LONDON--(BUSINESS WIRE)--The Loulou Foundation, a private foundation dedicated to the development of therapeutics for the neurodevelopmental condition CDKL5 Deficiency Disorder (CDD), announced today that seven biopharmaceutical industry partners together with the Loulou Foundation have formed a pre-competitive consortium to direct a key clinical study for the development of disease-modifying therapeutics for CDD. The seven companies are: Amicus Therapeutics [$FOLD]; Biogen Inc. [$BIIB]; Elaaj Bio; Marinus Pharmaceuticals Inc. [$MRNS]; PTC Therapeutics [$PTCT]; Ultragenyx Pharmaceutical Inc. [$RARE]; and Zogenix, Inc. [$ZGNX]. The seven partners will share the funding and governance of a three-year observational study with CDD patients, the Clinical Assessment of NeuroDevelopmental measures In CDD (CANDID) study. The Loulou Foundation will serve as the study coordinator, and the study will involve CDD clinical centers worldwide.
CDD is a genetic disorder whose symptoms include difficult-to-treat epilepsy and severe neurodevelopmental delay that affects patients' cognitive function, motor skills, and social interaction. With an incidence of one in 42,000 live births, CDD is one of the most common genetic pediatric epilepsies, affecting tens of thousands of patients worldwide. There are currently no approved treatments that address the disorder's neurodevelopmental symptoms. Most CDD patients require around-the-clock care and management of their complex symptoms.
Since 2016, the Loulou Foundation has partnered with the Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania (Penn) to create the CDKL5 Program of Excellence. Through pilot grants and directed research projects overseen by the Program of Excellence, the Loulou Foundation and the Orphan Disease Center have led the creation of key research tools and supported basic and clinical research to advance therapeutic development for CDD.
CANDID will investigate the baseline and longitudinal performance of known and validated instruments and scales, measuring cognitive, motor, and developmental domains in up to 100 CDD patients. The CANDID study was the subject of a Critical Path Innovation Meeting with the U.S. Food and Drug Administration in December of 2020. The study design incorporates input from the agency.
Xavier Liogier, Ph.D., Chief of Translational Science at the Loulou Foundation, remarked, "The instruments for the CANDID study were selected in collaboration with CDD clinicians, neuropsychologists, and patient families to be the most appropriate for this patient population across a broad range of ages and functional abilities. We believe that CANDID is a critical step in the evaluation of potential endpoints for future CDD clinical trials and the characterization of disease-specific developmental trajectories in CDD patients."
Several new treatment options are entering clinical development that researchers hope will control both the seizures and the neurodevelopmental deficits of CDD. CANDID will provide researchers with information on appropriate tests evaluating disease-modifying therapeutics for CDD, such as gene therapies, enzyme replacement, genome editing, or small molecules. CANDID study results will be eventually shared with the entire community to aid CDD clinical trial design and inform therapeutic development for related neurodevelopmental disorders.
"The CDD patient community fully supports this important effort by the Loulou Foundation and the industry consortium," said Mr. Antonino Caridi, Chair of the CDKL5 Alliance, an international organization of CDD patient family groups. "The CANDID study represents a transition from monitoring seizures to developing more comprehensive outcome measures that will reflect the impact of therapies targeting the underlying biology of CDD."
CDKL5 Deficiency Disorder (CDD) is a neurodevelopmental disorder caused by loss-of-function mutations in the CDKL5 gene, which encodes a kinase necessary for the proper function of neurons. CDD usually presents as seizures or infantile spasms within the first months of life, which later progresses to epilepsy. CDD patients display profound neurodevelopmental delay, particularly in cognitive, social, and motor function, and most CDD patients require constant care. With an incidence of approximately one in 42,000 live births, CDD is one of the most prevalent monogenic epilepsies, affecting tens of thousands of people worldwide. While some CDD patients can have partial control of their epilepsy with current anti-seizure medications, there are no approved treatments for the neurodevelopmental delay associated with CDD.
About the Loulou Foundation:
The Loulou Foundation is a private non-profit organization founded in 2015 to support the development of effective therapeutics and eventual cures for CDD. In 2016, the Loulou Foundation partnered with the Orphan Disease Center at the University of Pennsylvania’s Perelman School of Medicine to create the CDKL5 Program of Excellence within the Orphan Disease Center. Through this partnership, the Foundation funds grant and directed research programs to develop tools and resources to advance CDD therapeutic research. These programs include pre-clinical and clinical research into CDKL5 biology, CDD disease mechanisms, and proof-of-concept studies for gene therapy and genome modifying therapeutics.
About the CDKL5 Alliance:
The CDKL5 Alliance is an international organization that serves to unite and align the community of national and regional CDD patient family groups worldwide. Founded in 2017, the CDKL5 Alliance provides coordination and communication to its nearly twenty member organizations and support to fledgling CDD patient family groups as they start to organize themselves. More information on the CDKL5 Alliance can be found at www.CDKL5Alliance.org.
University of Pennsylvania Financial Disclosure:
Penn has previously licensed certain CDD technologies to some of the industry members of the pre-competitive consortium.