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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.
[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column][vc_column_text]For the full article please use the following link[/vc_column_text][/vc_column][/vc_row]
[vc_row][vc_column][vc_custom_heading text=”Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits” use_theme_fonts=”yes”][/vc_column][/vc_row][vc_row][vc_column][vc_column_text]CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase-like 5 (CDKL5). CDKL5 has been implicated in neuronal synapse maturation, yet its postdevelopmental necessity and the reversibility of CDD-associated impairments remain unknown. We temporally manipulated endogenous Cdkl5 expression in male mice and found that postdevelopmental loss of CDKL5 disrupts numerous behavioral domains, hippocampal circuit communication, and dendritic spine morphology, demonstrating an indispensable role for CDKL5 in the adult brain. Accordingly, restoration of Cdkl5 after the early stages of brain development using a conditional rescue mouse model ameliorated CDD-related behavioral impairments and aberrant NMDA receptor signaling. These findings highlight the requirement of CDKL5 beyond early development, underscore the potential for disease reversal in CDD, and suggest that a broad therapeutic time window exists for potential treatment of CDD-related deficits.
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[vc_row][vc_column][vc_custom_heading text=”Penn Study Suggests Genetic Disease CDKL5 Deficiency Disorder Could Be Treatable after Childhood” use_theme_fonts=”yes”][/vc_column][/vc_row][vc_row][vc_column][vc_column_text]
PHILADELPHIA— A devastating genetic disease called CDKL5 deficiency disorder (CDD), which strikes in early childhood, may be significantly treatable even in adulthood, a new study from the Perelman School of Medicine at the University of Pennsylvania suggests.
CDD is caused by the mutation of a gene called CDKL5, which is thought to play an important role in steering proper brain development during childhood. In the study, published today in theJournal of Clinical Investigation, researchers found compelling evidence that the gene is important in the brain even after childhood. When they switched off the gene in healthy adult mice, the mice developed severe neurological problems like those seen in mice that lack the gene from the start of life. The scientists then tried reinstating CDKL5 gene activity in young adult mice that had been deprived of it throughout early life, and found that the animals became mostly normal.
“One of the big questions for any genetic disease concerns the curability of the disorder and the extent of the time window in which a therapeutic approach, such as gene therapy, can help patients. Encouragingly, we found evidence from these mouse experiments that CDD is likely treatable, even after childhood,” said senior author Zhaolan “Joe” Zhou, PhD, a professor of Genetics at Penn.
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