Tuesday, July 19 2022

Leukodystrophy NBS State Updates
New York – Dr. Joseph Orsini
Missouri – Tracy Klug
Kentucky – Darrin Sevier
Ohio – Dr. Margie Ream
Tennessee – Dr. Christine Dorley
Illinois – Dr. Joseph Orsini
New Jersey – Dr. Miriam Schacter
Indiana – Barb Lesko
Pennsylvania – Patricia Alexander

NBS for Leukodystrophies

NBS for Krabbe Disease (KD) – Updates and Improvements
Presenter: Dr. Dietrich Matern

Krabbe NBS Advisory Council
Presented by: Dr. Joanne Kurtzberg

Krabbe NBS Family Guide
Presented by: Dr. Robert Thompson Stone

Patient Experiences, Krabbe Disease NBS
Presented by: Natasha Spencer, Karlita Blackwell, & Christin Webb

Improving Krabbe Disease NBS Patient Experiences and Outcomes
Presented by: Dr. Joanne Kurtzberg

Krabbe Disease NBS Outcomes – Standardizing Nerve Conduction
Presented by: Dr. Margie Ream

Biochemical NBS meets DNA Sequencing NBS: It is not one or the other
Presented by: Dr. Michael Gelb

ALD NBS Overview/Update
Presented by: Dr. Ali Fatemi and Dr. Eric Mallack

MLD NBS Overview/Update
Presented by: Dr. Michael Gelb

CTX NBS Overview/Update
Presented by: Dr. Andrea DeBarber

Wednesday, July 20, 2022

Leukodystrophy Clinical Care and Treatments – Industry Updates: Clinical Trials and Research
Passage Bio
Forge Biologics
Travere Therapeutics
Orchard Therapeutics
Vigil Neuroscience, Inc.

DUOC: A Cord Blood Therapy to Myelinate the Brain
Presented by: Dr. Joanne Kurtzberg

Early Signs and Symptoms of Leukodystrophies: A Case Based Guide
Presented by: Dr. Maura Ruzhnikov

A Systematic Evidence Review for Cerebrotendinous Xanthomatosis: Phenotypic Spectrum of Disease and Response to Therapy
Presented by: Dr. Austin Larson

Update on Rehabilitation for Children with Leukodystrophies
Presented by: Dr. Sally Evans

Respiratory Clinical Practice Guidelines for Leukodystrophies
Presented by: Dr. Geovanny Perez

Clinical Care for Patients with Cerebrotendinous Xanthomatosis
Presented by: Dr. Brian Wishart