Patients & Caregivers
Lysosomal Storage Disorders
New Treatment for MPS VI (Maroteaux-Lamy Syndrome) In Development
Current treatment for MPS VI is ERT [Naglazyme] or hematopoietic stem cell transplant but more treatment options are needed.
Penn Researchers Find Biomarker To Monitor Cognitive Change in MPS Patients
Penn is offering access to this biomarker to the orphan disease research community for all research purposes at no cost
Batten Disease Treatment Gets Orphan Drug Designation
Polaryx announced that its drug PLX-200 as a treatment for late infantile neuronal ceroid lipofuscinosis (LINCL) was granted Orphan Drug Designation by the FDA.
Genetic Counselors and Fabry Disease
When you find 1 patient with Fabry disease, on average there are 5 additional family members with the disease.
Fabry Disease - What a Clinician Needs to Know
Physicians should understand the Fabry disease basics but they don't have to be experts. They should, however, know where to find experts.
Fabry Disease: An X-Linked Genetic Disease
Dawn Laney, genetic counselor at Emory University explains the genetics of Fabry disease and how it may present in men vs women.
Newborn Screening and Fabry Disease: What We Know and Don't Know
Fabry disease is not on the RUSP at this time. That doesn't mean it shouldn't be screened for.
Gene Therapy Attenuates Cognitive Decline in Sanfilippo Type B
Intracerebral gene therapy infusions in 4 children with Sanfilippo type B led to sustained enzyme production & improved cognitive functions.
Amicus Getting Ready to Submit NDA for Migalastat to Treat Fabry
Gene Therapy for Juvenile Batten Disease Gets Orphan Drug Designation
The AAV-based gene therapy is being designed as a single intravenous infusion to treat children with the currently fatal rare disease.
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