Rare Disease Report


The US Food and Drug Administration (FDA) granted Abiomed's application for a humanitarian device exemption for the Impella RP System, a percutaneous medical device designed to assist the heart with circulation in adult or pediatric patients who have right heart failure or inadequate blood flow from the right side of the heart.
President of the Progeria Research Foundation (PRF), Audrey Gordon, discusses the clinical trials PRF is involved with, as well as the role PRF is playing in getting as many progeria patients as possible on a treatment.
Aegerion Pharmaceuticals has acquired metreleptin (Myalept), a drug approved in February 2014 as an adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy.
On the heels of positive findings from a randomized, double-blind, phase III trial comparing sebelipase alfa (SBC-102) with placebo in individuals with lysosomal acid lipase (LAL) deficiency, Synageva BioPharma submitted a Biologics License Application (BLA) to the US Food and Drug Administration (FDA) in December 2014 with a request for priority review.
Homozygous familial hypercholesterolemia (HoFH) is an exceedingly rare, life-threatening autosomal dominant disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDL) levels (>500 mg/dL).
One of the most pleasant surprises of being part of a rare disease organization is the interesting people you will meet.
Gordon and Gordon's editorial "The Progeria Research Foundation: Its Remarkable Journey From Obscurity to Treatment"is a must read for the rare disease community. And the key takeaway message was quite simple...Working together is exponentially better than working alone.
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