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
About CDD
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.
www.louloufoundation.org
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.
www.cdkl5.com
To view this piece of content from cts.businesswire.com, please give your consent at the top of this page.
View source version on businesswire.com: https://www.businesswire.com/news/home/20200617005017/en/
Contact information
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
E: dlavery@louloufoundation.org
www.louloufoundation.org
Karen Utley, BSN
Co-Founder and President
International Foundation for CDKL5 Research (IFCR)
E: kutley@cdkl5.com
www.cdkl5.com
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
SCENTMATIC's AI "KAORIUM" Debuts at THAMEEN Fragrance Launch in London's Selfridges4.7.2025 12:13:00 EEST | Press release
SCENTMATIC Inc., a leader in scent digitalization, introduced its AI-powered scent-to-language system, KAORIUM, at the THAMEEN Fragrance new product launch event. This pivotal event took place from June 5 to 11, 2025, at Selfridges department store in London, UK. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20250703662207/en/ State of exhibition Global Expansion: KAORIUM Establishes UK Presence Europe leads the global fragrance market, with the UK projected to reach US$2.82 billion by 2033. Recognizing this, SCENTMATIC is rapidly expanding its international footprint. In May 2024, SCENTMATIC established its overseas subsidiary, KAORIUM, in London, appointing industry expert Ben Yanoushek as CEO. Official UK operations commenced on February 1, 2025, with the launch of its dedicated website: www.kaorium.com. KAORIUM Trialed at "Florentine Diamond" Launch Event The "Florentine Diamond" launch event for luxury brand THAMEEN Frag
Global Tourism Surging Ahead of Economic Growth, With Visits to Hit 30 Billion by 20344.7.2025 02:00:00 EEST | Press release
The World Economic Forum has today published a new report forecasting that the travel and tourism industry is projected to serve 30 billion tourist trips by 2034. Travel and Tourism at a Turning Point: Principles for Transformative Growth, produced in collaboration with Kearney and the Ministry of Tourism Saudi Arabia, reveals a projected $16 trillion contribution to global GDP by the same year—representing more than 11% of the total world economy, according to World Travel & Tourism Council estimates. The report also found that the sector is expanding 1.5 times faster than the global economy, generating significant commercial opportunities as long as the mounting challenges of climate change, labour shortages and infrastructure gaps are addressed. Inbound and outbound trips increasing fast Asia is on track to become the world’s fastest-growing tourism economy, with the direct travel and tourism GDP contribution expected to exceed 7% across the region by 2034. Notably, India and China
The 2025-2026 World Branding Awards Animalis Edition Honouring Leading Pet and Animal Brands Globally3.7.2025 22:00:00 EEST | Press release
The 2025-2026 World Branding Awards Animalis Edition marked its fifth instalment, bringing together leading pet and animal brands from all around the world. These brands were celebrated for their outstanding achievements, earning recognition as National, Regional, and Global Winners. The awards ceremony, held at Vienna's prestigious Hofburg Palace, welcomed winners across diverse categories, including pet food, retail, wellness, pet exhibitions, and aquatic products. Mounia Berrada-Gouzi expertly hosted the evening, which culminated in a grand celebration of brand excellence. “The Animalis Edition of the World Branding Awards recognises brands that have achieved the highest distinction—genuine recognition in the hearts and minds of consumers. Tonight, we honour those whose names resonate globally, whose values inspire loyalty, and whose presence defines excellence in the pet and animal industry,” said Richard Rowles, Chairman of the World Branding Forum. Out of over 950 brands nominate
Venture Global Announces 20-Year Sales and Purchase Agreement with PETRONAS3.7.2025 15:59:00 EEST | Press release
Today, Venture Global, Inc. (NYSE: VG) announced the execution of a new 20-year Sales and Purchase Agreement (SPA) with PETRONAS LNG Ltd. (PLL), a subsidiary of the Malaysian state-owned oil and gas company, PETRONAS. Under the terms of the SPA, PETRONAS will purchase 1 million tonnes per annum (MTPA) of liquefied natural gas (LNG) from Venture Global’s third facility, CP2 LNG, for 20 years. This builds upon Venture Global’s existing agreement with PETRONAS for 1 MTPA of LNG supply from Plaquemines LNG. PETRONAS, a world-class partner in the LNG industry, joins other CP2 LNG customers in Europe, Asia and the rest of the world in a strategically important project to global energy supply and security. To date, approximately 10.75 MTPA of the 14.4 MTPA nameplate capacity for CP2 Phase One has been sold. About Venture Global Venture Global is a long-term, low-cost provider of U.S. LNG sourced from resource rich North American natural gas basins. Venture Global’s business includes assets ac
Frost & Sullivan Recognizes Novotech as 2025 Global Biotech CRO Company of the Year3.7.2025 15:05:00 EEST | Press release
In recognition of its innovation, client-focused delivery, and global impact, Novotech has been awarded the 2025 Global Biotechnology Contract Research Organization (CRO) Company of the Year by Frost & Sullivan. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20250703950144/en/ Novotech Wins Global CRO Award Novotech is a globally recognized full-service clinical CRO and scientific advisory firm, trusted by biotech and small- to mid-sized pharmaceutical companies to advance their drug development programs at every phase. With a global footprint spanning Asia-Pacific, North America, and Europe, Novotech supports over 5,000 clinical trial sites and a distributed team of experts delivering seamless, end-to-end solutions across geographies. “Novotech is redefining biotech-focused clinical research through AI-driven innovation, global expansion, and a client-embedded partnership model. With a clear vision to be the CRO of choice for
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