Myotonic dystrophy type 2 is a rare and poorly understood condition. Even less understood is its relation to recurrent ventricular tachycardia, which is even rarer. Myotonic Dystrophy Type 2 Myotonic…
Ala Moshiri from the University of California is both a researcher and an eye doctor. He recently discussed his frustration surrounding the lack of available treatments for so many genetic…
A new study has examined the long-term impacts of esophageal dilation in eosinophilic esophagitis (EoE). The aim was to uncover the link between dilation and symptom reports. Additionally, the research…
The New Era for Preventing End-Stage Kidney Disease Act (H.R. 7506) is a new Act sponsored by Reps Gus Bilirakis and G.K. Butterfield. This Act would transform care for those…
Galecto has announced they have completed enrollment in their Phase2b trial which will investigate GB0139 as a treatment for idiopathic pulmonary fibrosis (IPF). This trial is called GALACTIC-1. Galecto anticipates…
Mastocytosis refers to an entire group of disorders. All of these conditions are characterized by a rapid production of mast cells (MCs), which are abnormal. This overproduction can occur in…
Inozyme Pharma has recently announced that the first patient was dosed in its Phase 1/2 clinical trial of INZ-701 in adult patients with ABCC6 Deficiency and the second cohort in…
Ultragenyx Pharmaceutical Inc. has just announced the first dosing in their Phase 2/3 trial investigating setrusumab (UX143) as a treatment for osteogenesis imperfecta (OI) patients. This trial is called Orbit,…
Patient Worthy is delighted to announce that the National Society of Genetic Counselors (NSGC) has joined us as an advocacy partner! Genetic counselors play a critical role for individuals, families,…
The Fatty Liver Foundation (FLF) has just announced a new national survey which will document the experiences and needs of individuals living with non-alcoholic fatty liver disease (NAFLD) and nonalcoholic…
Nobelpharma has just announced the FDA approval of sirolimus .2% gel (called Hyftor). It is now the first approved, topical therapy for facial angiofibroma associated with the rare condition tuberous…
Living with a rare disease is difficult for so many reasons. One of the lesser talked about struggles of living with a rare condition is the fact that so few…
PNH Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease where blood cells break apart and cause the contents to circulate freely within the bloodstream. This condition is caused by a…
Colette Romero's son is diagnosed with eosinophilic esophagitis (EoE), a rare disease. She discusses how, among the challenges that come with this condition, education has presented extra difficulties. Education and…
Lysogene has just announced a new study has been published in the journal EMBO Molecular Medicine which demonstrates that DGKk is able to produce long-term rescue of fragile X syndrome (FXS).…
The CDC has published a warning concerning a rare disease called meningococcal disease spreading in Florida. So far in 2022, the number of documented cases has surpassed the five year…
Fibromyalgia is a condition that is characterized by fatigue, memory issues, and musculoskeletal pain. It is also associated with depression, anxiety, and irritable bowel syndrome (IBS). Symptoms of fibromyalgia include…
Theravance Biopharma Inc. has just released results from their 2nd Phase 3 investigation of Ampreloxetine as a therapy for symptomatic neurogenic orthostatic hypotension (nOH). Symptomatic nOH NOH is a rare…
The VHL Alliance has just recognized Loyola Medicine as a new VHL Clinical Care Center. Von Hippel-Lindau (VHL) disease patients require multidisciplinary care for their complex and rare condition, and…
April 21st is AML World Awareness Day! Acute myeloid leukemia (AML) is a rare cancer which affects people around the world. On awareness day, patients, caregivers, healthcare organizations, advocates, physicians,…
A team of researchers from Yale School of Public Health, including Dr. Peter Krause, Dr. Durland Fish, Demerise Johnston, and others, have published a study in the journal Clinical Infectious Diseases documenting a…
A study recently published in the journal ESMO Open has documented new biomarkers which may be able to predict efficacy outcomes of antiangiogenic therapies (such as surufatinib) in patients diagnosed with neuroendocrine…
The Timothy Syndrome Alliance (TSA) has just announced that they will be collaborating with Pulse Infoframe to create a patient registry. This registry will increase our understanding of the CACNA1C…
A recent study has evaluated the incidence of thromboembolic events (TEE) in patients diagnosed with advanced HR-positive, HER2-negative breast cancer. Specifically, researchers were concerned that treatment with cyclin dependent kinase…
A recent study has examined the characteristics and the clinical outcomes for individuals with severe anti-neutrophil cytoplasmic antibody-associated vasculitides (AAVs). AAVs are a very rare group of systemic autoimmune conditions.…
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.
