Program of Excellence created to develop treatments for rare genetic disorder CDKL5

A Program of Excellence has been established to develop treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures.

The LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established the Program. London-based LouLou Foundation will provide a 3-year renewable umbrella grant to fund all aspects of the program in order to help identify and fill gaps in basic research needed to develop medications and treatments for the disease, promote collaboration among CDKL5 investigators at other leading institutions worldwide, and engage with the biopharma industry.

There are more than 1,200 documented cases of CDKL5 worldwide, with the number of identified patients increasing as genetic testing for the disorder becomes more common. CDKL5 stands for cyclin-dependent kinase-like 5, a protein whose gene is located on the X chromosome. The CDKL5 gene provides instructions for making a protein that is essential in forming the connections for normal brain development, with mutations causing a deficiency in the protein level.

Most children affected by CDKL5 – about 90% of whom are girls – suffer from seizures that begin in the first few months of life. Most cannot walk, talk, or feed themselves, and many are confined to wheelchairs. Many also suffer with scoliosis, visual impairment, sensory problems and gastrointestinal difficulties.

CDKL5 mutations have been found in children diagnosed with cerebral palsy and autism, among other conditions, and the disorder was previously classified as an early seizure variant of Rett Syndrome.

The grant program will welcome applications from academic labs and companies around the world and will be managed by a program director. The size of the umbrella grant will depend on the number of applications ultimately awarded, but the partners are confident that the resources committed upfront by the LouLou Foundation, in combination with Penn’s ongoing investment in orphan disease research, will make a substantial positive impact on tackling CDKL5.

“We are extremely grateful to LouLou Foundation for this grant,” said James M. Wilson, MD, PhD, director of the Orphan Disease Center and a professor of Medicine. “The marketplace provides few incentives for private-sector support of urgently needed research for orphan diseases such as CDKL5. This program will promote cooperation and synergies with other leading academic medical centres and public and private institutions, all aimed at bringing the fruits of innovative research into the clinic as rapidly as possible.”

A spokesperson for the LouLou Foundation added: “Penn Medicine’s Orphan Disease Center has quickly established itself as an international leader in promoting effective partnerships to make inroads against orphan diseases through its unique model to fund the best science objectively and wherever it may be. We are delighted to begin this exciting collaboration with the center on behalf of all the children and families affected by this devastating disease.”

LDT Editor

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