Organization News

The FDA promotes rare disease programs through various initiatives, including the Rare Disease Innovation Hub, which acts as a central point of contact and fosters collaboration between different centers. The agency also offers incentives through the Orphan Drug Act, such as tax credits and market exclusivity, and provides grants through the Orphan Products Grants Program to support clinical trials and research. Recently, the FDA introduced the Rare Disease Evidence Principles (RDEP), a new process to offer more flexibility in the evidence required for the approval of certain rare disease therapies.

Key FDA programs and initiatives

• Rare Disease Innovation Hub: A cross-center program to serve as a single point of contact for the rare disease community, improve collaboration between centers like CDER and CBER, and advance regulatory science.
• Orphan Drug Act: A law that incentivizes drug development for rare diseases by providing sponsors with benefits like tax credits for clinical testing, waivers for user fees, and potential market exclusivity.
• Orphan Products Grants Program: Provides funding for research and development to address unmet medical needs for rare diseases. This includes grants for clinical trials and natural history studies.
• Rare Disease Evidence Principles (RDEP): A new process for eligible therapies targeting ultra-rare genetic diseases. It offers a flexible approach to regulatory approval by allowing for the consideration of additional supportive data, which may include evidence from mechanistic studies, non-clinical models, and case reports, in addition to a pivotal study. Please use this link to know more about this expedited development process. https://www.fda.gov/news-events/press-announcements/fda-advances-rare-disease-drug-development-new-evidence-principles
• Support for clinical Trials Advancing Rare disease Therapeutics (START) Pilot Program: A program that offers participants frequent advice and enhanced communication from FDA staff to address development issues like clinical study design and the choice of control group. 

All these activities and policies by FDA help to:

• Lowering barriers: RDEP provides a new pathway for the approval of certain drugs, reducing the regulatory burden for therapies targeting ultra-rare diseases where traditional clinical trial data may be difficult to obtain.
• Improving collaboration: The Innovation Hub facilitates a more coordinated approach within the FDA, helping to address common challenges and create a shared vision for rare disease drug development.
• Providing financial support: Grants from the Orphan Products Grants Program provide crucial funding for companies and researchers to conduct the clinical trials needed to bring new treatments to market.
• Offering expert guidance: Programs like START offer direct, frequent guidance from FDA staff, helping developers navigate complex development hurdles and accelerate progress. 

• Pricing includes all online content on Monday, October 18, and Tuesday, October 19, 2021, as well as access to the recorded sessions for 30 days after the conclusion of the live program.
• Credit card payment is required to complete the registration. Visa, Mastercard, American Express, and Discover are accepted.
• All advertised discounts are taken from the full, standard rate.

***By attending this event, I am granting the National Organization for Rare Disorders (NORD) permission to use my image(s) and quotes from the program, whether in a screenshot, photo or as a recording, for purposes including but not limited to enduring archived recording and/or transcript of event, marketing and/or promotions.***

Substitution and Cancellation 

NORD is committed to providing quality programming available for viewing at your convenience. Registrants may attend the live virtual event or access its content on demand for 30 days post-event. For this reason, a confirmed registration may not be canceled. Registration may be transferred to another member of your family or organization up to 24 hours before the Forum. Please contact events@rarediseases.org to provide a substitute email address so that access can be changed. NORD reserves the right to alter this program without prior notice. Please note: speakers and agenda are subject to change. In the event of a speaker cancellation, every effort to find a suitable replacement will be made.

The disorder known as molybdenum cofactor deficiency (MoCD) Type A presents shortly after birth, often with severe encephalopathy and intractable seizures.

The FDA approved the first therapy for an ultra-rare genetic metabolic disorder that affects infants, who don’t normally live past the age of 4. 

The disorder is known as molybdenum cofactor deficiency (MoCD) Type A, which presents shortly after birth, often with severe encephalopathy and intractable seizures. 

The approval for the injection, fosdenopterin (Nulibry), was granted to BridgeBio Pharma and its affiliate, Origin Biosciences. 

A progressive disease, MoCD Type A affects fewer than 150 patients across the globe. It is characterized by an inability to produce cyclic pyranopterin monophosphate (cPMP). The injection replaces missing cPMP in treated patients. 

“Today’s action marks the first FDA approval for a therapy to treat this devastating disease,” Hylton V. Joffe, MD, MMSc, director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine in the FDA’s Center for Drug Evaluation and Research, said in a statement. “The FDA remains committed to facilitating the development and approval of safe and effective therapies for patients affected by rare diseases—an area of critical need.” 

BridgeBio’s Origin submitted a new drug application with the FDA for in December 2019. The FDA reviewed the injection under Priority Review, and the therapy received Orphan Drug Designation, Breakthrough Therapy Designation and Rare Pediatric Disease Designation. In addition, the agency issued a Rare Pediatric Disease Priority Review Voucher (PRV) to Origin. 

The FDA said efficacy was established in 13 patients administered fosdenopterin, compared with 19 matched, untreated patients. The therapy was linked with a survival rate of 84% at 3 years, compared with 55% among untreated patients. 

The most common side effects included complications related to the intravenous line, fever, respiratory infections, vomiting, gastroenteritis, and diarrhea. 

The companies said that treatment with fosdenopterin in 3 studies was also associated with a marked reduction in urine concentrations of S-sulfocysteine (SSC), a toxic substance that is associated with neurological damage in patients with MoCD Type A. The studies show that the reduction in SSC was sustained over 48 months with longterm use of fosdenopterin.