Rare Disease Report


Kanuma's approval was based partly on a clinical trial led by Barbara Burton, MD, Northwestern University Feinberg School of Medicine in Chicago, Illinois.
Familial partial lipodystrophy is a rare, genetic disorder in which patients are unable to store fat or triglycerides in normal fat stores so excess triglycerides builds up in various organs and the blood.
MyoKardia, Inc., announced initial clinical data from two Phase 1 trials of MYK-461, which targets the underlying cause of hypertrophic cardiomyopathy (HCM).
The FDA extended the PDUFA date to allow additional time to review the new CMC information. The FDA has not asked for additional clinical data.
Results of a recent prospective cohort observational study have revealed that diffuse interstitial myocardial fibrosis is common in Alström syndrome (ALMS), though not universal.
The Progeria Research Foundation is currently accepting research proposals specific to Hutchinson-Gilford Progeria Syndrome (HGPS, or Progeria). Awards Range from $50,000 to $300,000.
Pradigastat may offer several benefits to patients with familial chylomicronemia syndrome (FCS).
Patients with lysosomal acid lipase (LAL) deficiency appear to have higher 10-year Framingham cardiovascular risk than the general population. Sebelipase alfa (SA) treatment likely reduces that risk, based on an analysis of patients over 30 years of age in a poster presented at National Lipid Association (NLA) Scientific Sessions held in Chicago, Illinois this weekend.
Sandra Tremulis, president and founder of the Lipoprotein(a) Foundation, talks about the need for lipoprotein(a) to be routinely tested in patients to improve awareness, diagnosis, management, and research for patients with high lipoprotein(a).
In an exclusive interview with Rare Disease Report, Don WIlson, MD, FNLA, of Cook Children's Physician Network in Fort Worth, Texas talks about cholesterol and triglyceride testing in pediatric patients.
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