Rare Disease Report

NORD News for September 2017 - The Voice of the Community

SEPTEMBER 19, 2017
Earn CME Credits at the NORD Summit
For the first time, NORD’s Rare Diseases & Orphan Products Breakthrough Summit will be CME-accredited this year. In addition, an interactive half-day symposium to take place on the day before the Summit, also will be CME-accredited.

The location for both events is the Marriott Wardman Park Hotel in Washington DC. The Summit will take place on Monday and Tuesday, Oct. 16 and 17.

On Sunday, Oct. 15, an interactive half-day symposium to focus on diagnostic hurdles, tools and resources is planned. Topics to be covered at the two-day Summit include:
  • Next-Generation Treatments and Advancing Clinical Trials
  • The Challenge of Healthcare Costs and Treatment Prices
  • Assuring Patient Access: Future Outlook for Patient Assistance Programs
  • An Evergreen and Sustainable Approach to Orphan Drugs
The NORD Breakthrough Summit is an annual event attracting approximately 600 participants from the rare disease community. This year’s keynote addresses will be delivered by Food and Drug Administration (FDA) Commissioner Scott Gottlieb MD and Mike Porath, father of a child with a rare disease and founder/CEO of The Mighty.

NORD is partnering with the University of Massachusetts Medical School and UMass Continuing Medical Education on the CME events. Online registration is open now for both events.

Nearly 140 Patient Organizations Sign NORD’s Letter to Congress on Orphan Drug Tax Credits
NORD and nearly 140 other patient organizations have sent a letter to Congress in support of the Orphan Drug Tax Credit (ODTC). The tax credit is one of the financial incentives included in the Orphan Drug Act to encourage development of treatments for people with rare diseases.

NORD considers the ODTC extremely important and conducted a study in 2015 that indicated there would be one-third fewer orphan products developed if the tax credit did not exist.

The letter is addressed to Senators Orrin Hatch and Ron Wyden of the Senate Committee on Finance and Representatives Kevin Brady and Richard Neal of the House Committee on Ways & Means. All members of those Senate and House committees also are copied.

“As organizations representing millions of American men, women and children with rare diseases, we are writing to express our strong support for the Orphan Drug Tax Credit (ODTC),” the letter begins. “We understand that Congress is developing tax reform proposals and we urge you to keep this critical tax credit in place.”

The ODTC is part of the package of provisions enacted in 1983 in the Orphan Drug Act to encourage development of therapies for rare diseases or those affecting fewer than 200,000 Americans.

In June 2015, NORD and the Biotechnology Innovation Organization (BIO) published an economic analysis of the ODTC that quantifies the impact the ODTC has on incentivizing orphan drug development. The analysis found that, without the ODTC, approximately 33 percent fewer orphan therapies would be developed.

Join Running for Rare Team for Hartford Full and Half Marathon
October 1 is the deadline to sign up as a runner or community partner for Running for Rare Team’s participation in the Eversource Hartford (CT) Full- and Half-Marathon to take place on Oct. 14. Each runner is paired with a community partner who is a patient advocate. The team runs to raise funds for NORD’s program to assist undiagnosed patients. Write to runningteam@rarediseases.org or visit the web page.

NORD Outlines Healthcare Reform Recommendations
In a letter to the Senate and House leadership, NORD has outlined both short-term and long-term measures to stabilize the current health insurance markets and provide reforms to improve health coverage for patients in the future. The letter was sent to Senate Majority Leader Mitch McConnell and Minority Leader Chuck Schumer, along with Speaker of the House Paul Ryan and House Minority Leader Nancy Pelosi.

The letter reflects principles outlined in a document NORD and several advocacy partners submitted to Congress in February titled Principles for Health Coverage Reform. These principles represent features and provisions that NORD and its partners would consider essential to include in any healthcare reform plan.

Rare Disease Film Festival is Planned
Films from around the world featuring the challenges of life with a rare disease will be shown in the first-ever Rare Disease Film Festival to take place in Boston on Oct. 2-3. Tickets are on sale now and the event is open to all. Additional information is available here.


Alport Syndrome Research Funding is Awarded
Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrome Foundation, Pedersen Family and The Kidney Foundation of Canada.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss and eye abnormalities. When the Alport Syndrome Foundation was established in 2007, there was little funding or interest in researching this rare condition. In recent years, partly as a result of the foundation’s support for research and development of basic resources to assist researchers, several potential new treatments have entered the pipeline and are in development. Read more about this and the recent funding awards on the foundation’s website.

Multiple Endocrine Neoplasia Support Program Planned at NIH
On Oct. 20, physicians and nurses from the NIH Clinical Center will share the latest medical information about multiple endocrine neoplasia 1, 2A and 2B. They will also provide an iupdate on the clinical studies at the NIH. The American Multiple Endocrine Neoplasia Support organization provides information about this on its website.

Conan O’Brien to Host Congenital Hyperinsulinism International Event
Popular television star Conan O’Brien will emcee the 2017 “Sugar Soiree” in New York City on November 19 to be hosted by Congenital Hyperinsulinism International. This annual event is a fundraiser for programs to benefit those living with hyperinsulinism (HI). It will take place at The Grill and The Pool restaurants in New York City.

CurePSP International Research Symposium to Take Place in San Francisco
CurePSP (Progressive Supranuclear Palsy) will host an international research symposium at the Mission Bay Conference Center at UCSF in San Francisco on Oct. 26-27. The program will begin with a network session and reception on the evening of Oct. 26. A full day of scientific presentations and a poster session follows on Oct. 27. Leading investigators will present their latest research results in PSP, corticobasal degeneration (CBD) and related topics. Additional information is available here.

Foundation Fighting Blindness Opens USH2A Natural History Study
The first patient has been enrolled in a four-year, 120-person study of the rate of disease progression and severity in people with mutations in the USH2A gene, a mutation that causes blindness and in some cases the loss of both vision and hearing. Additional information is available here.

MDS Foundation to Host Upcoming Events in California and Georgia
Join the MDS Foundation for free one-day Patient and Family/Caregiver Forums in Stanford CA and Atlanta GA. Both events take place on Oct. 28.

MitoAction Plans Patient & Family Social
A Mito Patient & Family Social gathering will take place on Sept. 23 in Athens TN. The intent is to provide an opportunity to share stories and resources, give and get support, make new friends and forge connection with others experiencing the same challenges.

National Ataxia Foundation Observes Awareness Day
Ataxia is a rare disease with symptoms that worsen over time. Degeneraiton in the brain gradually makes it difficult to walk and talk, and symptoms can make a person appear intoxicated. Sept. 25 has been designated International Ataxia Awareness Day. The National Ataxia Foundation is promoting awareness activities.

National PKU Alliance Posts 2018 Call for Research Proposals and Fellowships
To continue its mission and advance PKU research, the National PKU Alliance has released its 2018 Call for Research Proposals and Fellowships. Nov. 1 is the deadline for full proposals. Award notices will be given by Jan. 31, with funding to begin on March 1.

PSC Partners Seeking a Cure Surpasses 1,000 Patients in International Registry … and Makes an Unexpected Finding Regarding Misdiagnosis
PSC Partners Seeking a Cure, a nonprofit organization providing education, support and research on behalf of those affected by primary sclerosing cholangitis, has recruited more than 1,000 patients for the international patient registry for those with this rare condition. The registry is designed to be a resource for researchers who are working to develop much-needed therapies for PSC since the disease currently has no effective treatment.

An unexpected result of the registry enrollment process is that some patients who tried to enroll learned, after answering a series of questions about their diagnosis and symptoms, that they do not actually have PSC. Instead, they have primary biliary cholangitis (PBC), a distinctly different disease that also affects the bile ducts.

This misdiagnosis is significant because effective treatment exists for PBC and patients who had been misdiagnosed with PSC may have been missing out on treatment that would slow the progression of their disease.

September is Pulmonary Fibrosis Awareness Month
The Pulmonary Fibrosis Foundation encourages participation in awareness activities during September. Activities include patient and physician education programs, general awareness activities, and fundraising for research.

TESS Research Foundation Announces Grant Recipients
The TESS Research Foundation has announced the recipients of its 2017 research grants. These grants fund research in citrate transport, seizure disorders and neuronal development. “Applicants hailed from around the world and included world-class institutions and drug development start-up companies,” said Matthew Bainbridge PhD, associate director of clinical genomics research at Rady Children’s Hospital and TESS Research Foundation Scientific Advisory Board Member. Read about the grant recipients here.

XLH Network to Host XLH Day
Registration is open for XLH Day at the Annual Patient/Family Conference of the XLH Network. Information is available on the website.

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