The CurePSP Genetics Program

NCT06647641 | Recruiting DMC

• 1 other identifier: 2024P001971
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

PSP; PSP - Progressive Supranuclear Palsy; Corticobasal Syndrome; Corticobasal Syndrome(CBS); Corticobasal Degeneration Syndrome; Corticobasal Degeneration; Corticobasal Degeneration (CBD); Corticobasal Syndrome (CBS); MSA; MSA - Multiple System Atrophy; MSA-C; Multiple System Atrophy; Multiple System Atrophy - Parkinsonian Subtype (MSA-P); Multiple System Atrophy, Cerebellar Type; Multiple System Atrophy, Parkinsonian Type; Progressive Supranuclear Palsy; Progressive Supranuclear Palsy(PSP); Progressive Supranuclear Palsy (PSP); Multiple System Atrophy - Cerebellar Subtype (MSA-C); Multiple System Atrophy (MSA) With Orthostatic Hypotension

Keywords

genetic study; Progressive Supranuclear Palsy; Multiple System Atrophy; Corticobasal; CurePSP; PSP; MSA; CBD; Genes

Outcome Measures

Primary Outcomes (1)

• 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.

  5 years

Study Arms (1)

CurePSP Genetics Program

Adults with PSP, CBD or MSA

Other: Whole genome sequencing will be performed at the NIH

Interventions

Whole genome sequencing will be performed at the NIH OTHER

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.

CurePSP Genetics Program

Eligibility Criteria

• Age: 35 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults with PSP, CBD/CBS or MSA

You may qualify if:

• Adults (aged 35 or older) with a clinical diagnosis of PSP, CBS, MSA, or a related neurological disease as confirmed by their healthcare provider, or unaffected family members of participants who have reported a family history of relevant neurodegenerative conditions.
• Meet Movement Disorder Society (MDS) Clinical Diagnostic Criteria for Possible or Probable PSP (32), clinically established or clinically probable MSA (33), Armstrong criteria (2013) for possible or probable CBS (34). Diagnostic certainty will be determined by the treating/referring clinician.
• Willingness to undergo genetic testing. Participants will have the option to receive relevant genetic test results.
• Have the capacity to give full informed consent in writing or electronically, or provide consent through a legally authorized representative (LAR)/power of attorney (POA), and have read, understood, and completed the informed consent form.
• Are able to perform or have a designee who can perform study activities (including completion of either online or orally administered surveys).

You may not qualify if:

• Individuals who have received a blood transfusion within the past 3 months.
• Individuals who have active hematologic malignancies such as lymphoma or leukemia.
• Individuals who have had a bone marrow transplant within the past 5 years.
• Individuals under the age of 35 or age of majority in applicable states at the time of consenting.

Sponsors & Collaborators

• CurePSP Foundation: collaborator
• Massachusetts General Hospital: lead
• National Institutes of Health (NIH): collaborator

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

RECRUITING

Related Publications (4)

• Jabbari E, Koga S, Valentino RR, Reynolds RH, Ferrari R, Tan MMX, Rowe JB, Dalgard CL, Scholz SW, Dickson DW, Warner TT, Revesz T, Hoglinger GU, Ross OA, Ryten M, Hardy J, Shoai M, Morris HR; PSP Genetics Group. Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study. Lancet Neurol. 2021 Feb;20(2):107-116. doi: 10.1016/S1474-4422(20)30394-X. Epub 2020 Dec 17.

  PMID: 33341150 BACKGROUND

• Chen JA, Chen Z, Won H, Huang AY, Lowe JK, Wojta K, Yokoyama JS, Bensimon G, Leigh PN, Payan C, Shatunov A, Jones AR, Lewis CM, Deloukas P, Amouyel P, Tzourio C, Dartigues JF, Ludolph A, Boxer AL, Bronstein JM, Al-Chalabi A, Geschwind DH, Coppola G. Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. Mol Neurodegener. 2018 Aug 8;13(1):41. doi: 10.1186/s13024-018-0270-8.

  PMID: 30089514 BACKGROUND

• Hoglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Muller U, Schellenberg GD. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859.

  PMID: 21685912 BACKGROUND

• Rohrer JD, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN. Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis. 2011;8(3):149-52. doi: 10.1159/000319454. Epub 2010 Sep 14.

  PMID: 20838030 BACKGROUND

Related Links

• Related Info

Biospecimen

Retention: SAMPLES WITH DNA

DNA from whole blood

MeSH Terms

Conditions

Supranuclear Palsy, Progressive; Corticobasal Degeneration; Shy-Drager Syndrome; Multiple System Atrophy; Multiple system atrophy (MSA) with orthostatic hypotension

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Ophthalmoplegia; Ocular Motility Disorders; Cranial Nerve Diseases; Tauopathies; Neurodegenerative Diseases; Paralysis; Neurologic Manifestations; Eye Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Primary Dysautonomias; Autonomic Nervous System Diseases; Hypotension; Vascular Diseases; Cardiovascular Diseases; Synucleinopathies

Central Study Contacts

MGH Research Coordinators

CONTACT

617-643-2400; mghpsp@partners.org

CurePSP Hope Line

CONTACT

800-457-4777; info@curepsp.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, CurePSP Center of Care

Study Record Dates

• First Submitted: October 16, 2024
• First Posted: October 18, 2024
• Study Start: October 8, 2024
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2030
• Last Updated: January 14, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• 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.

Locations

US (1)