Currently, the standards-of-care for patients with Hurler syndrome, or one of the forms of mucopolysacchardiosis type I (MPS I), include enzyme replacement therapy and hematopoietic stem cell transplants. However, Medical…
In 2019, Connor Dobbyn, now 13, was diagnosed with Sanfilippo syndrome type C, also known as mucopolysaccharidosis III (MPS III). After his diagnosis, his parents came to recognize that there…
The FDA, the NIH, 5 nonprofits, and 10 pharmaceutical companies, have formed an official partnership to accelerate gene therapy development for rare diseases. Out of 7,000 known rare diseases, just…
Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…
From November 21st until the 23rd, medical professionals and others involved in the metabolic field will come together for the 14th International Congress of Inborn Errors of Metabolism (ICIEM). It…
According to an article published in Yahoo, the FDA has recently granted the Rare Pediatric Disease designation to AVR-RD-05, a gene therapy for Hunter syndrome. This designation is reserved for…
Canavan disease is an ultra-rare condition that currently has no FDA-approved therapies, meaning that patients face a severe unmet medical need. BridgeBio Pharma aims to change this with their investigational…
Currently, about 90% of cystic fibrosis (CF) patients have a treatment option. This percentage jumped from 50% to 90% upon the approval of Trikafta. However, the remaining 10% of CF…
The National Organization for Rare Disorders (NORD) held its virtual Rare Diseases and Orphan Products Breakthrough Summit on October 18-19, 2021. Patient Worthy was able to sit in on some…
Previously, clinical-stage genetic medicines company Homology Medicines, Inc. ("Homology") submitted an Investigational New Drug (IND) application to the FDA for HMI-103, an investigational gene editing therapy designed to treat phenylketonuria…
Fast Track designation is requested by the drug company; this process and designation are designed to facilitate the development and review of therapies which can treat serious or underserved conditions,…
Recently, biopharmaceutical company PTC Therapeutics, Inc. performed a five-year data analysis to evaluate the continued safety, efficacy, and tolerability of PTC-AADC. The company developed this novel gene therapy to improve…
Unfortunately, clinical trials do not always proceed the way that drug developers - and patients - hope. For example, an ongoing Phase 1/2 clinical trial evaluating BMN 307, an investigational…
There are now plans in place to study a gene therapy for GNE myopathy (GNEM), with human dosing expected to begin in 24 months. The plans were developed by the…
Astellas Pharma has seen their ASPIRO trial put on clinical hold for the second time after the fourth patient passed away. The Phase I/II trial is evaluating AT132, a potential…
For rare diseases in which no current treatment options are available, such as GM1 gangliosidosis, there is an urgent need to find therapeutics and improve patient outcomes. Gene therapy company…
According to a recent press release from Pfizer and biotechnology company Vivet Therapeutics, VTX-801, a gene therapy candidate for patients with Wilson disease, recently received Fast Track designation from the…
During clinical trials, the FDA may sometimes order a clinical hold. This order is often given to halt or suspend trial operations if the FDA believes that participants would…
According to a story from BioPharma Dive, gene therapy for Fabry disease is still in its early stages of development. However, it is already beginning to show potential as a…
According to a press release from late July 2021, LX1004, a treatment for patients with CLN2 Batten disease, received both Orphan Drug and Rare Pediatric Disease designations from the…
Previously, biopharmaceutical company XyloCor Therapeutics ("XyloCor") performed the first portion (dose-escalation) of the Phase 1/2 EXACT clinical trial evaluating its investigational treatment XC001 (encoberminogene rezmadenovec) for patients with refractory…
Spinal muscular atrophy is rare progressive muscular disease that over time, erodes a patient’s movement. Without early intervention, the condition erodes the young patients ability to breathe and even swallow.…
On July 8, 2021, gene therapy company Lysogene shared that its gene therapy candidate LYS-GM101, for patients with GM1 gangliosidosis, received Fast Track designation from the FDA. Currently, no treatments…
As reported in I News; scientists may have found a cure for a devastating and fatal brain disease, and the world of rare brain diseases may never be the same.…
According to a story from GlobeNewswire, the gene therapy company LEXEO Therapeutics has recently announced that its investigational gene therapy LX2006 has been granted both Orphan Drug designation and Rare…
© Copyright 2024 Patient Worthy
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.
