Clinical Research Focus: Canavan DiseaseCan Aspire, investigational gene therapy trial for Canavan DiseaseConsultation on clinical outcome measures including training physical therapists on reliable outcome administration, assisting in the development of study documents including item instructions and the assessor manual.Outcome assessments include: Bayley-4, AIMS, GMFM-88, HINE-2, IMP, TIMPSI

Clinical Research Focus: Canavan DiseaseCan Inform, Canavan Disease natural history studyData Extraction from medical records of critical milestone and motor function data, training of new Data Extraction Specialists, collaboration with data management to ensure accurate recording of data in database, collaboration with study team to ensure consistency in data collection and appropriate analysis

Clinical Research Focus: MPS I, MPS VI Provide consultation on clinical outcomes under contract with Phillips Consulting.

Clinical Research Focus: Molybdenum Cofactor DeficiencyProvide clinical outcome assessment support for clinical trials in Molybdenum Cofactor Deficiency. Responsibilities include assessment scoring, interpretation and communication of assessment results, contribution of clinical outcome assessment related information to study documents including protocol, case reports, and regulatory documents for successful FDA approval. Conducted face to face and online instructor-led trainings, both domestically and internationally to instruct assessors at clinical study sites around the world in the use of study- specific outcome measures. Outcome Measures Include: Bayley Scales of Infant Development, Gross Motor Function Measure (GMFM-88), Gross Motor Function Classification System, Pediatric Evaluation of Disability Inventory

Clinical Research Focus: Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Clinical Outcome Assessments (COAs) and Training Consultant November 2018 – Present • Collaborate with study team in the identification of functional deficits in ARHR2 for the purpose of choosing appropriate Clinical Outcome Assessments for use in upcoming clinical trial• Assess available Clinical Outcome Measures to be included in clinical trial, taking into account assessment burden, cost, training needs, frequency of use in clinical trials among other pertinent factors to assist in choice of most appropriate assessments• Work with medical writers to create Clinical Outcome Assessment section of the Protocol Synopsis and the Clinical Trial Protocol• Develop documentation for Clinical Outcome Assessments including User Manual and eCRF• Develop training materials for the training of site assessors in the administration of clinical outcome assessments

Provide home based physical therapy services to children aged birth to ten. Administer evaluations and develop individualized treatment programs. Develop home programs for parents and caregivers. Order adapted equipment as necessary. Work closely with service coordinators and appropriate medical professionals to ensure high quality services through team communication and collaboration.

Clinical Research Focus: Pompe DiseaseProvide physical therapy support services for clinical trials conducted by Sanofi in Pompe disease under contract with Catherine Wilson Physical Therapy, LLC.. Responsibilities include administering face to face and online instructor-led trainings, both domestically and internationally to instruct assessors at clinical study sites around the world in the use of the study specific outcome measures. Outcome Measures Include: Bayley Scales of Infant Development, Leiter International Performance Scale, Gross Motor Function Measure, Gross Motor Function Classification System, Quick Motor Function Test, Six Minute Walk Test, Gait Stairs Gower's Chair and Hand Held Dynamometry

Clinical Research Focus: HypophosphatasiaProvide physical therapy support services for clinical trials in Hypophosphatasia and Molybdenum Cofactor Deficiency. Responsibilities include assessment scoring and communication of assessment results with study team as well as conducting face to face and online instructor-led trainings, both domestically and internationally to instruct assessors at clinical study sites around the world in the use of study- specific outcome measures. Outcome Measures Include: Bayley Scales of Infant Development, Peabody Developmental Motor Scales, Bruininks-Oseretsky Test of Motor Proficiency, Gross Motor Function Measure, Gross Motor Function Classification System, PODCI, CHAQ, Six Minute Walk Test, Hand Held Dynamometry

Provide physical therapy services to infants and children up to age five. Assist in the integration of children with special needs into all of the daily preschool activities. Provide direct therapy as well as consultation to teachers and parents. Determine needs for adaptive equipment, order and adjust equipment, and instruct parents and teachers in use of equipment. Develop and implement Individualized Family Service Plans and Individualized Education Plans using a team approach. Work closely with other disciplines (education, occupational therapy and speech therapy) to integrate therapy goals into daily routines. Consult with community medical providers as necessary. Communicate regularly with parents regarding their child’s progress.