Clinical trials, data sharing and outcome measurement
Chairs:
Jonathan Baets with Filippo Genovese
Keynote Talk:
- 9:00 PL4-K: Wolfgang Pernice (Columbia University, Irving Medical Center, USA)
DANCER: a new collaborative tool for ultra-scalable patient-partnered tracking of disease state and progression in CMT
Selected presentations:
- 9:30 PL4-01: Connor Maltby (Ulysses Neuroscience Ltd., Ireland)
Acetylated α-Tubulin as a clinical plasma biomarker of disease severity in CMT1A (abstract in pdf, 226 kb) - 9:43 PL4-02: Michael Shy (University of Iowa, USA)
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants (abstract in pdf, 243 kb) - 9:56 PL4-03: Marion Masingue (Pitié-Salpêtrière University Hospital, France, France)
A COA8 homozygous mutation presenting as a demyelinating CMT with leukopathy (abstract in pdf, 226 kb) - 10:09 PL4-04: Alessandro Bertini (Istituto Neurologico C Besta, Italy)
Genotype-phenotype correlation in a large cohort with HSPB1-related neuropathy (abstract in pdf, 236 kb)