NORD: March 2011 Report

A Celebration of Women



March 2011 eNews

NORD Welcomes Five New Board Members

Five noted leaders in the rare disease community have been elected to the NORD Board of Directors. Details.

NORD Forming Coalition on Medical Foods Issue

At a conference hosted by NORD in Washington DC last month, approximately 80 patient advocates, physicians, genetic metabolic dietitians, and others agreed to form an ongoing coalition to address problems related to accessing the medical foods required for treatment of several rare diseases. Senator John Kerry (D-MA) has recently re-introduced legislation on this topic (Medical Foods Equity Act of 2011). Also discussed were the needs for consistency among state mandates and for a precise definition of medical foods. The coalition will be moving forward on these and other fronts. Watch for future updates.

  Megan Thompson, of Senator Kerry’s office, provided an update on the legislation.   Speakers included R. Rodney Howell, MD, Chair of the Secretary’s Advisory Committee on Heritable Disorders.  
Also speaking were Christine Brown, National PKU Alliance; Amy Cunningham, RD, Genetic Metabolic Dietitians International; and Jana Monaco, Organic Acidemia Association.
John Snyder, MD, North American Society for Pediatric Gastroenterology, and Carol Greene, MD, Society of Inherited Metabolic Diseases, also spoke.

Senator Casey Introduces Creating Hope Act

U.S. Senator Bob Casey (D-PA) on March 17 introduced the Creating Hope Act of 2011 , a bipartisan bill to encourage the development of treatments for rare and neglected diseases affecting children. Among other things, this bill would expand priority review vouchers to include rare pediatric diseases. NORD supports this legislation and encourages our members also to do so. NORD President and CEO Peter L. Saltonstall was quoted in the press release from Sen. Casey’s office announcing the introduction of the bill. Read the press release.

Sign Online Petition to Tell Congress You Oppose NIH Funding Cuts

An Ad Hoc Group for Medical Research has circulated a link to an online petition opposing threatened budget cuts to the National Institutes of Health (NIH). As Congress moves to finalize FY 2011 appropriations, patient advocates and others are making their voices heard about the importance of maintaining strong medical research programs. The petition will be kept open until the FY 2011 spending bill is finalized. Sign the petition.

“Do A Designation” Workshop Draws Good Response

The two-day workshop hosted by FDA in conjunction with Rare Disease Day has resulted in at least 12 applications for orphan designation. FDA’s Office of Orphan Products Development conducted the workshop at the Keck Graduate Institute in California. This series provides hands-on help from FDA orphan product experts. The next in the series will take place in August at the University of Minnesota.

NORD Posts RFPs for Research Grants

NORD this week posted funding opportunities for 2011 through its Research Program. Funding is available this year for the study of adenoid cystic carcinoma, corticobasal degeneration, diffuse scleroderma, pseudomyxoma peritonei, trimethylaminuria and Tarlov cysts. The deadline for submission of abstracts and letters of intent is May 20, 2011. Questions may be directed to [email protected]. Read the RFPs.

Pharmaceutical Research and Manufacturers of America (PhRMA) Releases Annual Report on Rare Diseases

This year’s PhRMA report states that 460 drugs to treat rare diseases are currently in clinical trials or are awaiting Food and Drug Administration (FDA) review. There has been a steady increase in development of rare disease treatments over the past 20 years, due in part to basic science research and the Orphan Drug Act. Read the report.

Policy News

Part D Off-Label Prescription Parity Act

Reps. Mac Thornberry (R-TX) and Russ Carnahan (D-MO) have introduced H.R. 1055 – The Part D Off-Label Prescription Parity Act. This is the same bill introduced in the 111th Congress by Rep. Thornberry and former Rep. Mary Jo Kilroy. NORD is supporting this act that would allow Medicare coverage for off-label use of medications for chronic illnesses based on a physician’s professional judgment or evidence from the medical literature. Read the press release.

NIH News

TRND is Accepting Applications for Collaborative Projects

The National Institutes of Health (NIH) has announced the opening of its second solicitation for collaborative projects through the NIH Therapeutics for Rare and Neglected Diseases (TRND) program. Applications may be submitted online and the application deadline for the second cycle of this solicitation is April 26, 2011.

TRND will, in collaboration with successful applicant partners, develop clinical candidates for rare and neglected diseases. Collaborators can be academic, biotechnology, pharmaceutical, or foundation researchers, domestic or foreign. Additional information is available on the TRND website.

The Science of Small Clinical Trials

The NIH Office of Rare Diseases Research and the FDA Office of Orphan Products Development have announced that registration is open for their live/online course, The Science of Small Clinical Trials. This course focuses on the issues arising in the design and analysis of clinical trials based on small study populations. All participants must register and can attend seven two-hour lectures at the FDA campus in Silver Spring, MD or view them online by delayed on-demand video streaming. The eight-hour lecture series will be held between April 19 and May 12. This course is free of charge, but lecture hall seating and online connections are limited to 120 and 800 participants, respectively. More information and registration.

Rare Disease Day Observed at NIH Clinical Center

The NIH marked the Fourth Annual Rare Disease Day on February 28 with a full day program highlighting rare disease research activities. Read about the program. The videocasts of this event are now available. Morning session . Afternoon session.

National Center for Advancing Translational Sciences (NCATS) Webinar

FasterCures hosted a webinar about the proposed new NCATS center at the National Institutes of Health featuring NIH Director Francis Collins. Visit FasterCures to view the webinar.

FDA News

FDA Office of Special Health Issues Newsletter

A new bi-monthly newsletter provided by the Office of Special Health Issues at the Food and Drug Administration is intended to provide information about FDA-related information on a variety of topics, including new product approvals, significant labeling changes, safety warnings, notices of upcoming public meetings, proposed regulatory guidance and opportunity to comment, and other information of interest to patients and patient advocates. To sign up for this newsletter:

Click on Get Email Updates
Click on Consumer Health Information
Click on Patient Network News
Type in your email address and click on Go

Recent Drug Approvals

Benlysta (belimumab), co-developed by Human Genome Sciences and GlaxoSmithKline, has been approved for the treatment of lupus. More information.

Yervoy (ipilimumab), developed by Bristol-Myers Squibb and Medarex, had been approved for the treatment of metastatic melanoma. More information.

Recent Orphan Drug Designations

Fate Therapeutics Inc. has received orphan drug designation for FT1050 for the treatment of human allogenic hematopoietic stem cells to enhance stem cell engraftment by treating neutropenia, thrombocytopenia, lymphopenia and anemia.

Infinity Pharmaceuticals Inc. has received orphan drug designation for IPI-926 for treatment of chondrosarcoma.

Stemline Therapeutics, Inc. had received orphan drug designation for SL-401 for the treatment of acute myeloid leukemia.

Genus Oncology, LLC has received orphan drug designation for its oncoprotein (MUC1) targeting peptide, GO-203-2c for the treatment of pancreatic cancer.

Aegerion Pharmaceuticals has received orphan drug designation for lomitapide to treat familial chylomicronemia.

Cytonet has received orphan drug designation for its liver cell therapy to treat urea cycle disorders.

Insmed Inc. has received orphan drug designation for Arikace to treat Pseudomonas infections in patients with cystic fibrosis.

NATCO Pharma Limited has received orphan drug designation for its anti-cancer drug, NRC-AN-019, for treatment of glioma, pancreatic cancer and chronic myelogenous leukemia.

News from NORD Member Organizations

Cardio-Facio-Cutaneous Syndrome International (CFC International)

The CFC International will hold its 6th International Family Conference and Medical Clinic Program July 28-30 in Chicago, IL. More information and registration.

Ehlers-Danlos National Foundation (EDNF)

The EDNF will hold its 2011 Learning Conference July 21-23 in Baltimore, MD. More information and registration.

The Fibromuscular Disease Society of America (FMDSA)

The FMDSA Forth Annual Conference will be held May 13-14 in Cleveland, OH. More information and registration.

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.

Cholesteryl Ester Storage Disease (CESD)

Synageva BioPharma Corp. has initiated a clinical study to evaluate the safety, tolerability, and pharmacokinetics of SBC-102 as an enzyme replacement therapy for CESD. CESD is a late onset form of lysosomal acid lipase (LAL) deficiency, characterized by hepatomegaly, persistently abnormal liver function tests, and type II hyperlipidemia. Splenomegaly and evidence of mild hypersplenism may affect some patients. Many of the signs and symptoms are common to patients with other liver conditions. Untreated, CESD may lead to fibrosis, cirrhosis, liver failure and death. For more information contact Jennifer Burg at 781-357-9900 or visit this webpage.

Ehlers-Danlos Syndrome Type IV (EDS type IV)

Researchers at the University of Washington are interested in learning more about EDS type IV (vascular EDS) pregnancies. Complications including uterine and arterial rupture, hemorrhage, and death have been reported during and after pregnancy in women with EDS type IV. A goal of the study is to develop recommendations for pregnancy management, counseling, and the route of delivery. Individuals with EDS type VI who have been pregnant may be eligible. Medical records from deceased relatives with EDS type IV who have been pregnant are also of interest. For additional information please contact: Melanie Pepin, MS, CGC at [email protected] or 206-543-5464 or toll free (1-888-288-7362); Dru Leistritz, MS, CGC at [email protected] or 206-543-5464 or Mitzi L. Murray, MD at [email protected] or 206-685-5495.
(note: confidentiality of email communication can not be guaranteed)

Long QT Syndrome

A genetic counseling student at Stanford University is conducting an anonymous research survey of adults who grew up in a family affected by long QT syndrome. Researchers plan to measure the psychological impact of growing up at risk for this condition. To participate, go to: The password to open the survey is LQTS. For more information, contact Kyla Dunn at [email protected] (email preferred) or 650-724-7190, mailbox 2.

Mothers of Children with Rare or Undiagnosed Disorders

A doctoral student at the Wurzweiler School of Social Work is conducting an interview study of mothers of children under age four with a rare or undiagnosed disorder. Interviews last approximately 80 minutes and can be conducted in person, by SKYPE on the Internet, or by phone. Participants will be compensated for their time. For more information, contact Rachel Kier Reeder at [email protected] or 973-641-8957.

Rare Disease Testing

Diagnosis of Rare Platelet Type von Willebrand Disease (PT-VWD)

PT-VWD results from mutations in the GPIBA gene, but symptoms are identical to the more common type 2B VWD. Researchers have utilized DNA testing to determine that approximately 15% of patients in an international registry have PT-VWD, but were initially misdiagnosed. Misdiagnosis of PT-VWD may result in ineffective treatment because drugs used to treat type 2B VWD can aggravate bleeding in those with PT-VWD. More.


Routine Mental Health Screening in Individuals with Phenylketonuria (PKU)

Preliminary results of the ADAPT (A Diversified Approach for PKU Treatment) program recently presented at the American College of Medical Genetics annual meeting showed that 29% of patients screened positive for psychiatric distress. Patients who screened positive had significantly higher blood phe levels compared to patients who screened negative. Incorporation of mental health screening into standard care of PKU patients is recommended. Read the abstract.


Sirolimus Therapy for Lymphangioleiomyomatosis (LAM)

Results of the Multicenter International LAM Efficacy of Sirolimus (MILES) trial indicate that sirolimus (rapamycin) shows promise for stabilizing and/or improving lung function in patients with LAM. LAM is a life-threatening condition sometimes associated with tuberous sclerosis complex that occurs almost exclusively in women and is associated with shortness of breath and recurrent lung collapse. More.

Guidelines for Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia (HHT)

HHT is a treatable but under-diagnosed genetic condition that can be associated with stroke and life-threatening hemorrhage in children and adults. Guidelines have been published for the diagnosis of HHT and the prevention and treatment of disease complications. The guidelines working group included experts from eleven countries. More.

Management of Barrett’s Esophagus

The American Gastroenterological Association (AGA) Institute has published a medical position statement on the management of Barrett’s esophagus. Since approximately 1 in 200 patients with Barrett’s esophagus will develop esophageal cancer each year, the AGA has recommended that patients with advanced pre-cancerous cells (high grade dysplasia) have these cells removed endoscopically. Read the statement.

Upcoming Meetings and Webcasts

Medical Policy and Molecular Diagnostics Genetic Testing Forum

The World Research Group is partnering with the National Society of Genetic Counselors on a conference scheduled for April 26-27 in Washington, DC to help payers and providers to manage coding, authorizations and determine clinical validity of molecular diagnostic and genetic tests. More information and registration.

Should We Return Individual Research Results and Incidental Findings from Genomic Biobanks & Archives?

The University of Minnesota Consortium on Law and Values in Health, Environment & the Life Sciences is sponsoring a conference on May 19 in Bethesda, MD to convene leading experts on bioethics, genomics, biobanking, and law to recommend policies and practices on returning incidental findings and individual research results that may have importance for the patient donor. More information and registration.


Tuberous Sclerosis Alliance (TS Alliance) Seeks Chief Scientific Officer

The TS Alliance, the only national voluntary health organization for tuberous sclerosis complex (TSC), is recruiting to fill its Chief Scientific Officer (CSO) position. A PhD in a science-related field and/or MD required. Interested candidates should submit their cover letter, resume and salary requirements to [email protected] by April 1. Details.

Uplifing Athletes Names Rare Disease Champion

Uplifting Athletes, a nonprofit organization uniting college football teams to raise awareness and funds in the fight against rare diseases, has named Princeton University Running Back Jordan Culbreath its 2011 Uplifting Athletes Rare Disease Champion. The honor recognizes his inspirational battle with aplastic anemia and his triumphant return to the field. More.

Runners Using Medical Device Therapy Sought

Medtronic is recruiting runners from around the world who benefit from medical device therapy to participate in the sixth annual Medtronic Global Heroes program. Up to 25 runners will be selected to receive two paid entries into the Medtronic Twin Cities Marathon events on Oct 2, 2011 in Minnesota. Recipients will receive a travel package that includes airfare for the Global Hero and guest. Medtronic Foundation will also donate $1,000 to a non-profit patient organization. The application is available in six languages, and must be submitted by April 15, 2011. More information and registration.

Websites and Blogs of Interest

National Healthcare Transition Center

Got Transition is the new National Health Care Transition Center supported by a cooperative agreement between the US Maternal and Child Bureau/HRSA and the Center for Medical Home Improvement (CMHI) at Crotched Mountain Foundation. Through partnerships among youth, families, health professionals, and policy makers, Got Transition focuses on helping youth and young adults with disabilities towards the care and services needed in adulthood; helping families to anticipate and plan to support their youth’s independence; and assist pediatric and adult primary care and specialty care teams to assess transition needs and support a seamless and coordinated transfer to adult care. Visit the site.

Genome Statute and Legislation Database

This database is comprised of state statutes and bills introduced during the 2007-2010 state legislative sessions. The database focuses on statutes and bills that address employment nondiscrimination, insurance nondiscrimination and privacy issues. Visit the site.

My Cancer Genome

Vanderbilt-Ingram Cancer Center (VICC) has launched My Cancer Genome to help physicians and researchers keep track of new developments in personalized cancer medicine and locate appropriate clinical research trials for their patients. Visit the site.

Sage Bionetworks

Sage Bionetworks is a nonprofit biomedical research organization dedicated to applying genetic research to improve disease therapies through the coordination and linkage of academic and commercial biomedical researchers. Visit the site.

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