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We asked Marinus to tell us more about their new Expanded Access Program (EAP) for ganaxolone.

Last year at this time we were contemplating the promise that a new year brings and to say 2020 presented obstacles we couldn’t anticipate is redundant, yet we found the silver lining in opportunities lost to regroup and refocus on our mission. This year we find ourselves contemplating our future in a much different light, asking propelling questions and making tough decisions. Given the constraints that most rare disease communities face, how can we best use limited resources? How can we partner with others to realize timely progress? How can newfound opportunities in telemedicine and video-based applications afford new potential directions for rare disease communities to connect or share data with scientists?

Reflecting on past years, it is remarkable how fast science is moving. Genetic therapies are under early development for CDKL5 Deficiency Disorder. We must prepare for any future we are afforded to trial disease-modifying treatments. To be ready for clinical trials…

“This NIH Funding Opportunity Announcement (FOA) invites researchers to submit applications for support of clinical studies that address critical needs for clinical trial readiness in rare neurological and neuromuscular diseases. These studies should result in clinically validated biomarkers and clinical outcome assessment measures appropriate for use in upcoming clinical trials. Through the support of trial readiness studies, NINDS and NCATS expect to enhance the quality and increase the likelihood of success of clinical trials in these rare diseases.”

The Co-Directors of the International CDKL5 Disorder Database (ICDD)- a rich natural history database collecting parent-reported and genetic data and the Directors of the eight IFCR-funded CDKL5 Centers of Excellence (COEs) – a network of clinics throughout the USA that specialize in the care of patients with CDKL5 Deficiency Disorder (CDD) actively participate in a collaborative research infrastructure, the International CDKL5 Clinical Research Network (ICCRN). This network was initiated through IFCR funding. The ICCRN seeks to answer clinically significant questions to drive improvements in the clinical care of patients with CDD. To date, IFCR support has led to 12 publications since 2017 fostered by this collaboration. Disease-modifying therapies are currently in development for CDD patients, but a mission-critical step remains unfilled prior to the FDA-approved initiation of clinical trials.

There are no measures validated for CDD and the severity of this condition renders those outcome measures that exist unsuitable.

Understanding the patient voice is fundamental for therapy development. Companies need to ensure that what matters most to patients is being assessed, and regulators and payers asks for demonstration of value to support approval and reimbursement. Today, the Loulou Foundation and the International Foundation for CDKL5 Research (IFCR) are proud to release the “CDKL5 Deficiency Disorder Voice of the Patient Report”, capturing the voice of patients living with this rare genetic disease that affects thousands of people.

The report is the outcome of a groundbreaking patient-centered meeting …

*RDMD is now Allstripes

You can accelerate drug development in CDKL5 (CDKL5 deficiency disorder)