Niemann-Pick Disease Type C is a lysosomal storage disorder caused by malfunction of the NPC1 protein. This protein's dysfunction results in a buildup of lipids in the lysosomes. As a…
For the last 3 decades, the only treatment that has been available for hereditary transthyretin-meditated amyloidosis was a liver transplant. The condition is caused by abnormal transthyretin proteins. These proteins…
In 2013 researchers discovered something interesting about the protein BH4. They found that by inhibiting the protein they could reduce patient's pain. A drug was created called Quartet, and it…
The Asia-Pacific Economic Cooperation (APEC) has 21 members including the United States, China, Canada, Australia, Peru, Russia, and Thailand to name a few. They work to encourage the interdependence of the…
The world is recognizing more every day just how important rare disease research is. Yes, rare diseases are rare but they affect millions of people worldwide. The more we can…
4D110 has just received Orphan Drug Designation for the treatment of Choroideremia (CHM). The phase 1 trial of the drug is expected to start in 2019. What is Chorioderemia? Chorioderemia is…
Rare disease research is often underrepresented in the field of science. However, recent developments have made researchers more interested in studying this group of diseases. For instance, investments in gene…
A frequent impediment to rare disease research is cost. It's unfortunate, but it's the reality of the world we live in. That means every fundraising campaign and every dollar raised…
Eltrombopag (Promacta) has now been approved for all individuals in the US with severe aplastic anemia. The drug will be accessible to both pediatric and adult patients. This is huge news.…
Glioma is a type of cancerous tumor that originates in the brain. It has various types and the tumors range in aggressiveness. There are around 11,000 people just in the…
We all got really excited last year when India implemented a new plan to benefit rare disease patients. It was called the National Rare Disease Policy. Basically, it put 12.86…
Limb-Girdle Muscular Dystrophy or LGMD, is a form of Muscular Dystrophy caused by a mutation which disrupts production of the protein beta-sarcoglycan. There are currently no treatment options for LGMD and…
Polycythemia Vera or PV, is a rare blood cancer. It's caused by a mutation which results in the overproduction of red blood cells. Too many blood cells significantly increases your…
REGENXBIO is a biotechnology company that has been developing a technology platform for gene therapy called NAV. AAV9 is one of the vectors being tested with NAV technology as a…
Short bowel syndrome is a malabsorption disorder that causes the body to not get the fluids or nutrients it needs. It can cause dehydration and malnutrition, in addition to other…
Neuroendocrine tumors are growths which form from neuroendocrine cells in various places throughout the body. They can occur in the gastrointestinal track, the pancreas, the lungs, the thymus, and other…
Biobanks store biological samples to help scientists research certain diseases. Registries collect information from patients and standardize it, but no samples are stored. Which of these is best for rare…
Batten disease is a lysosomal storage disorder. It's neurodegenerative, meaning it results in the deterioration of neurons. One of the most common forms of this disease is caused by mutations in the…
Often times it seems that research for the rarest of conditions is brushed aside. Primary attention is given to more common illnesses which affect more people. For instance, in the…
As we age, we become more at risk for certain conditions. For instance, osteoporosis, atrial fibrillation, certain cancers, and heart disease, are more common in older individuals. These conditions pose…
BioMarin has just released an update on their achondroplasia and hemophilia clinical trials. Exciting things are in the works! Achondroplasia Update Achondroplasia causes short stature. A phase 3 trial working to…
In 1993, researchers found one of the causes of familial amyotrophic lateral sclerosis (ALS). ALS is a neurodegenerative disorder which affects the motor neurons. Motor neurons are responsible for transmitting…
Neurofibromatosis is an extremely rare condition. Worldwide it affects just one in four thousand people. Gail Appelgren and Tim Golumbia are two of the individuals living with the illness and…
Epidiolex was the first cannabis-based drug approved in the United States. It was first recommended for FDA approval by an advisory committee in April of 2018. In June of this…
For a long time, neuromuscular diseases such as muscular dystrophy, ALS, and inclusion body myopathy were thought to be caused as a result of toxic clumps of proteins such as TDP-43.…
Sign Up With a Patient Worthy Account and Share Your Rare Story
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
