October 2011 eNews

Nearly 400 Participate in NORD Conference

At the U.S. Conference on Rare Diseases and Orphan Products in Washington DC Oct. 11-13, NORD released a major new study documenting flexibility in the Food and Drug Administration (FDA) review of potential treatments for patients with rare diseases.  The study examined the approval of 135 non-cancer orphan drugs since 1983.  Read the report and NORD’s press release.

Speakers Include NIH Director, Social Security Commissioner, and Key FDA Officials

Other highlights of the conference included presentations by NIH Director Francis Collins, MD, PhD; Janet Woodcock, MD, director of FDA’s Center for Drug Evaluation and Research; and Fred Hassan, MBA, chairman of the board of Bausch & Lomb.  With approximately 80 speakers, there were tracks for patient organization leaders, industry/investors, and rare disease investigators.

Social Security Commissioner Michael Astrue made a surprise announcement that 13 additional rare conditions have been approved for the SSA Compassionate Allowances list.  This is a list of diagnoses so disabling that those who have them qualify for expedited review of disability assistance applications.  Read the SSA press release.

View photos  and highlights of the conference on the NORD website.  Co-sponsors were NORD and DIA (the Drug Information Association), with collaboration from FDA, NIH, EURORDIS (the European Rare Disease Association) and Duke University School of Medicine.

NORD VP Presents Invited Testimony at Public Hearing on PDUFA

Diane Dorman spoke as an invited participant on the patient panel at the final public hearing on PDUFA V, hosted by FDA on Oct. 24.  PDUFA refers to the Prescription Drug User Fee Act, which must be reauthorized periodically.  Dorman, who is NORD’s vice president of public policy, spoke in support of provisions related to rare diseases in the current draft of PDUFA.  She also focused on two topics of particular interest to rare disease patients at this time:  risk tolerance and conflict of interest.  Read Dorman’s testimony on the NORD website.

Monday’s hearing was the final opportunity for public input on the current PDUFA draft.  The draft now will go to the congressional committees of jurisdiction, which are the Energy and Commerce Committee in the House of Representatives and the HELP (Health, Education, Labor & Pensions) Committee in the Senate.

Patient Advocates Ask FDA To Let Them Help Define Risk

Recently, NORD and approximately 30 of its member organizations and advocacy partners sent letters to key FDA officials seeking more frequent and regular opportunities for patients to provide input to FDA related to relative risks and potential benefit for new drugs and medical devices.  FDA responded with an invitation to a follow-up meeting with key FDA officials from CBER, CDER and CDRH to further discuss the topic.  “FDA’s response has been very positive.  NORD is extremely pleased with FDA’s desire to facilitate patient input,” said NORD VP of Public Policy Diane Dorman.  Read the letters.

Read NORD’s press release.

NORD Helps Fund Groundbreaking Study

A groundbreaking study in the journal Nature Medicine suggests what could become the first effective treatment for the debilitating central nervous system disease known as SCA1.  The study was funded by NIH, NORD, the Brain Research Foundation and the National Ataxia Foundation.

NIH News

Undiagnosed Diseases Program (UDP) Documents Two Year Experience

The UDP was able to diagnose 39 (24%) of accepted patients based on clinical, biochemical, pathologic, or molecular methods.  21 diagnoses involved rare or ultra-rare diseases. Two new disorders were discovered. The program currently has a backlog of applications and since July 2011 has suspended acceptance of new applications until November 2011.  More.

FDA News

International Collaborations Aim to Improve Safety of Medical Products

The US Food and Drug Administration (FDA) is working with the World Health Organization, the Pan American Health Organization and the World Organization for Animal Health on projects designed to improve the safety of medical products through monitoring of substandard medicines and development of an information hub to share regulatory data.  More.

Recent Drug Approvals

Deferiprone (Ferriprox tablets, ApoPharma Inc.), a new oral chelator drug, has been approved for treating thalassemia-related iron overload that has not responded to other iron-removing drugs.  More.

Clobazam (Onfi tablets, Catalent Pharma Solutions LLC for Lundbeck Inc.) have been approved for use as an adjunctive (add-on) treatment for seizures associated with Lennox-Gastaut syndrome in adults and children 2 years of age and older. Onfi was previously granted orphan drug designation by the FDA. More.

Recent Orphan Drug Designations

4SC has received orphan drug designation for Resminostat to treat Hodgkin’s lymphoma.

Tarix Pharmaceuticals has received orphan drug designation for TXA127 to treat pulmonary arterial hypertension.

Provectus Pharmaceuticals Inc. has received orphan drug designation for Rose Bengal, the active component in PV-10 to treat hepatocellular carcinoma.

Ultragenyx Pharmaceuticals, Inc. has received orphan drug designation for UX001 to treat hereditary inclusion body myopathy.

Funding Opportunities

NeuroNEXT

NeuroNEXT is accepting applications for scientifically sound, possibly biomarker-informed, phase 2 clinical trials in neurological disorders.  The first receipt date is December 2.  More.

Baby’s First Test Challenge Awards

Genetic Alliance will distribute several awards up to $20,000 each for organizations to integrate Baby’s First Test into new or existing outreach, engagement, or educational efforts.  Proposals will be funded that detail innovative solutions to challenges in the newborn screening system.  Proposals will be accepted until November 7, 2011, 6:00 PM EST.  More.

Patient and Family Resources

Talking Glossary of Genetics

The Talking Glossary of Genetics Terms features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.  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.

Cholesteryl Ester Storage Disease

Synageva BioPharma Corp. has expanded a clinical study to US patients to evaluate the safety, tolerability, and pharmacokinetics of SBC-102 as an enzyme replacement therapy for cholesteryl ester storage disease (CESD). CESD is a late onset form of lysosomal acid lipase (LAL) deficiency, characterized by hepatomegaly, persistently abnormal liver function tests (LFTs) 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 .

Rare Disease Testing

Maturity-Onset Diabetes of the Young (MODY)

MODY can occur in childhood or adulthood and can be misdiagnosed as type 1 or type 2 diabetes.  Clues that suggest MODY include a lack of autoantibodies in a presumed diagnosis of type 1 diabetes or a diagnosis of type 2 diabetes in someone who is not overweight or three or more consecutive generations of family members with a diagnosis of diabetes.  It is important to consider a diagnosis of MODY in order to offer genetic testing because a specific genetic diagnosis has implications for treatment and may identify family members who may be at risk.  More.

Research

Gene Mutation Linked to Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)

Two teams of researchers have found that a short DNA sequence in a non-coding region of the C9ORF72 gene on chromosome 9 is repeated many more times in nearly half of familial ALS cases in Finland and more than a third of familial cases in other European populations.  The defect is also the strongest genetic risk factor found to date for the more common, non-inherited, sporadic forms of these diseases.  It was found in 3% of sporadic FTD and 4% of sporadic ALS samples.  An immediate benefit of theses findings may be to develop better screening tests for individuals at risk for these conditions.  More.

International News

Moving Forward in Australia

In April, a major rare disease symposium took place in Fremantle, Western Australia, hosted by a consortium of public health officials, medical professionals, and patient organizations.  It was the first step in an effort to create a more coordinated approach to rare diseases and orphan products in Western Australia with the hope of ultimately coordinating efforts nation-wide.  Representatives of NORD, EURORDIS, and Genetic Alliance spoke at the symposium.  Now, a newsletter has been established to continue the conversation.  Read the first issue on NORD’s website.

Asia-Pacific Prader-Willi Syndrome (PWS) Conference

The 2^nd PWS Asia-Pacific Conference will be held in Sydney, Australia March 10-11, 2012.  The two day conference provides an opportunity for scientists, professionals, parents and caregivers to join together and share expertise.  More.

Upcoming Meetings and Webcasts

Patient-Centeredness in Policy and Practice: A Conference on Evidence, Programs, and Implications

Diane Dorman, NORD’s Vice President of Public Policy, will be presenting at the Emergency Care Research (ECRI) Institute’s 18th Annual Conference in a session titled “The Use of Evidence in Patient-Centered Informed Consent in Practice and in Clinical Trials.”  This is a free live conference on November 29 and 30 at FDA’s White Oak Campus, Silver Spring, MD.   More information and registration.

Miscellaneous

Proposed Changes To Federal Regulations Governing Human Subject Research Protection May Impact Newborn Screening

Concern has been expressed by the Preserving the Future of Newborn Screening Coalition that some parents may refuse newborn screening because of fears of future research use of blood samples.  The Coalition has prepared a letter to the Office for Human Research Protections outlining the concerns.  Organizations and individuals who wish to sign on the letter should contact Kelly R. Leight, JD at [email protected] .  The deadline for public comment on this issue is October 26 at 5PM.

Websites and Blogs of Interest

“Plan Finder” Reviews Medicare 2012 Plan Options

The Centers for Medicare & Medicaid Services (CMS) has launched access to its popular web-based “Medicare Plan Finder” that allows beneficiaries, their families, trusted representatives, and senior program advocates to look at all local drug and health plan options that are available for the 2012 benefit year.  Visit the site.