RARE DISEASES CLINICAL RESEARCH NETWORK
Clinical Research in ALS and Related Disorders for Therapeutic Development |  |
Working to advance therapeutic development for amyotrophic lateral sclerosis (ALS)—a progressive motor neuron disease that leads to problems with muscle control and movement—and related disorders. | |
Principal Investigator
University of Miami - Miller School of Medicine
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NUMBERS
TOP PUBLICATION
JOURNAL: Annals of Neurology
Biomarkers play an essential role in developing new therapies for ALS. However, more biomarkers that can help monitor and demonstrate response to an experimental therapy are needed.
In this study, researchers identified new skeletal muscle biomarkers for ALS. The team performed a proteomics analysis to measure levels of proteins in plasma and cerebrospinal fluid samples from patients with ALS and healthy controls.
Results reveal a panel of 329 plasma proteins with levels that significantly vary between patients with ALS and controls. Authors note that these skeletal muscle biomarkers may help track ALS disease state and progression, aiding in the development of new therapies.
What was your consortium's most significant achievement from the past year?
Michael Benatar, MD, PhD, Principal Investigator, CReATe: Changing the dialogue around the best approach to early/mid-stage ALS clinical trials.
EARLY CAREER INVESTIGATOR SPOTLIGHT
What are your research goals?
Dr. Vandebergh: Frontotemporal dementia (FTD) is characterized by variability in age at onset, disease duration, and clinical presentation, ranging from language deficits to personality changes and impaired motor function. One-third of patients show a strong family history, with most common genetic causes of FTD being autosomal dominant mutations in the progranulin (GRN) gene, the microtubule-associated protein tau (MAPT) gene, and the chromosome 9 open reading frame 72 (C9orf72) gene. However, the presence of reduced or age-dependent penetrance adds further to the observed heterogeneity. A fundamental question is which mechanisms underlie this observed disease heterogeneity in FTD. The goal of my research is to reveal the genetic factors that contribute to patient-to-patient heterogeneity in FTD and understand their underlying biology. To this end, I aim to identify novel candidate genetic modifiers of disease onset by using a genome-wide association approach.