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NCT Number: NCT06647641

The CurePSP Genetics Program

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.

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Key information

Conditions

PSP Autonomic Nervous System Diseases Basal Ganglia Diseases Brain Diseases Cardiovascular Diseases Central Nervous System Diseases Corticobasal Degeneration Corticobasal Degeneration (CBD) Corticobasal Degeneration Syndrome Corticobasal Syndrome Corticobasal Syndrome (CBS) Corticobasal Syndrome(CBS) Cranial Nerve Diseases Eye Diseases Hypotension MSA MSA - Multiple System Atrophy MSA-C Movement Disorders Multiple System Atrophy Multiple System Atrophy (MSA) With Orthostatic Hypotension Multiple System Atrophy - Cerebellar Subtype (MSA-C) Multiple System Atrophy - Parkinsonian Subtype (MSA-P) Multiple System Atrophy, Cerebellar Type Multiple System Atrophy, Parkinsonian Type Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Ocular Motility Disorders Ophthalmoplegia PSP - Progressive Supranuclear Palsy Paralysis Pathological Conditions, Signs and Symptoms Primary Dysautonomias Progressive Supranuclear Palsy Progressive Supranuclear Palsy (PSP) Progressive Supranuclear Palsy(PSP) Shy-Drager Syndrome Signs and Symptoms Supranuclear Palsy, Progressive Synucleinopathies Tauopathies Vascular Diseases

Age range

35 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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).

Exclusion criteria

  • 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.

Treatment and study plan

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.

Primary outcomes

  1. Whole genome sequencing

    Time frame: 5 years

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

CurePSP Hope Line

CONTACT

[email protected]

800-457-4777

MGH Research Coordinators

CONTACT

[email protected]

617-643-2400

Sponsors and collaborators

Lead sponsor

Massachusetts General Hospital

Other

Collaborators

  • CurePSP Foundation
  • National Institutes of Health (NIH)

Registry information

Important dates

Study start
2024
Primary completion
2028
Study completion
2030
First posted
Oct 18, 2024
Registry last updated
Jan 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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