Rare Disease News and Research

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Long ring finger linked to Lou Gehrig’s disease

In some of the latest studies it has been found that finger length could be linked to various traits in people with amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig’s disease. These people tend to have longer ring fingers, compared with their index fingers, than do people without the disease.

11 May 2011

EMA agrees to Swedish Orphan Biovitrum, Biogen Idec's pediatric rFIXFc trial in hemophilia

Biogen Idec and Swedish Orphan Biovitrum today announced that the European Medicines Agency's Pediatric Committee has adopted an opinion agreeing to the pediatric investigational plan for the companies' long-lasting, fully-recombinant Factor IX Fc fusion protein.

9 May 2011

Pfizer’s Revatio receives European Commission approval for pediatric treatment of pulmonary arterial hypertension

Pfizer Inc. announced that Revatio (sildenafil citrate) has been approved by the European Commission for the treatment of pediatric patients aged 1 to 17 years old with pulmonary arterial hypertension. Efficacy in terms of improvement of exercise capacity or pulmonary hemodynamics has been shown in primary pulmonary hypertension and pulmonary hypertension associated with congenital heart disease.

5 May 2011

Selexys begins patient enrollment in SelG1 Phase I study for sickle cell disease

Selexys Pharmaceuticals announced today that it has initiated enrollment in a Phase I clinical study of its lead compound, SelG1, a humanized anti-P-selectin antibody.

5 May 2011

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

White matter disease covers a large group of disorders that affect the white matter, or myelin. In children these disorders are commonly genetic and often go undiagnosed. In new research, a team led by Raúl Estévez, a lecturer from the Department of Physiological Sciences II, based at the UB's Bellvitge Health Sciences Campus, working with the researcher Marjo van der Knaap, from the University Medical Centre at VU University Amsterdam, have identified mutant GLIALCAM as responsible for 25% of cases of megalencephalic leukoencephalopathy with subcortical cysts, a rare genetic disease affecting cerebral myelin.

4 May 2011

Rare disease guidelines can help improve treatment quality

People with rare diseases have the same right to high-quality health care in line with current medical knowledge as other patients do. However, relevant and reliable clinical studies on rare diseases are often lacking. Among other things, this makes the development of corresponding guidelines more difficult, but precisely such guidelines could help improve treatment quality.

2 May 2011

Scientists develop novel genetic model of premature aging disorders

Working with a group of national and international researchers, scientists from the Florida campus of The Scripps Research Institute have developed a new genetic model of premature aging disorders that could shed light on these rare conditions in humans and provide a novel platform for large-scale screening of compounds to combat these and other age-related diseases.

29 Apr 2011

CBI, Children's Rare Disease Network and Global Genes Project partner for Rare Disease Leadership Summit

The Center for Business Intelligence (CBI), a division of Advanstar Communications, is pleased to announce a partnership with the Children's Rare Disease Network and The Global Genes Project for the 6th Annual Rare Disease Leadership Summit coming up July 12 - 13, 2011 at the Doubletree Hotel in Washington, D.C.

28 Apr 2011

FDA approves orphan drug designation for Cytrx’s INNO-206 to treat pancreatic cancer

CytRx Corporation, a biopharmaceutical company specializing in oncology, today announced that its tumor-targeting pro-drug candidate INNO-206 has been approved for orphan drug designation for the treatment of patients with pancreatic cancer by the Office of Orphan Products Development of the U.S. Food and Drug Administration (FDA). CytRx holds the exclusive worldwide development and commercialization rights to INNO-206.

28 Apr 2011

Researchers begin approved drugs screening for clinical use against rare diseases

Researchers have begun screening the first definitive collection of thousands of approved drugs for clinical use against rare and neglected diseases. They are hunting for additional uses of the drugs hoping to find off-label therapies, for some of the 6,000 rare diseases that afflict 25 million Americans.

28 Apr 2011

New findings show relation between breast implants and anaplastic large cell lymphoma

Breast implants appear to be associated with a rare form of lymphoma, but there is not yet evidence to show that the cancer is caused by implants or to suggest an underlying mechanism for how the disease might develop, according to a study by researchers from the RAND Corporation.

20 Apr 2011

Scientists detect several biomarkers to screen active drugs for Batten disease

Goethe University and Harvard Medical School start screening for active ingredients for the treatment of Batten disease

20 Apr 2011

Rituxan receives FDA approval for treating two rare diseases

The U.S. Food and Drug Administration today approved Rituxan (rituximab), in combination with glucocorticoids (steroids), to treat patients with Wegener's granulomatosis (WG) and microscopic polyangiitis (MPA), two rare disorders that cause blood vessel inflammation (vasculitis).

20 Apr 2011

IU, Ohio and Kentucky partner to advance childhood disease research

Children's doctors in Indiana soon will partner with colleagues in Ohio and Kentucky through a new program focused on working across state lines to advance research on childhood disease.

19 Apr 2011

Genentech receives FDA approval for Actemra to treat juvenile idiopathic arthritis

The U.S. Food and Drug Administration today approved Actemra, given alone or in combination with methotrexate, for the treatment of active systemic juvenile idiopathic arthritis in children ages 2 years and older.

15 Apr 2011

Sirolimus may help treat lymphangioleiomyomatosis in women

An Oregon Health & Science University researcher has co-authored an international study that revealed a drug approved to prevent rejection in organ transplant patients helped treat a rare lung disease in women.

12 Apr 2011

Research on rare cancers

A cancer diagnosis can be a life-changing event. Many questions arise, with one of the first being, "Where should I be treated?" Patients diagnosed with rare cancers may have difficulty finding a physician knowledgeable in treating their type of cancer.

11 Apr 2011

Sanofi-aventis acquires Genzyme

Sanofi-aventis announced today that it has completed its acquisition of Genzyme Corporation, which is now a wholly-owned subsidiary of sanofi-aventis.

11 Apr 2011

Shionogi launches CUVPOSA for pediatric chronic severe drooling

Shionogi Inc., the U.S.-based group company of Shionogi & Co., Ltd., today announced the U.S. commercial availability of CUVPOSA™ (glycopyrrolate) oral solution, the first and only FDA-approved treatment to reduce chronic severe drooling in patients aged 3 to 16 with neurologic conditions associated with problem drooling, such as cerebral palsy.

7 Apr 2011

Zacharon, Pfizer enter research collaboration to develop drugs for orphan diseases

Zacharon Pharmaceuticals, Inc. today announced that the company has entered into a strategic research collaboration with Pfizer Inc. to develop drugs for orphan diseases, including lysosomal storage disorders. The potential value of the collaboration to Zacharon is approximately USD $210 million. The collaboration includes the potential development of compounds that may be discovered using Zacharon's innovative platform for developing small molecule drugs targeting specific carbohydrate polymers or glycans.

7 Apr 2011

Rare Disease News and Research

Long ring finger linked to Lou Gehrig’s disease

EMA agrees to Swedish Orphan Biovitrum, Biogen Idec's pediatric rFIXFc trial in hemophilia

Pfizer’s Revatio receives European Commission approval for pediatric treatment of pulmonary arterial hypertension

Selexys begins patient enrollment in SelG1 Phase I study for sickle cell disease

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

Rare disease guidelines can help improve treatment quality

Scientists develop novel genetic model of premature aging disorders

CBI, Children's Rare Disease Network and Global Genes Project partner for Rare Disease Leadership Summit

FDA approves orphan drug designation for Cytrx’s INNO-206 to treat pancreatic cancer

Researchers begin approved drugs screening for clinical use against rare diseases

New findings show relation between breast implants and anaplastic large cell lymphoma

Scientists detect several biomarkers to screen active drugs for Batten disease

Rituxan receives FDA approval for treating two rare diseases

IU, Ohio and Kentucky partner to advance childhood disease research

Genentech receives FDA approval for Actemra to treat juvenile idiopathic arthritis

Sirolimus may help treat lymphangioleiomyomatosis in women

Research on rare cancers

Sanofi-aventis acquires Genzyme

Shionogi launches CUVPOSA for pediatric chronic severe drooling

Zacharon, Pfizer enter research collaboration to develop drugs for orphan diseases

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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