An observational study in PSP, PSP - Progressive Supranuclear Palsy and Corticobasal Syndrome, sponsored by Massachusetts General Hospital. Recruiting at 1 site in United States. Open to participants aged 35 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-01-14.
Sponsored by Massachusetts General Hospital · Observational
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.
Genetic research is important for basic, translational, and clinical researchers, and are particularly important for rare disease investigations. Understanding a patient's genetic background may also facilitate participant recruitment for targeted genetic therapeutic trials and has the potential to empower participants with PSP, CBS, MSA, or related neurological diseases and clinicians to make more informed decisions about their clinical care plan. Furthermore, genetic research augments the clinical counseling process by offering participants and their families a clearer understanding of disease risk in relatives. Overall, this study may help to refine current diagnostic criteria for PSP, CBS, MSA, and related neurological conditions, inform genetic counseling, fuel future research studies, and provide insights into potential therapeutic paradigms.
171 studies on the registry are indexed under Supranuclear Palsy, Progressive; 51 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 200 across 66 observational studies indexed under Supranuclear Palsy, Progressive.
Browse Supranuclear Palsy, Progressive studies →Massachusetts General Hospital is the lead sponsor of 2,586 studies on the registry; 447 are open to participants now.
Of its 222 completed or terminated interventional studies of FDA-regulated products, 168 (76%) have results posted.
Counted across the registry records on this site, refreshed daily.
Adults with PSP, CBD/CBS or MSA
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Adults with PSP, CBD or MSA
Other: Whole genome sequencing will be performed at the NIH
All samples will undergo non-CLIA approved whole genome sequencing on a research basis in collaboration with Sonja Scholz, MD, PhD at the Neurodegenerative Diseases Research Unit of the National Institutes of Health (Bethesda, MD). This sequencing method allows for the identification of not only variants known to be associated with these disorders but also potentially novel variants.
Whole genome sequencing
All samples will first undergo non-CLIA approved whole genome sequencing on a research basis in collaboration with Sonja Scholz, MD, PhD at the Neurodegenerative Diseases Research Unit of the National Institutes of Health (Bethesda, MD). This sequencing method allows for the identification of not only variants known to be associated with these disorders but also potentially novel variants.
Time frame: 5 years
Plan to share: Yes — All sequencing data will be deposited on a controlled-access repository such as the NIH Database of Genotypes and Phenotypes (dbGaP) and the Accelerating Medicines Partnership in Parkinson's Disease (AMP-PD) cloud-based data repository for data sharing by the genetic testing laboratory. Data access requests will be reviewed and approved by the corresponding repository's data access committee, such as the dbGaP Data Access Committee and the AMP-PD Access and Compliance Team, in accordance with their data use policies. No identifiable information will be shared.
Supporting information: Study protocol, Informed consent form
Time frame: June, 2025- December 2030
Access criteria: Data access requests will be reviewed and approved by the corresponding repository's data access committee, such as the dbGAP Data Access Committee and the AMP-PD Access and Compliance Team, in accordance with their data use policies. No identifiable information will be shared.
Data sharing details ↗ · www.amp-pd.org
Started Oct 2024 (actual). Primary completion is estimated for Dec 2028, 50 months after the start.
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