Health TrialsbyHealthPanel

The CurePSP Genetics Program

ConditionsPSPPSP - Progressive Supranuclear PalsyCorticobasal SyndromeCorticobasal Syndrome(CBS)Corticobasal Degeneration SyndromeCorticobasal DegenerationCorticobasal Degeneration (CBD)Corticobasal Syndrome (CBS)MSAMSA - Multiple System AtrophyMSA-CMultiple System AtrophyMultiple System Atrophy (MSA) With Orthostatic HypotensionMultiple System Atrophy - Cerebellar Subtype (MSA-C)Multiple System Atrophy - Parkinsonian Subtype (MSA-P)Multiple System Atrophy, Cerebellar TypeMultiple System Atrophy, Parkinsonian TypeProgressive Supranuclear PalsyProgressive Supranuclear Palsy(PSP)Progressive Supranuclear Palsy (PSP)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age35+
SponsorMassachusetts General Hospital

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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.

Disqualifiers

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.

Trial population

Adults with PSP, CBD/CBS or MSA

Trial design

Design model

Cohort

Time perspective

Cross-sectional

Treatments tested in this trial

  • Whole genome sequencing will be performed at the NIH

    Other intervention

    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.

Treatment groups

1,000 Participants
are divided into 1 treatment group
Group A: CurePSP Genetics Program1 intervention

Trial outcomes

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.

Time frame
5 years

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Massachusetts General Hospital

Lead sponsor

CurePSP Foundation

Collaborator

National Institutes of Health (NIH)

Collaborator

Source ClinicalTrials.gov
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