Announcements

8 Aug 2017

FDA Grants Orphan Drug Designation for Ganaxolone in CDKL5 Disorder

RADNOR, Pa., June 29, 2017 (GLOBE NEWSWIRE) — Marinus Pharmaceuticals, Inc. (Nasdaq:MRNS), a biopharmaceutical company dedicated to the development of innovative therapeutics to treat epilepsy and neuropsychiatric disorders, today announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation to ganaxolone for the treatment of CDKL5 Disorder. Ganaxolone is currently being evaluated in children with CDKL5 Disorder in a Phase 2 clinical trial.

“CDKL5 Disorder is a severe, rare genetic disorder that affects children at an early age and causes difficult-to-control seizures and neuro-developmental impairment,” remarked Christopher M. Cashman, Chief Executive Officer of Marinus Pharmaceuticals. “There are no approved therapies for children with CDKL5 Disorder, and a great need for new treatment options that can control both the seizures and co-morbidities of the disease to improve the quality of life for the child and their family.  We are pleased to receive Orphan Drug Designation for ganaxolone in CDKL5 Disorder and look forward to presenting the data from our ongoing Phase 2 trial in the upcoming months.”

Orphan Drug Designation is granted by the FDA Office of Orphan Products Development to novel drugs or biologics that treat a rare disease or condition affecting fewer than 200,000 patients in the U.S. The designation provides the drug developer with a seven-year period of U.S. marketing exclusivity, as well as tax credits for clinical research costs, the ability to apply for annual grant funding, clinical research trial design assistance and waiver of Prescription Drug User Fee Act (PDUFA) filing fees.

About CDKL5 Disorder

CDKL5 Disorder is a serious and rare genetic disorder that is caused by a mutation of the cyclin-dependent kinase-like 5 (CDKL5) gene, located on the X chromosome. It predominantly affects girls and is characterized by early-onset, difficult-to-control seizures and severe neuro‑developmental impairment. The CDKL5 gene encodes a protein essential for normal brain function.  Most children affected by CDKL5 cannot walk, talk, or care for themselves. Many also suffer from scoliosis, visual impairment, gastrointestinal difficulties, and sleeping disorders. Currently, there are no approved therapies for CDKL5 Disorder.

About Ganaxolone

Ganaxolone, a positive allosteric modulator of GABAA, is being developed in three different dose forms (intravenous, capsule, and liquid) intended to maximize therapeutic reach to adult and pediatric patient populations in both acute and chronic care settings. Unlike benzodiazepines, ganaxolone exhibits anti-seizure and anti-anxiety activity via its effects on synaptic and extrasynaptic GABAA receptors.  Ganaxolone has been studied in more than 1,500 subjects, both pediatric and adult, at therapeutically relevant dose levels and treatment regimens for up to two years. In these studies, ganaxolone was generally safe and well-tolerated. The most commonly reported adverse events were somnolence, dizziness and fatigue.

About Marinus Pharmaceuticals

Marinus Pharmaceuticals, Inc. is a biopharmaceutical company dedicated to the development of ganaxolone, which offers a new mechanism of action, demonstrated efficacy and safety, and convenient dosing to improve the lives of patients suffering from epilepsy and neuropsychiatric disorders. Ganaxolone is a positive allosteric modulator of GABAA that acts on a well-characterized target in the brain known to have both anti-seizure and anti-anxiety effects. Ganaxolone is being developed in three different dose forms (IV, capsule and liquid) intended to maximize therapeutic reach to adult and pediatric patient populations in both acute and chronic care settings. Marinus is currently evaluating ganaxolone in women with PPD and in orphan pediatric indications for the treatment of genetic seizure and behavior disorders, and preparing to initiate Phase 2 studies in status epilepticus, an orphan indication. For more information visit http://www.marinuspharma.com. Please follow us on Twitter: @MarinusPharma.

http://ir.marinuspharma.com/releasedetail.cfm?releaseid=1031834

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5 May 2017

CDKL5 Pilot Grant Programme Awardees 2017

Loulou Foundation (LLF) is pleased to announce the ten successful Awardees of its 2017 Pilot Grant Program through the CDKL5 Programme of Excellence (PoE) at the Orphan Disease Center (ODC) of the University of Pennsylvania:

Timothy Benke, MD, PhD
University of Colorado
"Mechanisms and treatment of paradoxical hyperexcitability in CDKL5 Deficiency Syndrome"

Elisabetta Ciani, PhD
University of Bologna
"Innovative Strategy to Enhance the Efficiency of Gene Therapy for CDKL5 Disorder"

Vera Kalscheuer, PhD
Max Planck Institute for Molecular Genetics
"Novel CDKL5 complex partners and kinase substrate candidates"

Charlotte Kilstrup-Nielsen, PhD
University of Insurbia
"Therapeutic potential of pregnenolone and its synthetic non-metabolized derivative for CDKL5 disorder"

Alysson Muotri, PhD
University of California San Diego
"CDKL5 Syndrome cortical organoids for drug testing and reversibility potential"

Tommaso Pizzorusso, PhD
Institute of Neuroscience, CNR
"Rescuing CDKL5 mice phenotype by targeting developmental critical period mechanisms"

David Rowitch, MD, PhD
University of Cambridge
"Understanding CDKL5 Expression Pattern by RNAScope in Developing Mouse and Human Glia"

W Andy Tao, PhD
Purdue University
"Identification of CDKL5 direct substrates based on kinase assay linked phosphoproteomics"

Sila Ultanir, PhD
The Francis Crick Institute
"Development of biomarkers for CDKL5 activity"

Robert Wilson, MD, PhD
University of Pennsylvania and the Children's Hospital of Philadelphia
"Therapeutic drug discovery for CDKL5 deficiency using random shRNA selection"

Loulou Foundation would like to thank all those who applied to the programme, which led to a high quality of proposals.

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22 March 2017

Loulou Foundation joins IRDiRC as new member

The Loulou Foundation, a private, non-profit UK foundation dedicated to advancing research into the understanding and development of therapeutics for CDKL5 deficiency disorder, has joined International Rare Diseases Research Consortium (IRDiRC) as new funding agency. Next to funding research, the Loulou Foundation places a high priority on partnering with the biopharma industry.

The International Rare Diseases Research Consortium (IRDiRC) brings together members that share common goals and principles and have agreed to work in a collaborative manner within a multinational consortium. IRDiRC teams up researchers and organizations investing in rare diseases research to achieve two main objectives by the year 2020, namely to deliver 200 new therapies for rare diseases and the means to diagnose most rare diseases.

Members are:

  • Funding organizations spending more than 10 million USD over 5 years in research projects contributing to IRDiRC objectives
  • Government, academia, industry and patient organizations

Read More

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7 March 2017

NYU Langone Medical Center's 2017 FACES Gala honors Loulou Foundation Co-Founders, and raises $4.7 Million To Support Epilepsy Research

NEW YORK, March 7, 2017 /PRNewswire/ -On the evening of March 6, 2017, more than 700 guests attended NYU Langone Medical Center's annual Finding A Cure for Epilepsy and Seizures (FACES) Gala, held at Pier Sixty at Manhattan's Chelsea Piers. Nearly $5 million was raised at the event to support epilepsy research and the advancement of new therapies at NYU Langone. Hosting the event was David Remnick, editor of The New Yorker, who served as the evening's emcee.

Donna Emma and Lawrence Davis chaired this year's gala in recognition of Orrin Devinsky, MD, professor of neurology, neurosurgery, and psychiatry, founder of FACES, and director of NYU Langone's Comprehensive Epilepsy Center.

2017 FACES Gala honorees Lynn and Majid Jafar with FACES founder and director of the NYU Langone Comprehensive Epilepsy Center, Dr. Orrin Devinsky. Courtesy of Josh Wong Photography.

"The FACES Gala is the world's largest fundraiser to advance epilepsy research and care," said Dr. Devinsky. "The funds raised have supported an unprecedented number of basic and clinical science collaborations that have contributed to the discovery of new epilepsy genes and new epilepsy therapies." He thanked all in attendance, noting that since 1995 FACES has supported hundreds of research initiatives that have led to important changes in the field.

Proceeds from FACES events are used to support several patient and educational programs, as well as a diverse range of research projects including new drug development, the genetics of epilepsy, sudden unexplained death in epilepsy, and many more.

Also of note was the annual live auction conducted by C. Hugh Hildesley, vice chairman at Sotheby's America. Popular prizes included a 7-night stay for 2 in Italy, tickets to the 2017 Billboard Music Awards, an exclusive 20-course, in-home dinner with famed chef Daisuke Nakazawa, and tickets to the 2017 Grammy Awards.

Majid Jafar, CEO of Crescent Petroleum, and his wife Lynn Jafar were honored for their research efforts towards finding a cure for a rare genetic disorder called CDKL5, as well as better treatments for children who have epileptic seizures and other chronic conditions. As co-founders of the Loulou Foundation, they have supported the important research of over 60 scientists at leading universities in the United States and Europe, with a total of 14 separate projects in 25 labs at 20 different institutions to date.

Special guests in attendance included Ellen Block, Susie Block Casdin, Katie and Todd Boehly, Ulrika and Joel Citron, auction co-chairs Melissa and Josh Fluhr, Loretta Glucksman, Trudy Elbaum Gottesman and Bob Gottesman, Jackie Harris, Bill Lambert, Sukey and Michael Novogratz, Colleen Olson, Kate Picco, Angela and Matt Stone, and FACES Gala underwriters Leah and Michael Weisberg.

About NYU Langone Medical Center

NYU Langone Medical Center, a world-class, patient-centered, integrated academic medical center, is one of the nation's premier centers for excellence in clinical care, biomedical research, and medical education. Located in the heart of Manhattan, NYU Langone is composed of four hospitals—Tisch Hospital, its flagship acute care facility; Rusk Rehabilitation; the Hospital for Joint Diseases, the Medical Center's dedicated inpatient orthopaedic hospital; and Hassenfeld Children's Hospital, a comprehensive pediatric hospital supporting a full array of children's health services across the Medical Center. Also part of NYU Langone is NYU School of Medicine, which since 1841 has trained thousands of physicians and scientists who have helped to shape the course of medical history, and the Laura and Isaac Perlmutter Cancer Center, a National Cancer Institute–designated cancer center. The Medical Center's tri-fold mission to serve, teach, and discover is achieved 365 days a year through the seamless integration of a culture devoted to excellence in patient care, education, and research. For more information, go to www.NYULangone.org, and interact with us on Facebook, Twitter, YouTube, Instagram, and Google+.

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23 February 2017

Announcement: 2017 CDKL5 Pilot Grant Programme - Request for Application

2017 CDKL5 Pilot Grant Programme (23 February 2017)

Loulou Foundation (LLF) is pleased to announce the Request for Application (RFA) for its 2017 Pilot Grant Program for CDKL5 Deficiency through its partnership with the Orphan Disease Center (ODC) at the University of Pennsylvania. Grants funded by LLF will be provided through the CDKL5 Programme of Excellence (PoE) at the ODC for one-year each and for US$150,000.00 (One hundred and fifty thousand dollars) total cost to support research as defined by the PoE priorities.

All applicants must first submit a letter of Interest (LOI) to be reviewed for consideration of a full application submission. LOIs must be received by Thursday, 9th March, 2017 at 5pm (US-Eastern Standard Time), and can be uploaded via this form, or also found on this website. Please find this link for full application guidelines including the LLF Foundation Patent Policy.

We are seeking grant applications that progress the discovery or development of treatments or cures for CDKL5 Deficiency. We recognize, however, that many gaps exist in the basic understanding of CDKL5 and its role in neurologic development. Therefore basic science projects that address these gaps are welcome as long as they are tethered to the development of a potential therapy. While the RFA is broad in scope, priority will be given to grants that cover the following areas:

  1. Development of translational biomarkers in humans and animal models of CDKL5 Deficiency.
  2. Advanced understanding of CDKL5 function or disease pathophysiology to enable therapeutic development (Suggestions: Identification of kinase substrates and CDKL5 pathways; X-inactivation and skewing in the context of CDKL5 mutations; CDKL5 pathogenesis to determine if cell-autonomous or circuit level dysfunction; determine the level of upregulation necessary to achieve therapeutic benefit).
  3. Identification of therapeutic small and large-molecules for the treatment of CDKL5 Deficiency, including: development of cellular assays for compound screening; identification of genetic modifiers.
  4. Novel therapeutic approaches for CDKL5 Deficiency, including small molecules, biologics, molecular therapies, etc.
  5. Development of animal models or reporter assays and their use in defining pathogenesis and evaluating novel therapeutics. The goal of disease model development should be to enable translational research by the investigator, as well as the broader community. For this type of proposal, please include a plan for sharing and a statement of timelines for sharing the established model.

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26 January 2017

Loulou Foundation announces the CDKL5 Forum Junior Fellowships scheme

Announcement of Junior Fellowships (26 January 2017)

As mentioned at the annual meeting of the CDKL5 Forum held earlier this month at the Wellcome Trust in London, the Loulou Foundation is pleased to announce the CDKL5 Forum Junior Fellowships scheme.

Five fellowships with an award of US$ 10,000 (ten thousand US dollars) will be granted this year to young investigators at doctoral or post-doctoral level who are active in labs working on CDKL5 Deficiency. The award funds will go to the lab of the winners and must be used to directly further the research into CDKL5 Deficiency with no deductions permitted for indirect costs, as per the policy set by the Trustees of the Loulou Foundation.

Nominations will be accepted from now until the end of 2016 from the principal investigators of the labs where the candidate is a member, in the form of a one to two page letter outlining the candidate’s eligibility based on three criteria: 1) work ethic, 2) track record of research, and 3) commitment to CDKL5 Deficiency. The fellowship awardees will be announced in January 2017.

Please send all nominations or questions by e-mail to: nominations@cdkl5forum.org

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6 July 2016

Amicus Therapeutics Expands Biologics Pipeline with New Preclinical Program for Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Potential First-in-Class Protein Replacement Therapy for Devastating Rare Genetic Neurological Disorder with No Approved Treatments

Potential First-in-Class Protein Replacement Therapy for Devastating Rare Genetic Neurological Disorder with No Approved Treatments

CRANBURY, N.J., July 06, 2016 (GLOBE NEWSWIRE) -- Amicus Therapeutics, Inc. (Nasdaq:FOLD), a biotechnology company at the forefront of rare and orphan diseases, has expanded its biologics pipeline with a new preclinical program for cyclin-dependent kinase-like 5 (CDKL5) deficiency, a rare and devastating genetic neurological disease for which there is no currently approved treatment. Signs and symptoms typically begin with persistent, spontaneous seizures in infancy followed by severe delays in neurological development.

"The CDKL5 program fits perfectly with our vision to build a leading global biotechnology company focused on rare and devastating diseases," stated John F. Crowley, Chairman and Chief Executive Officer of Amicus. "While we remain sharply focused on the Galafold™ launch and advancing our core clinical programs in Pompe and Epidermolysis Bullosa, this CDKL5 program is an important investment in our stated strategy to expand our biologics pipeline by integrating new, innovative technologies to develop first- and best-in-class therapies for patients who are in desperate need of new treatments. CDKL5 is a rare and devastating disease with no approved treatment. Most children with CDKL5 have frequent seizures that begin shortly after birth. They experience severe impairment in neurological development, and many of them are unable to walk, talk or care for themselves. We are pleased to partner with the CDKL5 patient and medical community to elevate disease awareness as we advance towards a treatment."

Amicus has obtained the rights and related intellectual property to a preclinical CDKL5 program through the acquisition of MiaMed, Inc. Under the terms of the acquisition agreement with MiaMed, at closing, Amicus paid approximately $1.8 million in cash and approximately $4.7 million in Amicus common stock to the former shareholders of MiaMed. In addition, the former shareholders of MiaMed are eligible to receive up to $18 million upon the achievement of clinical and regulatory milestones and up to $65 million upon achievement of commercial milestones. The acquisition of MiaMed does not impact previous full-year 2016 net cash spend guidance of $135 million to $155 million.

"As the parent of a child living with CDKL5 deficiency, I strongly believe that restoration of missing CDKL5 protein holds the most promise for a future therapy," stated Michael Jasulavic, President and Chief Executive Officer of MiaMed. "It is this belief that led to the formation of MiaMed, a company dedicated to a protein replacement therapy for CDKL5. With this announcement, I am very pleased that Amicus will continue the work that was started amongst the patient and academic communities. Amicus is a truly patient-centric company with a global reach and proven R&D expertise necessary for the development of such important treatments. I am confident Amicus' advancement of this program will raise CDKL5 awareness and, most importantly, increase the potential for success in developing a CDKL5 protein replacement therapy."

"Today there is no approved treatment option for patients with CDKL5. The number of patients diagnosed has been increasing rapidly as more people learn about the disease, and physicians become more familiar with testing and diagnostic protocols. We welcome all efforts that accelerate the ongoing research and development of CDKL5 protein replacement therapy and help to raise awareness of CDKL5 deficiency," said Ashley R. Winslow, PhD, Director of Neurogenetics of the Orphan Disease Center at the University of Pennsylvania.1

"While there has been a significant collaboration between the patient organizations and academia in research and developing new treatments for CDKL5 deficiency, Amicus is among the first in the industry to add a CDKL5 development program and we look forward to learning more as the preclinical studies progress," added Dr. Winslow, who is also Chief Scientific Officer of the LouLou Foundation, a non-profit funder of CDKL5 research globally which held a beneficial interest in MiaMed.

About CDKL5 Deficiency

CDKL5 (cyclin-dependent kinase-like 5) is a gene on the X-chromosome encoding the CDKL5 protein that regulates the expression of several essential proteins for normal brain development. Genetic mutations in the CDKL5 gene result in CDKL5 protein deficiency. The disorder manifests clinically as persistent seizures starting in infancy, followed by severe impairment in neurological development. Most children affected by CDKL5 deficiency cannot walk or care for themselves and may also suffer from scoliosis, visual impairment, sensory issues, and gastrointestinal complications. CDKL5 mutations have been found in children diagnosed with cerebral palsy, infantile epilepsies, and autism, among other conditions, and the disorder was previously classified as atypical Rett Syndrome, an early seizure variant of Rett Syndrome. There are more than 1,200 documented cases of CDKL5 deficiency worldwide, with the number of identified patients increasing as genetic testing for the disorder becomes more common. For more information, and for a list of CDKL5 deficiency resources and foundations, please visit the Patient Advocacy section of the Amicus Therapeutics corporate website at http://www.amicusrx.com/patient_advocacy.php.

About Amicus Therapeutics

Amicus Therapeutics, Inc. (Nasdaq:FOLD) is a biotechnology company at the forefront of therapies for rare and orphan diseases. The Company has a robust pipeline of advanced therapies for a broad range of human genetic diseases. Amicus' lead programs in development include the small molecule pharmacological chaperone migalastat as a monotherapy for Fabry disease, SD-101 for Epidermolysis Bullosa (EB), as well as novel enzyme replacement therapy (ERT) and biologic products for Fabry disease, Pompe disease, and other rare and devastating diseases.

1Ashley Winslow, PhD, is an employee of the University of Pennsylvania and has no financial conflict of interest with MiaMed or Amicus. She does not receive any financial compensation from the LouLou Foundation although part of her salary is covered from a grant from LouLou Foundation to Penn.

Forward-Looking Statements

This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 relating to preclinical and clinical development of our product candidates and related programs, including the preclinical CDKL5 program, the timing and reporting of results from preclinical studies and clinical trials, the prospects and timing of the potential regulatory approval of our product candidates, commercialization plans, financing plans, and the projected cash position for the Company. Words such as, but not limited to, "believe," "expect," "anticipate," "estimate," "intend," "potential," "plan," "likely," "may," "will," "would," "should" and "could," and similar expressions or words identify forward-looking statements. Such forward-looking statements are based upon current expectations that involve risks, changes in circumstances, assumptions and uncertainties. The inclusion of forward-looking statements should not be regarded as a representation by us that any of our plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong and can be affected by inaccurate assumptions we might make or by known or unknown risks and uncertainties. For example, with respect to statements regarding the expected benefits of the MiaMed acquisition and the anticipated impact on our business, the future prospects of the CDKL5 program, the goals, progress, timing, and outcomes of discussions with regulatory authorities, and in particular the potential goals, progress, timing, and results of preclinical studies and clinical trials, actual results may differ materially from those set forth in this release due to the risks and uncertainties inherent in our business, including, without limitation: the possibility that the expected benefits of the MiaMed acquisition may not be fully realized or may take longer to realize than expected; the possibility that we may not be able to timely and successfully develop, gain regulatory approval for or commercialize a CDKL5 protein replacement therapy; the potential that results of clinical or preclinical studies indicate that the product candidates are unsafe or ineffective; the potential that it may be difficult to enroll patients in our clinical trials; the potential that regulatory authorities, including the FDA and EMA, may not grant or may delay approval for our product candidates; the potential that we may not be successful in commercializing our product candidates if and when approved; the potential that preclinical and clinical studies could be delayed because we identify serious side effects or other safety issues; and the potential that we will need additional funding to complete all of our studies. Further, the results of earlier preclinical studies and/or clinical trials may not be predictive of future results. With respect to statements regarding projections of the Company's cash position, including the impact of the completion of the MiaMed acquisition on our business, actual results may differ based on market factors and the Company's ability to execute its operational and budget plans. In addition, all forward-looking statements are subject to other risks detailed in our Annual Report on Form 10-K for the year ended December 31, 2015, our Quarterly Report on Form 10-Q for the quarter ended March 31, 2016, and our other periodic reports filed with the Securities and Exchange Commission. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and we undertake no obligation to revise or update this news release to reflect events or circumstances after the date hereof.

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28 June 2016

LouLou Foundation Names CDKL5 Research Grant Program Awardees and appoints Chief Scientific Officer

CDKL5 deficiency causes severe neurodevelopmental impairment, seizures

28th June 2016 - London – LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. This follows their announcement in February 2016 of a Program of Excellence to develop effective treatments for children with the disorder.

The grants were made following a rigorous selection process and peer review of 37 proposals received from renowned academic institutions around the world. The final awardees include leading scientific investigators at: Baylor College of Medicine, Boston Children’s Hospital, Imperial College London, Instituto Superiore di Sanità, Massachusetts General Hospital, University of California Davis Medical Center, University of Insubria, University of Massachusetts Medical School, University of Milan, and the University of Pennsylvania.

Each grant awardee will receive US$150,000 over one year to initiate novel translational research on CDKL5 deficiency, in key areas including drug screening, validating pathways, and novel therapeutic approaches. The new grants are in addition to substantial multi-year grant awards focused on the biological understanding of CDKL5’s function in the brain and development, made by Loulou Foundation in 2015 to the University of Dundee, the University of Edinburgh, and the University of Pennsylvania, which will now be joined to the Program.

Ashley R. Winslow, PhD, has also been named director of Neurogenetics for the ODC as well as Chief Scientific Officer of the Loulou Foundation. Winslow will direct the CDKL5 Program of Excellence, working with scientists and patient advocacy groups to develop a research strategy to fill key gaps in understanding CDKL5 deficiency, as well as to identify strategic partners in pharma and biotech.

“Ashley has an outstanding blend of academic credentials and industry experience that will be vital in shaping a research agenda for CDKL5 deficiency,” says Prof. James Wilson, Director of the Orphan Disease Center and Gene Therapy Program at UPenn.

The establishment of the Pilot Grant Program and the partnership between the LouLou Foundation and Penn ODC brings much-needed attention and funding for research on CDKL5 deficiency. There are currently more than 1,200 documented CDKL5 cases worldwide, with the number of identified patients increasing as genetic testing for the disorder becomes more common.

“Driven by technological advances and unprecedented data access, groups such as academia, biopharm, patient advocacy groups, and the NIH are rethinking the traditional models around translational research and clinical advancement. It is a very exciting time to be in rare disease research. I look forward to working with the scientific community to accelerate therapeutic development and biological understanding for CDKL5 deficiency,” says Ashley Winslow.

Winslow obtained her doctorate in Medical Genetics from the University of Cambridge and completed a Research Fellowship in neuro-genetics and pathology at Harvard University/ Massachusetts General Hospital. Prior to joining the ODC at Penn, Winslow was Associate Director of Neuroscience Genetics for Pfizer, World-Wide R&D, where she led efforts to integrate genomic, clinical, and biomarker datasets in order to establish data-driven approaches to target discovery and innovative clinical study design.

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28 June 2016

LouLou Foundation Names CDKL5 Research Grant Program Awardees and appoints Chief Scientific Officer

CDKL5 deficiency causes severe neurodevelopmental impairment, seizures

28th June 2016 - London – LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. This follows their announcement in February 2016 of a Program of Excellence to develop effective treatments for children with the disorder.

The grants were made following a rigorous selection process and peer review of 37 proposals received from renowned academic institutions around the world. The final awardees include leading scientific investigators at: Baylor College of Medicine, Boston Children’s Hospital, Imperial College London, Instituto Superiore di Sanità, Massachusetts General Hospital, University of California Davis Medical Center, University of Insubria, University of Massachusetts Medical School, University of Milan, and the University of Pennsylvania.

Each grant awardee will receive US$150,000 over one year to initiate novel translational research on CDKL5 deficiency, in key areas including drug screening, validating pathways, and novel therapeutic approaches. The new grants are in addition to substantial multi-year grant awards focused on the biological understanding of CDKL5’s function in the brain and development, made by Loulou Foundation in 2015 to the University of Dundee, the University of Edinburgh, and the University of Pennsylvania, which will now be joined to the Program.

Ashley R. Winslow, PhD, has also been named director of Neurogenetics for the ODC as well as Chief Scientific Officer of the Loulou Foundation. Winslow will direct the CDKL5 Program of Excellence, working with scientists and patient advocacy groups to develop a research strategy to fill key gaps in understanding CDKL5 deficiency, as well as to identify strategic partners in pharma and biotech.

“Ashley has an outstanding blend of academic credentials and industry experience that will be vital in shaping a research agenda for CDKL5 deficiency,” says Prof. James Wilson, Director of the Orphan Disease Center and Gene Therapy Program at UPenn.

The establishment of the Pilot Grant Program and the partnership between the LouLou Foundation and Penn ODC brings much-needed attention and funding for research on CDKL5 deficiency. There are currently more than 1,200 documented CDKL5 cases worldwide, with the number of identified patients increasing as genetic testing for the disorder becomes more common.

“Driven by technological advances and unprecedented data access, groups such as academia, biopharm, patient advocacy groups, and the NIH are rethinking the traditional models around translational research and clinical advancement. It is a very exciting time to be in rare disease research. I look forward to working with the scientific community to accelerate therapeutic development and biological understanding for CDKL5 deficiency,” says Ashley Winslow.

Winslow obtained her doctorate in Medical Genetics from the University of Cambridge and completed a Research Fellowship in neuro-genetics and pathology at Harvard University/ Massachusetts General Hospital. Prior to joining the ODC at Penn, Winslow was Associate Director of Neuroscience Genetics for Pfizer, World-Wide R&D, where she led efforts to integrate genomic, clinical, and biomarker datasets in order to establish data-driven approaches to target discovery and innovative clinical study design.

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5 February 2016

LouLou Foundation and the University Of Pennsylvania Create Program Of Excellence for Rare Genetic Disorder that Affects Children

CDKL5 causes severe neurodevelopmental impairment, seizures

5th February 2016 - London - The LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective 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.

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. The LouLou Foundation will provide a three-year renewable umbrella grant to fully 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 leading other institutions worldwide, and engage with the biopharma industry.

The focused grant program will welcome applications from academic labs and companies around the world and will be managed by a program director to be recruited specifically for this purpose. The size of the umbrella grant will depend on the number of grant applications ultimately awarded, but the partners are confident that the resources generously 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 centers and public and private institutions, all aimed at bringing the fruits of innovative research into the clinic as rapidly as possible.”

“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,” said a spokesperson for the LouLou Foundation. “We are delighted to begin this exciting collaboration with the center on behalf of all the children and families affected by this devastating disease.”

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