The CurePSP Genetics Program

Mass General Brigham

Status

Enrolling

Conditions

Corticobasal Syndrome (CBS)

Corticobasal Degeneration (CBD)

Progressive Supranuclear Palsy (PSP)

Corticobasal Syndrome

PSP - Progressive Supranuclear Palsy

Progressive Supranuclear Palsy

MSA

Multiple System Atrophy - Parkinsonian Subtype (MSA-P)

MSA-C

Progressive Supranuclear Palsy(PSP)

Multiple System Atrophy

Multiple System Atrophy (MSA) With Orthostatic Hypotension

Multiple System Atrophy - Cerebellar Subtype (MSA-C)

PSP

MSA - Multiple System Atrophy

Corticobasal Degeneration

Corticobasal Syndrome(CBS)

Corticobasal Degeneration Syndrome

Multiple System Atrophy, Cerebellar Type

Multiple System Atrophy, Parkinsonian Type

Treatments

Other: Whole genome sequencing will be performed at the NIH

Study type

Observational

Funder types

Other

NIH

Identifiers

NCT06647641

2024P001971

Details and patient eligibility

About

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.

Full description

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.

Enrollment

1,000 estimated patients

Sex

All

Ages

35+ years old

Volunteers

Accepts Healthy Volunteers

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.