All times shown in EST. Please refer to the brochure for other time zones.

8:30 am Chair’s Opening Remarks

Patient Advocacy Groups Set the Stage

8:40 am A Journey Through Drug Development for Angelman Syndrome

  • Allyson Berent Chief Scientific Officer, FAST, Chief Operating Officer, GeneTx Biotherapeutics

Synopsis

• Bringing together Passion, Community, Great Science and a Vision is key to success

• Support many different therapeutic platforms has value

• Supporting NHS and endpoint consortia has served the AS community well in industry

8:50 am Partnering with Rare Disease Foundations to Accelerate Treatment Development: The Fragile X Example

Synopsis

• Fragile X offers models and pathways for developing drugs for autism spectrum spectrum disorders and other brain disorders

• Rare disease foundations are uniquely positioned to conduct efficient, inexpensive preclinical testing and pilot clinical trials.

9:00 am The Role of Patient Advocacy Groups in Advancing the Development of Meaningful Treatments for Rare Disease Communities

  • Susan Hedstrom Executive Director, Foundation for Prader-Willi Research

Synopsis

In this presentation, we will share three critical steps for advocating for new treatments:

  • Capturing and sharing the voice of the community
  • Bringing together stakeholders for collaboration
  • Developing a ‘research ready’ community

9:10 am Symptomatic vs Genetic Disease Modifying Treatments

  • Yael Weiss Vice President Business Development, Ultragenyx
  • Samir Koirala Director of Research, Genetic & Neurodevelopmental Disorders Unit, Biogen
  • Jeremy Levin CEO & Chairman, Ovid Therapeutics
  • Randall Carpenter Co-Founder | CMO, Allos Pharma | Rett Syndrome Research Trust
  • Robert Ring Chief Executive Officer, Kaerus Bioscience

Synopsis

Most industry portfolios reflect either a strategic balance between, or unitary commitment to either small molecule or genetic modalities for engaging targets involved in the biological processes implicated in rare diseases of the central nervous system. This panel will explore key strategic, technical, and scientific considerations shaping these decisions.

• How can we assess benefit/risk potentials of therapeutic modalities, and tailor them for patient subtypes?

• How has our increased understanding of genetic mechanisms sharpened the field’s rationalization of drug targets and improved opportunities for disease modifying approaches?

10:10 am Speed Networking

10:50 am How Do We Best Design Clinical Trials for Neurodevelopmental Disorders? A Clinical Researcher’s Perspective

  • Elizabeth M. Berry-Kravis Professor, Co-director, Molecular Diagnostics Section of the Genetic Laboratory | Director Fragile X Clinic & Research Program; Co- Director, Rush University Medical Center | Angelman Syndrome Clinic & Research Program

Synopsis

• Important learnings from failed clinical trials in Fragile X Syndrome

• What changes have we made to these trials that have yielded positive results?

• How do we build relationships with communities that will lead to measurement of relevant outcomes in trials?

• What time constraints should we have on a clinical trial?

• What does a good clinical development program look like for neurodevelopmental disorders? What kinds of trials are needed?

• How should we manage recruitment and patient expectations for these trials?

• What do we need to know in order to develop appropriate tools for future clinical trials in each specific neurodevelopmental disorder?

11:20 am Session Reserved for Ulysses Neurosciences

  • John Kealy Principal Scientist, Academic Liaison Manager, Ulysses Neuroscience

11:50 am Ways to Better Measure Neurodevelopmental Outcomes & Develop Endpoints that are Patient Centric

  • Audrey Thurm Director, Neurodevelopmental & Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, NIH

Synopsis

• Striving for clarity and certainty with measuring neurodevelopmental domains

• Cognitive development, motor development, general functional or communication, what’s the best approach?

• Developing outcome measures and clinical trial design that work in a way that makes sense and that we can use for all trials going forward.

• Finding measures that are functional for the individual

• New communication measures

• Approaches to capturing a broader assessment of clinical benefit in heterogeneous complex rare disease

12:20 pm Assessing the Timing of Treatment: Driving Better Clinical Trial Design

  • Mustafa Sahin Director, Translational Neuroscience Center; Director, Translational Research Program; Rosamund Stone Zander Chair, Professor of Neurology, Harvard Medical School

Synopsis

• Assessing critical developmental windows of treatment in neurodevelopmental disorders

• Evaluating their relevance for understanding disease progression and their potential for the design of new therapies

• Limitations and caveats of early interventions

12:50 pm Live Q&A Session with Your Expert Speakers

  • Elizabeth M. Berry-Kravis Professor, Co-director, Molecular Diagnostics Section of the Genetic Laboratory | Director Fragile X Clinic & Research Program; Co- Director, Rush University Medical Center | Angelman Syndrome Clinic & Research Program
  • John Kealy Principal Scientist, Academic Liaison Manager, Ulysses Neuroscience
  • Audrey Thurm Director, Neurodevelopmental & Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health, NIH
  • Mustafa Sahin Director, Translational Neuroscience Center; Director, Translational Research Program; Rosamund Stone Zander Chair, Professor of Neurology, Harvard Medical School

1:20 pm Networking Lunch

2:00 pm Ovid’s Patient-Driven Approach to the Rapid Development of Meaningful Medicines for Neurodevelopmental Disorders

  • Luke Rosen Head of Accelerated Development & Community Engagement, Ovid Therapeutics

Synopsis

• Working with rare disease stakeholders to forge efficient collaborations that will positively impact patients

• Community-powered approaches to boost enrollment & the overall availability of data

• Ovid’s approach to developing endpoints that are patient-centric

• Driving effective rare disease policy, access to diagnostics and inclusive education

2:30 pm Patient-Powered Approaches to Expand Enrolment & The Accessibility of Natural History Data

Synopsis

• The need to build better natural history studies

• How do we build natural history studies of each one of these diseases? How much information do you need over how long a period of time?

• Innovative approaches to accelerate how data can be gathered and leveraged to create actionable insights into neurodevelopmental disorders

• Implementing the use of this “patient-powered” design to collect and federate high-quality data

• How important are the natural history studies to delay doing trials due to lack of natural history studies?

3:00 pm Precision Medicine with Kv3 Channel Modulators: Matching Mechanism to Patient Pathophysiology

Synopsis

• Development of Kv3 channel modulators for the treatment of rare neurodevelopmental disorders, such as Fragile X Syndrome and genetic epilepsies

• Matching the target and drug mechanism to the most appropriate patient populations

• Selecting mechanism and disease-relevant biomarkers such as EEG, auditory evoked potentials, or TMS

3:30 pm Precision Medicine for Neurodevelopmental Disorders

Synopsis

• Addressing the pressing need to stratify and better characterise subpopulations of patients with neurodevelopmental disorders (NDDs) through omics-based precision medicine

• Integrating and analysing large datasets of genomic, proteomic, pharmacogenomic, anatomical, medical and clinical data

• DEPI technology is the first platform to enable the acceleration and derisking of clinical biomarker discovery and drug development in NDDs

4:00 pm Targeting Rare Genetic Channelopathies of Neurodevelopment

  • Robert Ring Chief Executive Officer, Kaerus Bioscience

Synopsis

• Role of potassium channelopathies in neurodevelopmental disorders

• Discovery and development of objective biomarkers for specific potassium channelopathies

4:30 pm Live Q&A Session with Your Expert Speakers

  • Luke Rosen Head of Accelerated Development & Community Engagement, Ovid Therapeutics
  • Charlene Son Rigby CEO | President & Founding Board Member , RARE-X | STXBP1 Foundation
  • Charles Large Chief Executive Officer, Autifony Therapeutics
  • Robert Ring Chief Executive Officer, Kaerus Bioscience

5:00 pm Afternoon Break

5:20 pm EEG as a Translational Biomarker for Angelman Syndrome

Synopsis

• Slow-wave delta EEG activity is an objective measure of neuronal function which reflects clinical severity in Angelman Syndrome

• A mouse model of Angelman syndrome also shows abnormal slow-wave oscillations which can be corrected after treatment with an ASO which increases Ube3a protein

• EEG acquisition and analyses are being optimized for use in interventional trials as a potential early indicator of therapeutic efficacy

5:50 pm Identification, Validation & Use of Biomarkers to Accelerate Therapeutic Evaluation in Neurodevelopmental Disorders

  • Michela Fagiolini Associate in Neurology, Associate Professor of Neurology, Harvard Medical School

Synopsis

• Pushing the development of translational and quantitative biomarkers to augment outcomes measures

• Developing new strategies to restore cortical function and critical period timing by targeting Excitatory/Inhibitory circuits as a possible therapeutic intervention.

• What biomarkers can be broadly applicable across neurodevelopmental disorders? Which ones are disease specific?

• Can we develop a portfolio of biomarkers that complement one another to choose for your clinical trial?

6:20 pm Angelman Syndrome Biomarker & Outcome Measure Consortium (ABOM): Understanding What Matters to Patients with a Heterogenous Neurodevelopmental Disorder

  • Allyson Berent Chief Scientific Officer, FAST, Chief Operating Officer, GeneTx Biotherapeutics

Synopsis

• NHS, Disease concept models and focus domains on what is important to patients and caregivers: Staying pre-competitive

6:50 pm Increasing Sensitivity & Specificity of Outcome Measures in Trials for Neurodevelopmental Disorders Using Both Clinical Outcome Assessments & Neuroimaging Approaches

Synopsis

• Identify critical considerations when selecting clinical outcome measures for neurodevelopmental disorders trials

• Discuss how to adapt key clinical endpoints to fit neurodevelopmental disorder trials

• Describe neuroimaging approaches and endpoints in neurodevelopmental disorders trials

7:20 pm Live Q&A Session with Your Expert Speakers

  • Robert Komorowski Senior Clinical Scientist, Biogen
  • Michela Fagiolini Associate in Neurology, Associate Professor of Neurology, Harvard Medical School
  • Allyson Berent Chief Scientific Officer, FAST, Chief Operating Officer, GeneTx Biotherapeutics
  • Pam Ventola Associate Professor, Yale Child Study Center
  • Kevin Pelphrey Harrison-Wood Professor, University of Virginia

7:40 pm Chair’s Closing Remarks