NORD to Honor Rare Disease Heroes at 30th Anniversary Celebration
Honoring heroes of the past and innovators of the future, NORD will host a 30th Anniversary Celebration for the entire rare disease community on Tuesday, May 14. More.
Sami Said, MD Distinguished Professor and NORD Medical Advisor
NORD is deeply saddened by the death of its longtime medical advisor and friend, Sami Said, MD, a Distinguished Professor of the State University of New York. Dr. Said served for more than a decade on NORD's Medical Advisory Committee and was a dedicated partner to the rare disease patient community. More.
NORD Announces Funding for Seven New Research Grants
NORD is offering 7 research grant awards in 2013:
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Adult Primary Lateral Sclerosis (PLS)
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Dubowitz Syndrome (DS)
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Glycine Encephalopathy, (Nonketotic Hyperglycinemia) (NKH)
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Growth Failure in Children with Cardifaciocutaneous Syndrome (CFC)
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Post-Orgasmic Illness Syndrome (POIS)
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Pseudomyxoma Peritonei (PMP) -- (two grants)
The submission deadline for abstracts with letters of intent is May 15. More.
RareConnect™ Launches 40th Online Community
RareConnect™, the global online communities network co-hosted by EURORDIS and NORD, recently announced that the community for rare undiagnosed brain diseases has been launched. This community was created in collaboration with several patient support groups including the Wilhelm Foundation, SWAN UK, and
SWAN USA. Visit the site.
Policy News
Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) Will Discuss Newborn Screening for Pompe Disease
The 1st meeting of the DACHDNC will be held as a webinar on May 16 and 17. A final report on Pompe disease for possible inclusion on the Recommended Uniform Screening Panel (for newborns) is on the agenda. Register by May 13 to attend the meeting or submit public comments. More.
NIH News
The National Institutes of Health (NIH) has announced that funding is available for gene function studies in rare diseases. Three to five studies will be funded under the Undiagnosed Diseases Program in Fiscal Year 2014 to investigate the underlying genetics, biochemistry and/or pathophysiology of newly diagnosed diseases. Letters of intent are due May 14 and applications are due June 15. More.
FDA News
Recent Drug Approvals
The FDA has approved Tecfidera (dimethyl fumarate) capsules to treat adults with relapsing forms of multiple sclerosis. Tecfidera is made by Biogen Idec. Read the press release.
The FDA has approved Procysbi (cysteamine bitartrate) for the management of nephropathic cystinosis in children and adults. Procysbi is marketed by Raptor Pharmaceuticals. Read the press release.
The FDA has approved Actemra (tocilizumab) for the treatment of active systemic juvenile idiopathic arthritis (SJIA). SJIA, also known as Still’s disease, affects about 10 percent of all juvenile arthritis patients. Actemra is marketed by Genentech Inc. Read the press release.
Recent Orphan Drug Designations
Hadasit Bio Holdings Ltd. has received orphan drug designation for its Apocell treatment for graft-versus-host disease, which affects 70 percent of patients who receive bone marrow transplants.
Genable Technologies has received orphan drug designation for its gene therapy product GT308 to treat the eye disease retinitis pigmentosa.
Infinity Pharmaceuticals, Inc. has received orphan drug designation for its potential treatment for chronic lymphocytic leukemia and small lymphocytic lymphoma.
Teva Pharmaceutical Industries and Xenon Pharmaceuticals, Inc. have received orphan-drug designation for the investigational drug XEN402 for the treatment of pain associated with erythromelalgia.
Recent Breakthrough Therapy Designations
Pharmacyclics, Inc. has received an additional breakthrough therapy designation for the investigational oral agent ibrutinib as monotherapy for the treatment of chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) with deletion of the short arm of chromosome 17 (deletion 17p).
Scioderm has received breakthrough therapy designation for its SD-101 product for treatment of epidermolysis bullosa.
News from NORD Member Organizations
NORD Welcomes New Member Organizations
NORD is happy to welcome the following new Member Organizations:
Alpha-1 Association
The Association’s 22nd annual National Education Conference will be held in Washington, DC on June 7-9. More.
Angelman Syndrome Foundation (ASF)
The 2013 ASF Biennial Conference will be held July 23-26 in Orlando, FL. More. Families interested in scholarships must apply by May 9.
Children’s Cardiomyopathy Foundation (CCF)
The CCF has announced the availability of one-year research grants for studies focused on all forms of pediatric cardiomyopathy. Letters of intent are due June 14. More.
Lowe Syndrome Association (LSA)
The LSA is seeking proposals for research grants regarding Lowe syndrome/OCRL/oculocerebrorenal syndrome. Up to $25,000 for one year is available and applications are due June 15. More.
The Mastocytosis Society
The Mastocytosis Society, Inc. (TMS) and Mastokids (MKO) are accepting proposals for research grants for new or ongoing projects related to pediatric mastocytosis or pediatric mast cell activation syndrome. $60,000 is available and applications are due June 1. More.
Oxalosis and Hyperoxaluria Foundation (OHF)
The OHF in collaboration with the Rare Kidney Stone Consortium & Mayo Clinic Hyperoxaluria Center will present the Rare Kidney Stone Patient Meeting & Walk in Rochester, MN on June 7-8. More.
Pulmonary Hypertension Association (PHA)
The Empowered Patient Online Toolkit is a resource designed by experienced pulmonary hypertension (PH) patients and healthcare professionals to help patients create their own PH-specific medical binder. Access the toolkit. Complete Coping with Pulmonary Hypertension Guides are available for those newly diagnosed, long-term survivors, parents, caregivers, and teens. Access the guides.
Soft Bones Foundation
The Soft Bones Foundation is offering a one time “seed grant” of $25,000 for basic or clinical research directly related to hypophosphatasia. Applicants must hold an MD, DDS, DO, or PhD degree and have a faculty level appointment at an academic institution that will manage the award. Applications are due July 1. More.
Turner Syndrome Society of America (TSSUS)
The 26th Annual TSSUS Conference will be held in Dallas, TX, July 12-14.More.
Funding Opportunities
Patient-Centered Outcomes Research Institute (PCORI)
PCORI has issued two funding announcements for up to $68 million to support development of a National Patient-Centered Clinical Research Network. Letters of intent are due June 19. More.
Peroxisomal Biogenesis Disorder/Zellweger Spectrum Disorder (PBD/ZSD)
The Global Foundation for Peroxisomal Disorders has announced the availability of small grants designed to assist investigators in obtaining preliminary findings, testing “proof of concept”, or conducting research to support full-scale grant applications related to PBD/ZSD. The application deadline is June 14. More.
Patient Recruitment
Anyone considering participating in a clinical trial should discuss the matter with his or her physician. NORD does not endorse or recommend any particular studies.
Myotubular Myopathy (MTM)
The MTM Genetic Testing Study will provide genetic testing to children and adults who have symptoms of X-linked MTM and a muscle biopsy that confirms a centronuclear myopathy who have either not had genetic testing or have had genetic testing that came back negative. This study is being conducted by the Congenital Muscle Disease International Registry in collaboration with other groups and is funded by Valerion Therapeutics. More.
Another study will look at health complications connected to muscle disease, such as emergency room visits/hospitalizations, reaction to a medication, or complication from a medical procedure. More. Contact the study coordinator for additional information at mtm@cmdir.org or 424-265-0874.
Rare Disease Testing
Genetic Testing Indicated Following Diagnosis of Pheochromocytoma and Paraganglioma
A recent study found that 41% of patients diagnosed with the neuroendocrine tumors pheochromocytoma and paraganglioma had a genetic mutation associated with a hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome. It is important to pursue genetic testing for patients with these tumors in order to identify family members for whom biochemical and clinical surveillance is indicated. More.
Research
Special Journal Supplement on Research Methods in Rare Diseases
A special journal supplement to the Journal of General Internal Medicine on research methods for evaluating health outcomes in rare diseases will be published in 2014. Abstracts are due by May 31. More.
Treatment
Older Antibiotic May Benefit Children with Fragile X Syndrome
A small placebo-controlled trial found that minocycline resulted in improved function and mood in children with fragile X syndrome (FXS). The safety of this medication has been well studied, but additional research is needed to determine the dosage and length of treatment that is appropriate for FXS. More.
Gene Testing May Help Identify Scleroderma Patients Who Will Benefit from Common Treatment
A small pilot study found that scleroderma patients who have a particular gene expression in skin are more likely to benefit from mycophenolate mofetil treatment than those who do not have this genetic profile. Scleroderma therapies can lead to severe, life-threatening adverse reactions, so it is important to identify appropriate therapy for individual patients. More.
International News
EURORDIS Pharmacovigilance Website
“Pharmacovigilance” refers to the monitoring of medicines, particularly in the area of safety and side effects. EURORDIS’ new Pharmacovigilance section, available in seven languages, emphasizes the importance of reporting any problems patients experience with their medicine – whether a prescription drug or an over-the-counter treatment. More.
Upcoming Meetings and Webcasts
2013 Health Disparities & Genomics Conference
The University of Miami is partnering with Stanford University to hold this conference in San Francisco, May 29-31. More.
National Sibling Leadership Network (SLN) Conference
The SLN Conference provides an opportunity for siblings of people with disabilities and those who care about siblings to hear from national experts on related services, research, and advocacy efforts. This meeting will be held June 6 in Pittsburgh, PA. More.
Dive into the Gene Pool
The American Academy of Pediatrics, in collaboration with the National Coalition for Health Professional Education in Genetics, will present a 1½ day conference dedicated to providing primary care pediatric professionals with practical guidance to support the early identification and management of patients with genetic conditions. This meeting will be held August 9-10 in Chicago. More.
Translational Research in Genomic Medicine
A major challenge for the next decade is to determine when and how genomic information can be usefully applied in clinical and public health practice. This course will be held August 15-16 at Emory University in Atlanta, GA to detail a systemic approach for evaluating evidence on the validity and utility of genomic health applications. More.
Miscellaneous
The Economics of Genomic Medicine-Workshop Summary
In the near future, genomic sequence data may become a routine component of clinical diagnosis, risk assessment, prevention, and drug selection. The Institute of Medicine conducted a roundtable in July, 2012 to discuss the many economic factors involved in implementation of this technology. Read the summary.
Shire Brave Awards
The Shire BRAVE Awards program is an initiative to acknowledge ordinary people who give of themselves by caring for others in a meaningful, dedicated and selfless manner. Each recipient of a BRAVE Award receives $10,000 USD or the local country currency equivalent. Nominations are due June 30. More.
Websites and Blogs of Interest
Genetics in Primary Care Institute (GPCI)
The purpose of the GPCI is to increase primary care provider knowledge and skills in providing genetic-based services. Their new website provides resources, references, and educational opportunities. Visit the website.
FDA Patient Network
The FDA Patient Network website is an interactive tool for educating patients, patient advocates, and consumers about how medications - both prescription and over-the-counter - and medical devices are developed, marketed and regulated.
Primary Immune Deficiency Diseases (PIDDs)
The National Institute of Allergy and Infectious Diseases has established a web page with information about PIDDs, the NIH Primary Immune Deficiency Clinic, and ongoing research. Visit the site.
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