Personalized medicine is the latest craze in patient care. In essence, it refers to the development of treatment options which take into account the patient as an individual. It reduces…
Upcoming Conference The International Society for Mannosidosis & Related Diseases (ISMRD) serves as an international patient advocate for those living with glycoprotein storage diseases. These include alpha-mannosidosis, fucosidosis, mucolipidosis type…
For years FibroGen has been investigating a drug called pamrevlumab. They believe it could be an effective treatment for Duchenne muscular dystrophy (DMD), pancreatic cancer, and idiopathic pulmonary fibrosis (IPF).…
It's one thing to cope with a new rare disease diagnosis. It's another entirely to cope with that diagnosis and then four years later learn that diagnosis is incorrect and…
Biophosphonates (BPs) are common treatments for osteoporosis and metastatic bone cancer. They help to prevent bone loss. Unfortunately, these drugs can have serious side effects. One of the most severe…
Danon Disease Danon disease (DD) is an extremely rare condition that is not very well understood in the medical community. It was first described in 1981, and it is named…
People living with rare diseases such as amyotrophic lateral sclerosis (ALS) or muscular dystrophy as well as those who have suffered from a stroke or spinal cord injury often experience…
Mastocytosis Mastocytosis is a rare disease caused by mutations in the KIT gene. The condition causes mast cells to accumulate in the body. Depending on the location of these immune…
Nigam Shah and Purvesh Khatri, professors at Stanford University, along with graduate student Madeleine Scott have just announced results from a research study which could be pivotal for those living…
Tracheostomies in ALS A tracheostomy is essentially an invasive procedure which helps patients breathe. It also removes secretions from their lungs. Doctors cut an opening into the patient's neck and…
Glioblastoma Glioblastoma is a rare cancer which begins in the brain. Approximately 20% of all tumors that occur in the brain are glioblastomas. These tumors are highly malignant because they…
RADOIR Rare Diseases Foundation of Iran (RADOIR) is an organization dedicated to supporting those living with rare diseases in Iran. It is a nonprofit which was founded in 2008 with…
Bronchiectasis Bronchiectasis is a rare lung disease that currently has no cure and no effective treatment. It causes parts of the airways to become enlarged which results in lung damage.…
ACHM and XLRP Achromatopsia (ACHM) is a rare, inherited retinal disease which causes impaired cone photoreceptor function. Patients experience light sensitivity so extreme that it can cause blindness during the…
Optiz C Syndrome Optiz C syndrome (OCS) is an ultra-rare condition whose symptoms are often mistaken for Bohring-Optiz syndrome, Kabuki syndrome, or Kleefstra syndrome. The disease affects patients physical and…
BOS Bronchiolitis obliterans syndrome (BOS) occurs in 50% of patients who endure a lung transplant. In essence, the patient's immune system attacks the bronchioles in the new lung, causing blockages.…
Huntington's Disease & SCAs Huntington's disease (HD) and spinocerebellar ataxia (SCA) are both neurodegenerative diseases caused by the same type of error in the body's DNA. Essentially, the CAG or…
GO-ALIVE GO-ALIVE was a Phase 3 clinical trial examining the safety and the efficacy of Simponi Aria in ankylosing spondylitis (AS). Simponi was first approved by the FDA in 2009.…
Females vs. Males with Fabry Fabry disease is an X-linked condition caused by a malfunctioning GLA gene. It was long believed to only affect men. Since women have two X…
GT Biopharma has just announced that their Phase 1 clinical trial for Mastocytosis, Myelodysplastic Syndrome (MDS), and Acute Myeloid Leukemia (AML) has been authorized to begin. Although this investigation had previously…
The Burdens of Chronic Disease There are many types of chronic diseases, affecting patients in all kinds of ways. However chronic conditions share one thing in common- they all pose…
Idiopathic pulmonary fibrosis (IPF) is a rare condition with no known cause and no effective treatments besides a lung transplant. Current therapies focus on slowing progression of the disease but…
A new medication called selumetinib has just received Breakthrough Therapy designation by the FDA for pediatric patients diagnosed with neurofibromatosis type 1 (NF1) or inoperable pleciform neurofibromas. This therapy has…
"When only 100 people in the world share your child’s specific gene mutation, it is hard to find anyone who understands, including doctors." Rare diseases are at a disadvantage when…
The FDA has just announced that they've approved Mayzent for the treatment of relapsing multiple sclerosis (MS). Multiple Sclerosis Multiple sclerosis is a neurological autoimmune disease. It causes a wide…
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