The CurePSP Genetics Program

Launched by MASSACHUSETTS GENERAL HOSPITAL · Oct 16, 2024

Keywords

ClinConnect Summary

The CurePSP Genetics Program is a research study aimed at understanding the genetic factors related to certain neurological conditions like Progressive Supranuclear Palsy (PSP), Corticobasal Syndrome (CBS), and Multiple System Atrophy (MSA). The study will enroll up to 1,000 adults who have been diagnosed with one of these conditions or are family members of affected individuals. Participants will provide a blood sample for genetic testing, which will help identify any genetic changes that may be linked to these diseases. The study is low-risk and aims to gather valuable information that could lead to better understanding and treatment of these conditions.

To be eligible, participants need to be 35 years or older and have a confirmed diagnosis of PSP, CBS, or MSA, or be a family member of someone who does. They must also be willing to undergo genetic testing and can choose to receive their results. Participants will complete some surveys and may communicate with the study team either online or by phone. It's important to note that individuals who have had recent blood transfusions, certain cancers, or bone marrow transplants are not eligible for this study. Overall, this trial is an important step in advancing research for these challenging neurological conditions.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. 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.
• • 2. 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.
• • 3. Willingness to undergo genetic testing. Participants will have the option to receive relevant genetic test results.
• • 4. 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.
• • 5. Are able to perform or have a designee who can perform study activities (including completion of either online or orally administered surveys).
• Exclusion Criteria:
• • 1. Individuals who have received a blood transfusion within the past 3 months.
• • 2. Individuals who have active hematologic malignancies such as lymphoma or leukemia.
• • 3. Individuals who have had a bone marrow transplant within the past 5 years.
• • 4. Individuals under the age of 35 or age of majority in applicable states at the time of consenting.