CDKL5 Deficiency Disorder Voice of the Patient Report Submitted to FDA
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.
This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200617005017/en/
The report is the outcome of a groundbreaking patient-centered meeting hosted in November 2019 as part of the FDA Patient Focused Drug Development initiative. The initiative was established by FDA to more systematically gather patients’ perspectives about their condition and available therapies. The meeting was attended by FDA representatives from CDER, CBER and the Office or Orphan Products among others.
Although there are more than 10,000 diseases, only a few dozen have been the subject of PFDD meetings. This includes CDKL5 Deficiency Disorder (CDD), a rare genetic disease that leads to frequent seizures shortly after birth and severe impairment in neurological development, with most affected people being unable to walk, talk or care for themselves.
The majority of the responders during the live meeting poll and post-meeting survey reported global developmental delay as the most devastating aspect of the disease. “In the beginning, all I wanted to do was stop the seizure,” explained Karen Utley, President of IFCR and mother to a 13-year old daughter with CDD. “However, as my daughter grew, it became crystal clear that this disorder is not simply an epilepsy. Accepting the reality of the situation and understanding that short of a treatment and a cure, your child will not develop into an independent adult, is a crushing blow.”
There is currently no therapy approved for the treatment of CDD, but there are several programs in clinical development and a growing interest from the drug development industry. “Celebrating this PFDD meeting was a big milestone for our field and one more step towards having approved and hopefully disease-modifying treatments,” said Ana Mingorance PhD, Chief Development Officer of the Loulou Foundation. “The timing was particularly important because there are four ongoing clinical trials as well as additional active preclinical programs that we hope will reach the clinic in the coming few years.”
The meeting and the report emphasize the urgent need for increased awareness of CDD, as well as the inadequacy of current treatments and lack of therapeutic options for the refractory seizures, global developmental delay and additional comorbidities associated with the disorder. By capturing the outcomes of this dialogue, the Voice of the patient Report will serve as a lasting resource for regulators, life science companies, researchers, the patient community, and the public.
CDD was also recently designated with a new disease code in the International Classification of Diseases (ICD), the medical classification list from the World Health Organization (WHO). These critical milestones serve as a testament to the power of patient advocacy groups working together toward shared goals of the CDD community. Both the PFDD meeting and the approval of a new ICD-10 code are the culmination of over a year of planning and collaboration by the groups that hosted the meeting.
The IFCR and Loulou Foundation are grateful to all meeting participants in person and via webcast, including the caregivers representing CDD symptoms, the physicians and scientific experts who participated, and the FDA for their support. They are also grateful to the caregivers that contributed to the post-meeting survey.
To read the report and learn more about the CDD EL-PFDD meeting, including a recording of the entire session, visit www.cdkl5.com/pfdd
CDKL5 Deficiency Disorder (CDD) is a rare developmental and epileptic encephalopathy resulting from loss-of-function mutations in the CDKL5 gene. Presenting first as infantile spasms within the first weeks of life which progresses to intractable epilepsy, CDD patients also display profound neurodevelopmental delay, with generalized hypotonia, impaired motor skills, and severely impaired speech and vision. CDD patients also have impaired sleep, gastrointestinal function, and respiratory issues. With an incidence of approximately 1 in 40,000 live births, CDD is one of the most common monogenic pediatric epilepsies, with several thousand patients estimated in the US and Europe alone. No therapies exist to treat the neurodevelopmental symptoms of CDD, and the epilepsy associated with CDD is poorly managed by current anti-seizure medications.
About Loulou Foundation
Loulou Foundation is a private, non-profit foundation dedicated to therapeutic development for CDD. Founded in 2015, Loulou Foundation drives pre-clinical, translational, and clinical research on transformative therapeutics for CDD, with the goal of delivering meaningful treatments and eventual cures for CDD to patients and their families.
About International Foundation for CDKL5 Research (IFCR)
IFCR is a US-based patient advocacy organization founded in 2009 by families from around the world affected by CDD. Since then, IFCR has funded groundbreaking research, including animal and cell model generation, patient-driven natural history, and a multidisciplinary clinical research network. Pioneering this network of CDKL5 Centers of Excellence across the United States has facilitated the development of a clinical research model that demands high-quality patient care, while accelerating clinical trial readiness. Above all, IFCR supports all CDKL5 families and caregivers by providing education, advocacy, and awareness.
Daniel Lavery, PhD
Chief Scientific Officer, Loulou Foundation
Director, CDKL5 Program of Excellence, Orphan Disease Center
Perelman School of Medicine
University of Pennsylvania
T: +1 (215) 746-6725
About Business Wire
For more than 50 years, Business Wire has been the global leader in press release distribution and regulatory disclosure.
Subscribe to releases from Business Wire
Subscribe to all the latest releases from Business Wire by registering your e-mail address below. You can unsubscribe at any time.
Latest releases from Business Wire
Takeda Provides Updates on Its Pharmacokinetic-guided Prophylaxis Studies at ISTH 2020, Reinforcing Its Commitment to Advancing Personalized Care for People with Bleeding Disorders12.7.2020 15:30:00 EEST | Press release
Takeda Pharmaceutical Company Limited (“Takeda”) (TSE: 4502/NYSE:TAK) today announced that 13 abstracts are being presented from the company’s Hematology portfolio and pipeline at the International Society on Thrombosis and Haemostasis 2020 Virtual Congress (ISTH 2020). Among the data, Takeda spotlighted four abstracts to highlight its commitment to advancing personalized care through pharmacokinetic (PK)-guided prophylaxis in people living with hemophilia or von Willebrand Disease (VWD) – including scientific updates in patients with hemophilia A from the Phase 3 PROPEL and Phase 3b CONTINUATION studies investigating potential benefits of personalized TAK-660 (rurioctocog alfa pegol) prophylaxis. Two population studies into the PK/pharmacodynamic (PD) profiles of recombinant von Willebrand factor (rVWF), which provide data to assist in the optimization of rVWF personalized dosing strategies, were also presented. Takeda addresses the unique needs of each patient with personalized care
VR Fitness Developer FitXR Secures $7.5 Million In Series A Venture Round Led by Hiro Capital10.7.2020 09:00:00 EEST | Press release
FitXR, the leading VR fitness company, today announces that it has secured $6.3m in investment funding, led by Hiro Capital, with continued support from U.S.-based BoostVC, Maveron and TenOneTen Ventures, together with an additional $1.2m in the form of an innovation loan, from Innovate UK. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200709005856/en/ Cherry Freeman, Co-Founding Partner, Hiro Capital (Photo: Business Wire) FitXR, who had previously secured $1.25 million in seed funding from investors, will use the new investment to expand its operations in Europe and North America, and to accelerate launch of several exciting new products and services for people to keep fit in Virtual Reality. The investment marks a significant show of belief in FitXR, who over the last year has grown to become one of the leaders of the VR fitness sector, with its mission to put the fun back into fitness. Its first product, the boxing rhyt
Laboratory Studies Confirm BETADINE® Antiseptic Products’ Effectiveness Against COVID-19 Virus10.7.2020 01:37:00 EEST | Press release
Mundipharma today announced that laboratory testing at the Duke-NUS Medical School in Singapore, has confirmed the effectiveness of its BETADINE® antiseptic products against the novel coronavirus (SARS-CoV-2) which causes COVID-19 disease. Testing has demonstrated BETADINE’s® strong in-vitro virucidal activity, killing 99.99% of the SARS-CoV-2 virus in 30 seconds. The products subjected to testing were: BETADINE® antiseptic products, namely Solution (10% PVP-I), Skin Cleanser (7.5% PVP-I), Gargle and Mouthwash (1.0% PVP-I) and Throat Spray (0.45% PVP-I). The research has been published in the respected Infectious Disease and Therapy Journal on 08 July 2020. “These results confirm our view that BETADINE® antiseptic products, used appropriately and in conjunction with other preventative treatment options including PPE, can play a role in limiting the spread of infections, including COVID-19,” said Raman Singh, CEO Mundipharma. “It also provides the medical community as well as consumers
New Evidence Shows Morinaga Milk’s Probiotic Bifidobacterium breve A1 Improves Memory of Older Adults With Cognitive Dysfunction9.7.2020 21:00:00 EEST | Press release
Morinaga Milk Industry Co., Ltd. (TOKYO:2264), a leading Japanese dairy product company and a key global probiotics manufacturer, confirmed that its proprietary probiotic strain Bifidobacterium breve A1 (a.k.a. B. breve MCC1274) is safe and effective for improving memory functions of older adults with suspected mild cognitive impairment (MCI) in a randomized, double-blind, placebo-controlled trial (RCT). This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200709005032/en/ Figure 1. Changes of RBANS scores at 16 weeks from baseline. Values are indicated as mean with error bars as the standard error. **p<0.001, ***p<0.0001, inter-group difference, Student’s t-test. (Graphic: Business Wire) The new study, published recently in the Journal of Alzheimer’s Disease, has produced breakthrough results uncovering a novel promising probiotic intervention for early dementia prevention. The clinical study conducted by a clinical research orga
rf IDEAS and Ricoh Simplify Secure Access to Multifunction Printers9.7.2020 19:05:00 EEST | Press release
rf IDEAS, a leading manufacturer of credential readers for authentication and logical access, today announced with Ricoh the integration of its WAVE ID® Plus dual-frequency card reader technology with Ricoh’s Smart Operation Panel (SOP), Gen 2.5. The new WAVE ID Ricoh Universal SOP Reader is the most innovative reader for secure pull-print applications with Ricoh multifunction printers. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200709005764/en/ WAVE ID® Ricoh Universal SOP Reader (Photo: Business Wire) rf IDEAS and Ricoh have a proven record of working together to deliver secure workplace solutions that feature the most advanced identification and authentication capabilities. “As we continue our worldwide partnership with a leader in the print industry, we are delighted that Ricoh chose rf IDEAS to develop an innovative credential reader design that connects to its A3 multifunction devices,” said Tod Besse, senior vice
Immersive Labs Adds Tenable Co-Founder and Security Industry Veteran Jack Huffard to its Board of Directors as Demand for Improving and Measuring Cyber Talent Grows9.7.2020 18:46:00 EEST | Press release
Immersive Labs, the company empowering organizations to equip, exercise, and evidence human cyber capabilities, announced Jack Huffard, a co-founder and board member of Tenable (Nasdaq: TENB) will join its board of directors to help drive growth. This comes on the heels of Immersive Labs’ recent expansion into the U.S. market, backed by Goldman Sachs and Summit Partners with $50M in financing, after four successful years of fast-growth and an impressive customer roster in the UK and the U.S. With the addition of Huffard to the board, a cybersecurity industry business leader who helped Tenable through its fast growth and successful IPO, the Immersive Labs team is well-suited for its next phase of innovation and market leadership. Huffard also currently serves as a board director for Norfolk Southern Corporation (NYSE: NSC) and is a member of the National Security Telecommunications Advisory Committee (NSTAC), helping the US government navigate pressing national security issues and stren
In our pressroom you can read all our latest releases, find our press contacts, images, documents and other relevant information about us.Visit our pressroom