Rare Disease News and Research RSS Feed - Rare Disease News and Research

Researchers confirm for the first time that achalasia is autoimmune in origin

Researchers confirm for the first time that achalasia is autoimmune in origin

Achalasia is a rare disease - it affects 1 in 100,000 people - characterized by a loss of nerve cells in the esophageal wall. [More]
EMA recommends full marketing approval for IMBRUVICA in the European Union

EMA recommends full marketing approval for IMBRUVICA in the European Union

Pharmacyclics, Inc. today announced that the Committee for Medicinal Products for Human Use of the European Medicines Agency issued a positive opinion recommending the granting of full marketing approval for IMBRUVICA (ibrutinib) in the European Union. [More]
Zydelig gets FDA approval for treatment of patients with three types of blood cancers

Zydelig gets FDA approval for treatment of patients with three types of blood cancers

The U.S. Food and Drug Administration today approved Zydelig (idelalisib) to treat patients with three types of blood cancers. [More]
Shire, ArmaGen partner to develop AGT-182 drug for treatment of Hunter syndrome

Shire, ArmaGen partner to develop AGT-182 drug for treatment of Hunter syndrome

Shire plc, the global specialty biopharmaceutical company, and ArmaGen, a US privately held biotechnology company, today announced a worldwide licensing and collaboration agreement for AGT-182, an investigational enzyme replacement therapy (ERT) for the potential treatment of both the central nervous system (CNS) and somatic manifestations in patients with Hunter syndrome (MPS II). [More]
Researchers collaborate to tackle rare diseases

Researchers collaborate to tackle rare diseases

Support from a network of leading researchers across Europe specialised in a rare auto-immune disease with unmet medical needs could help test several novel treatments [More]
FDA approves Ruconest for treatment of acute attacks in adolescent patients with HAE

FDA approves Ruconest for treatment of acute attacks in adolescent patients with HAE

The U.S. Food and Drug Administration yesterday approved Ruconest, the first recombinant C1-Esterase Inhibitor product for the treatment of acute attacks in adult and adolescent patients with hereditary angioedema (HAE). [More]
Sigma-Tau Rare Disease seeks EMA approval for use of Oncaspar for ALL treatment

Sigma-Tau Rare Disease seeks EMA approval for use of Oncaspar for ALL treatment

Sigma Tau Pharma Ltd. (hereinafter referred to as Sigma-Tau Rare Disease), today announced the submission of an application to the European Medicines Agency for use of its pegylatedL-asparaginase, Oncaspar (pegaspargase) for the treatment of Acute Lymphoblastic Leukaemia (ALL) as part of a multi-agent chemotherapeutic regimen. [More]
Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Lysosomes are subcellular organelles that are present in most cells, with the major exception of red blood cells. [More]
Beleodaq gets FDA approval for treatment of patients with peripheral T-cell lymphoma

Beleodaq gets FDA approval for treatment of patients with peripheral T-cell lymphoma

The U.S. Food and Drug Administration today approved Beleodaq (belinostat) for the treatment of patients with peripheral T-cell lymphoma (PTCL), a rare and fast-growing type of non-Hodgkin lymphoma (NHL). The action was taken under the agency's accelerated approval program. [More]
CHEO, ONF jointly launch first comprehensive pediatric concussion guidelines

CHEO, ONF jointly launch first comprehensive pediatric concussion guidelines

Pediatric emergency medicine researchers at the Children's Hospital of Eastern Ontario together with the Ontario Neurotrauma Foundation today launch the first comprehensive pediatric concussion guidelines. [More]
Patients with Cushing’s syndrome experience significant weight loss while taking oral medication

Patients with Cushing’s syndrome experience significant weight loss while taking oral medication

Sinai Hospital of Baltimore endocrinologist, Henry G. Fein, M.D., today presented new research showing that patients with Cushing's syndrome, a rare disease that can lead to extreme weight gain, type 2 diabetes, high blood pressure and psychological issues, experienced significant, sustained weight loss while taking oral medication daily over a number of years to manage symptoms of the disease. [More]
Aradigm begins Pulmaquin Phase III study for treatment of non-CF BE

Aradigm begins Pulmaquin Phase III study for treatment of non-CF BE

Aradigm Corporation ("Aradigm" or the "Company") today announced the dosing of the first patient in the ORBIT-4 (Once-daily Respiratory Bronchiectasis Inhalation Treatment) Phase III pivotal clinical trial of Aradigm's proprietary formulation of inhaled ciprofloxacin (Pulmaquin®) for the treatment of non-cystic fibrosis bronchiectasis (non-CF BE). [More]
Cincinnati Children’s, Alexion Pharmaceuticals establish ‘Rare Disease Innovation Fund’

Cincinnati Children’s, Alexion Pharmaceuticals establish ‘Rare Disease Innovation Fund’

Alexion Pharmaceuticals, Inc. and Cincinnati Children's Hospital Medical Center today announced the establishment of a collaboration and fund for the advancement of research in rare disease. [More]
Insurers face difficult cost and coverage calculations regarding gene-sequencing tests

Insurers face difficult cost and coverage calculations regarding gene-sequencing tests

Aimee Robeson just wants an answer. Her son, Christian, was born in 2010 with multiple, mysterious syndromes that leave him unable to speak, chew, or walk on his own. [More]
Research to assess breastfeeding knowledge and confidence of Canadian physicians

Research to assess breastfeeding knowledge and confidence of Canadian physicians

The results of a national research project to assess breastfeeding knowledge, confidence, beliefs, and attitudes of Canadian physicians are available today in the Journal of Human Lactation. [More]

2014 DIA patient fellows illustrate the power of patient advocacy

The 2014 DIA patient fellows illustrate the power of patient advocacy. A Parkinson's disease patient is the driving force in the success of clinical trials, recruiting patients and transporting them to research sites while saving researchers thousands of dollars. [More]
Ocugen's OCU100 gets FDA orphan drug designation for treatment of retinitis pigmentosa

Ocugen's OCU100 gets FDA orphan drug designation for treatment of retinitis pigmentosa

Ocugen, Inc. and the University of Colorado today announced exclusive license agreements that allow for Ocugen to continue developing two drug candidates for the treatment for ophthalmology indications, and that one of the assets, OCU100, recombinant lens epithelium derived growth factor 1-326 (LEDGF1-326), received orphan-drug status from the U.S. Food and Drug Administration for treatment of retinitis pigmentosa (RP), a rare eye disease. [More]

NORD's letter to FDA raises concerns on rare diseases

In a letter submitted today to the U.S. Food and Drug Administration (FDA), the National Organization for Rare Disorders (NORD) urged Commissioner Margaret Hamburg to give serious consideration to the concerns of the rare disease community when setting policy regarding official names for biologics, including biosimilars. [More]
Cerenis’ SAMBA and MODE Phase II Studies Meet Primary Endpoints for Treatment of FPHA, HoFH

Cerenis’ SAMBA and MODE Phase II Studies Meet Primary Endpoints for Treatment of FPHA, HoFH

Cerenis Therapeutics, the biopharmaceutical company, today announced that two of its Phase II studies, SAMBA and MODE (Modifying Orphan Disease Evaluation), with CER-001, an engineered human apoA-I-containing pre-β HDL mimetic, met their primary clinical endpoints in patients with Familial Primary Hypoalphalipoproteinemia (FPHA) and Homozygous Familial Hypercholesterolemia (HoFH), respectively. [More]
Newron Pharmaceuticals submits safinamide NDA to FDA

Newron Pharmaceuticals submits safinamide NDA to FDA

Newron Pharmaceuticals S.p.A. ("Newron"), a research and development company focused on novel CNS and pain therapies, and its partner Zambon S.p.A., an international pharmaceutical company strongly committed to the CNS therapeutic area with a long experience in respiratory disease therapies, woman care and primary care, announce that the New Drug Application (NDA) for safinamide was submitted today to the US Food and Drug Administration (FDA). [More]