms of Pompe disease is referred…

Continue Reading Earlier Referral to Specialists Can Speed Up Pompe Disease Diagnosis, Study Finds
Amicus Therapeutics Continue to Develop Investigative Treatments for Fabry, Pompe, and Batten Diseases
Pexels / Pixabay

Amicus Therapeutics Continue to Develop Investigative Treatments for Fabry, Pompe, and Batten Diseases

According to a publication from Fabry Disease News, Amicus Therapeutics has as many as 14 investigational drugs currently in development for the treatment of rare diseases including Fabry, Pompe, and…

Continue Reading Amicus Therapeutics Continue to Develop Investigative Treatments for Fabry, Pompe, and Batten Diseases

Gene Therapy for 12 Rare Diseases will be Investigated Thanks to this Industry-Academia Partnership

Extended Collaboration  Amicus Therapeutics has just announced that they are expanding their collaboration with the University of Pennsylvania's Perelman School of Medicine for the next five years. This collaboration is…

Continue Reading Gene Therapy for 12 Rare Diseases will be Investigated Thanks to this Industry-Academia Partnership

Rare Diseases: Only 10% of India’s 1.37 Billion People Have Health Insurance

In about five years India’s population will exceed that of China which is currently ranked number one according to population. Contrast these numbers with the fact that only ten percent…

Continue Reading Rare Diseases: Only 10% of India’s 1.37 Billion People Have Health Insurance

‘Together We Are Strong’ – Catching Up After International Pompe Disease Day

April 15th is International Pompe Disease Day! The International Pompe Association (IPA) is an organization of Pompe disease patient groups that seeks to coordinate activities and share experiences worldwide.  The…

Continue Reading ‘Together We Are Strong’ – Catching Up After International Pompe Disease Day

The Struggles of being a Rare Disease Patient in China

The State of Rare Diseases in China The Illness Challenge Foundation (ICF) is an organization devoted to easing the burdens that rare disease patients living in China face. They accomplish this…

Continue Reading The Struggles of being a Rare Disease Patient in China
Close Menu