Epilepsy Phenotype in CDKL5 Deficiency Disorder: What we have learned from data contributed International CDKL5 Database This talk discusses the types of seizures, age of onset, and evolution of epilepsy in CDD. We will finish with a discussion of the use of Ketogenic diet and VNS in CDD.
Scott Demarest, MD
Helen Leonard, MBChB, MPH
Understanding and Supporting Children and Youth with Cortical Visual Impairment: An Introduction – Cortical visual impairment (CVI) is the leading cause of visual impairment in children in the western hemisphere, and is prevalent in children and youth with CDKL5. CVI differs greatly from any ocular (eye-related) visual impairment and is expressed on a Range of impact in 10 unique behavioral Characteristics. Children with CVI can be expected to make progress in their visual functioning, given appropriate assessment and intervention based upon an understanding of the CVI Characteristics. Participants will gain knowledge of the CVI Characteristics and Phases of the severity of impact, and concrete information to support progress in visual functioning for their child/student.
Chris Russell, Project Coordinator, New York Deaf-Blind Collaborative.
Student-Centered AAC for Learners with Cortical Visual Impairment (CVI) – Cortical Visual Impairment (CVI) is the leading cause of visual impairment in the western hemisphere, yet presently there exists a significant lack of training and a critical need for information supporting the impact of CVI on communication systems including Alternative and Augmentative Communication modalities (AAC). Families and educational teams need additional support and information regarding the design and implementation of communication systems that are accessible to the child, both visually and conceptually. This session will focus on creating a balance between accessible communication on a sensory level (vision) and on a communication/cognitive level (level of symbolic language development).
Chris Russell, Project Coordinator, New York Deaf-Blind Collaborative.
Connecting through Communication: Forming Initial Connections Anytime, Anywhere, Anyhow – Individuals with CDKL5 are communicating all the time in their own unique ways. They have their own preferences and interests and are communicating these with people in their lives. When communication partners learn to “tune” into their natural communication gestures by looking for them, acknowledging them, and giving them meaning, individuals with CDKL5 will naturally form connections and increase their interactions and engagement throughout the day. In this presentation, participants will learn how to recognize these natural communication gestures and build on them to shape and expand the communication abilities of individuals with CDKL5. Participants will also learn how identifying one natural gesture for an affirmation or “yes” response is all that is needed to open up the world of communication for individuals with CDKL5.
Judy Lariviere, M.Ed., OTR/L
Independent Access to Their Voice-Supporting Social Connections throughout Technology – All children, teens, and adults with CDKL5 need independent access to their own “voice.” Although family members, friends, caregivers, and educators/therapists have learned to recognize their natural communication gestures for expressing wants and needs, communication and connection with others extends beyond this level. In this presentation, participants will learn how to support individuals with CDKL5 in using a range of technology options in innovative ways to successfully take their son or daughter’s communication to the next level so they can use their own “voice” to connect with others through natural open-ended conversations. By giving them independent access to content they want to talk about, such as music, their interests and life experiences, their personality shine through. Practical suggestions for integrating various technology-based communication tools into real-life situations will be shared throughout this presentation.
Judy Lariviere, M.Ed., OTR/L
Keynote: Presuming Competence – Shifting to Solutions and Success
Judy Lariviere, M.Ed., OTR/L
Challenging Behaviors in Individuals with CDKL5 –Discuss potential causes for behavioral challenges and explore the integration of a medical and behavioral interventions approach.
Sandra Friedman MD, MPH/MSPH, and Terry Katz PhD
Developing Biomarkers & Outcome Measures for CDD Research –
Part 1: Using brainwaves as a measure of a drug impact: the implications for CDD. We will review EEG and other electrophysiological studies and how they can be used as a biomarker or to measure outcomes. We will also review the concept of a biomarker for research and clinical purposes. We will use examples from the ongoing NHS Evoked potential study as a guide.
Eric Marsh, MD, PhD
Part 2: Quality of life domains important for individuals with the CDKL5 Deficiency Disorder. Quality of life (QOL) is an important endpoint when supporting health and wellbeing. Our group previously conducted 76 interviews with parents of six- to 18-year-old children with Down syndrome, autism spectrum disorder, severe cerebral palsy and Rett syndrome. We then used thematic analysis to identify the important QOL domains. In the absence of well validated measures of QOL for these children, we extracted items from the interview data and developed a new measure called the Quality of Life Inventory – Disability (QI-Disability). We then conducted 25 interviews with parents to explore the QOL domains important to individuals with CDD. As for other causes of intellectual disability, domains related to physical health, mood, behaviour, social interaction, day-to-day living, and leisure and recreation. QI-Disability was relevant across the spectrum of intellectual disability including CDD and addressed their unique qualities. This presentation will provide examples to illustrate the QOL domains and present QI-Disability.
Jenny Downs, PhD
Development of Clinical Severity Scale for CDD – There is no single clinical severity scale that depicts the challenges faced by patients and families with CDKL5 deficiency disorder. Through clinical experience within the IFCR Centers of Excellence and an approach to build consensus among world experts and caregivers, we have developed the currents scale for further feedback. This scale is meant to include features that require a clinical examination. This scale is an initial tool to be useful for in all or in parts: clinical care, clinical trials and natural history. Limitations of the scale include time to complete and focus on aspects that may excessively weight aspects that may not necessarily reflect care-giver perceptions of improvement or decline. Next steps include initial experience and publication.
Tim Benke, MD/PhD
Ganaxolone Updates & Clinical Trial Design in Rare Epilepsies – This session will present the clinical development of ganaxolone which is a promising investigational drug for the treatment of CDKL5 Deficiency Disorder (CDD). First, the scientific rationale for the use of this drug in rare pediatric epilepsies will be discussed followed by results from the Phase 2 open-label study. Then the design of the upcoming Phase 3 clinical trial, which is the first of its kind in this disorder, will be presented.
Lorianne Masuoka, MD
Gastrointestinal Problems in CDKL5 and Rett-like Disorders – Gastrointestinal problems in CDKL5 and Rett-like disorders. Discuss common GI complications in CDKL5 Syndrome including dysmotility, constipation, reflux, aerophagia, and tubes.
Edwin Liu, M.D.
Genetics 101 – What’s in a CDKL5 mutation – Genetic testing & genetic counseling as it relates to CDKL5 Deficiency, including a review of genetic terminology, information about the CDKL5 gene, and a guide on interpreting genetic testing reports.
Kaitlin Angione, MS CGC
Global Genes Workshop: Introduction to Participating in Rare Clinical Trials – In this session, a member of Global Genes (a rare disease patient advocacy organization) will provide an overview of clinical drug development with a focus on rare disease clinical trials. You will gain a basic understanding of how drugs and biologics move from discovery to clinical development and on to an FDA approved therapy. During this informative session, we will explore the regulatory process with an emphasis on the three key phases of clinical trials, what they mean to you, and how you can get involved in the process.
Seth Frits, MSW; Corporate Engagement, Global Genes
Industry Panel – Moderated by Ana Mingnorance PhD., Chief Development Officer, Loulou Foundation
Guests:
Mahindra Makhija Ph.D., Director, TAK-celerator, Centre for External Innovation at Takeda
Sean Clark, PhD, Senior Director, Biochemistry & Cell Biology at Amicus Therapeutics
Kathryn (Kate) Nichol PhD, Senior Medical Affairs Director at Greenwich Biosciences
Asif Paker, MD, VP Clinical Development at Ovid Therapeutics
Let’s Talk-Puberty, periods, and CDKL5 for Girls and Women with Special Medical Needs – This session will review the physiology of female puberty and what to expect in terms of timing of physical changes and the reason for these changes. We will discuss menstrual periods and possible options to manage them when needed for girls with CDKL5. Finally, we will review sexual health topics that parents can discuss and teach their children at home, discuss HPV and pap smears, and address other gynecologic health concerns.
Eliza Buyers, MD, FACOG
Movement Disorders – Movement disorders are a common occurrence in Rett and Rett-like disorders, including CDKL5 syndrome. They may pose a burden to the individual’s well-being and significantly complicate purposeful interaction with the environment. This talk will cover the most common movement disorders occurring in CDKL5 syndrome and possible approaches for treatment. It will also discuss issues associated with gait and mobility encountered in Rett and Rett-like syndromes.
Bernhard Suter, MD
Novel Epilepsy Therapies Panel – Exploring alternative treatment options including promises and problems facing gene therapy, IVIG, steroids, CBD, and other pharmacological therapies on the horizon.
Moderator: Scott Demarest MD
Timothy A. Benke MD, PhD – Gene therapy
Eric Marsh M.D., Ph.D. – Trial experience
Elia M. Pestana Knight MD – IVIG & Steroids
Updates on Published CDD Research – from fish to humans – The published literature concerning CDKL5 deficiency disorder over the past year will be reviewed. We will discuss: 1) findings from the use of cellular and animal models to understand the basic biology, 2) translational studies in animals that begin to address potential therapies and 3) human studies that help us understand the natural history. While some studies raise more questions, each of these potentially moves us forward towards treatments and cures.
Tim Benke, MD, PhD
We like to Move it, Move it! Physical Rehabilitation and Therapy Modalities in CDKL5 – Targeting CDKL5 specific movement and processing disorders with both traditional and less than traditional therapies.
Anne Stratton, MD, FAAP, FAAPMR –
Who do you want on your team and why? – Let’s discuss everything from the care providers your child should have on their medical care team to the people you should have in your life for support. We will discuss the standards of health and recommendations that centers of excellence have for care.
Tristen Dinkel, CNRN, CPN, RN, BSN