TY - JOUR
T1 - Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
T2 - Review of Clinical Manifestations as Foundations for Therapeutic Development
AU - Papapetropoulos, Spyros
AU - Pontius, Angela
AU - Finger, Elizabeth
AU - Karrenbauer, Virginija
AU - Lynch, David S.
AU - Brennan, Matthew
AU - Zappia, Samantha
AU - Koehler, Wolfgang
AU - Schoels, Ludger
AU - Hayer, Stefanie N.
AU - Konno, Takuya
AU - Ikeuchi, Takeshi
AU - Lund, Troy
AU - Orthmann-Murphy, Jennifer
AU - Eichler, Florian
AU - Wszolek, Zbigniew K.
N1 - Publisher Copyright:
Copyright © 2022 Papapetropoulos, Pontius, Finger, Karrenbauer, Lynch, Brennan, Zappia, Koehler, Schoels, Hayer, Konno, Ikeuchi, Lund, Orthmann-Murphy, Eichler and Wszolek.
PY - 2022/2/3
Y1 - 2022/2/3
N2 - A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare, debilitating, and life-threatening neurodegenerative disorder for which disease-modifying therapies are not currently available. Details on potential efficacy endpoints for future interventional clinical trials in patients with ALSP and data related to the burden of the disease on patients and caregivers were also reviewed. The information in this position paper lays a foundation to establish an effective clinical rationale and address the clinical gaps for creation of a robust strategy to develop therapeutic agents for ALSP, as well as design future clinical trials, that have clinically meaningful and convergent endpoints.
AB - A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare, debilitating, and life-threatening neurodegenerative disorder for which disease-modifying therapies are not currently available. Details on potential efficacy endpoints for future interventional clinical trials in patients with ALSP and data related to the burden of the disease on patients and caregivers were also reviewed. The information in this position paper lays a foundation to establish an effective clinical rationale and address the clinical gaps for creation of a robust strategy to develop therapeutic agents for ALSP, as well as design future clinical trials, that have clinically meaningful and convergent endpoints.
KW - ALSP
KW - CSF1R
KW - HDLS
KW - adult-onset
KW - axonal spheroids
KW - leukodystrophy
KW - leukoencephalopathy
KW - pigmented glia
UR - http://www.scopus.com/inward/record.url?scp=85124831043&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85124831043&partnerID=8YFLogxK
U2 - 10.3389/fneur.2021.788168
DO - 10.3389/fneur.2021.788168
M3 - Review article
AN - SCOPUS:85124831043
SN - 1664-2295
VL - 12
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 788168
ER -