Progressive Supranuclear Palsy (PSP)

This prospective observational study aims to identify and preliminarily validate molecular biomarkers, including microRNAs and metabolites, for the early differentiation of Parkinson's disease (PD) from atypical parkinsonian syndromes (APS). The study will enroll up to 100 patients with PD, 50 patients with suspected APS, and 50 healthy controls. Participants will undergo clinical assessments and provide blood, urine, and stool samples at baseline and after 12-18 months of follow-up. Molecular analyses, including microRNA profiling, metabolomics, RNA sequencing (RNA-seq), and microbiome analysis, will be performed to identify disease-specific diagnostic signatures. The primary objective is to detect differences in molecular profiles among patients with PD, patients with APS, and healthy controls. Secondary objectives include evaluating the diagnostic accuracy of biomarker panels and assessing longitudinal changes in these biomarkers over time. Although participants will not receive direct therapeutic benefits, the study may contribute to the development of non-invasive tools for the early diagnosis and improved differentiation of parkinsonian disorders.

In this study the investigators would like to investigate the degree of damage of the synapses, an important part of the neurons vital for the communications between neurons, in Multiple System Atrophy (MSA), and pathology related to abnormal accumulation of a protein named tau, in Progressive Supranuclear Palsy (PSP).

This study is an observational, prospective genetic study. It aims to obtain DNA for research and testing from patients with PSP, CBS, MSA, and related neurological conditions and their families. Up to 1,000 adults who have been clinically diagnosed with PSP, CBS, MSA, or related neurological conditions will be enrolled. The study intervention involves sequencing of participant blood samples using non-CLIA-approved whole genome sequencing at the National Institutes of Health. Pathogenic variants that are deemed possibly related to these conditions will be confirmed using CLIA-approved testing. The study involves minimal risk to participants.

This clinical study is being conducted to learn more about two new imaging drugs, called \[18F\]ABBV-964i and \[18F\]ABBV-965i, which are designed to help doctors see changes in the brain related to a condition called Progressive Supranuclear Palsy (PSP). PSP is a rare disease that affects movement, balance, and thinking. These drugs are used with a type of scan called PET (Positron Emission Tomography) to show areas of the brain where a protein called tau builds up. Tau buildup is linked to PSP and other brain diseases. The main goal of this study is to find out if these imaging drugs are safe for people and if they work well to show tau in the brain. The study will also look at how the drugs move through the body and how much radiation they give off. Researchers hope this information will help develop better tools for diagnosing PSP and tracking how it changes over time. Who can join? Adults who are healthy or who have PSP may be able to take part. Participants will have screening tests to make sure they qualify. What does participation involve? People in the study will have PET scans, blood tests, and other safety checks. Some participants will also have an MRI scan. The study is divided into three parts: Part A checks radiation levels in healthy volunteers, Part B looks at how the drugs work in the brain of PSP patients and healthy volunteers, and Part C (optional) repeats scans to see if results are consistent. Why is this important? There is currently no cure for PSP, and better imaging tools could help researchers develop new treatments. By joining this study, participants will help advance research that may improve care for people with PSP and similar conditions in the future.

The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement. Conducted at the Centre de Référence Liégeois des Maladies Neuromusculaires in Liège, Belgium, the study will enroll 300 ambulant patients, including individuals with neuromuscular disorders and obesity. Using the Syde® wearable device, the study aims to continuously monitor motor function in real-life settings over a period of up to two years. The primary objective is to evaluate the utility of digital mobility outcomes, such as the 95th centile of stride velocity (SV95C), as reliable and objective endpoints for future clinical trials.

ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) represents the formalized integration of ARTFL (U54 NS092089; funded through 2019) and LEFFTDS (U01 AG045390; funded through 2019) as a single North American research consortium to study FTLD for 2019 and beyond.