Is this study prospective or retrospective? 

Both 

Is there any cost associated with participation?

Participation in the YGSA research study is free. However, the YGSA research study should be considered separate from any ongoing clinical care or pursuit of medical second opinions. If patients or families are traveling to Boston for research participation, travel would be an out-of-pocket expense. While we are happy to assist in contacting clinical schedulers and organizing medical second opinions within MGH to the best of our ability, any clinical appointments would require a referral from the patient’s PCP and any visits or resultant clinical studies are not part of the research study thus would be billed via standard routes.

Who can enroll in this study? Is there a maximum number of participants? 

Anyone with a confirmed COL4A1/A2  diagnosis can participate. We aim to include as many participants as possible, both in the United States and outside of the United States, to strengthen our data and make findings more representative of the community. There is no strict participation limit. 

What if I can’t travel to be seen in person at MGH? Can I still participate?

Yes! If travel isn’t feasible, you can still:

• Submit existing medical records

• Participate in virtual assessments where applicable

• Arrange for local sample collection and submission

  *For individuals traveling out of state to participate in in-person second opinion visits, it is highly recommended to check insurance coverage beforehand.

• Verify coverage with your insurance provider to ensure that consultations, imaging, and testing at the designated medical facility are covered under your plan.

• Confirm network status—some hospitals may be considered out-of-network, leading to higher out-of-pocket costs.

• Obtain referrals or prior authorization if required by your insurance plan to avoid unexpected expenses.

• Ask about financial assistance programs—some institutions may offer aid or research-related coverage for eligible participants.

What are participants requested to provide for this study? 

Participants will be requested to providing consent for your medical records to be shared with the research team. Blood and skin cell samples are optional and can be given at MGH, or arranged locally for sample collection.  

How will my records or samples be used to gather vital data and further research?

Your medical records and biological samples contribute to:

• Understanding disease mechanisms at a genetic and cellular level.

• Identifying biomarkers for disease severity and progression.

• Evaluating potential therapeutic approaches.

• Refining diagnostic criteria and clinical guidelines.

Where do my records go after submission?

Once submitted, your records are securely stored in our research database. Data is accessible only to our research team working on this study and their collaborators. Data is analyzed in aggregate form to:

• Recognize patterns in disease progression

• Identify potential treatment targets

• Support clinical guideline development

• Contribute to future therapeutic trials

Who will patient data be shared with, and how is it used?

Patient de-identified data is shared securely with:

• Clinicians and researchers working to advance COL4A1/A2 research

• Global research networks collaborating on similar genetic conditions

• Publications and medical guidelines (de-identified data) to inform best practices
  Data will never be sold or used for purposes unrelated to medical research.

what is the time period for collected data being shared with the community?

We aim for transparency but must ensure data integrity and privacy. Typically, preliminary findings are shared within 3-4 years, with major research conclusions published as they become available.

How often are patient follow-up for this study?

Follow-up frequency depends on study design and disease progression. Some participants may have annual check-ins, while others may be contacted more frequently depending on emerging findings or clinical need.

What if I have already participated in Dr Vassar’s UCSF COL4A1/2 Natural History Study?

If you have already seen certain specialists—like Dr. Vassar—your records may have already been sent and received by the team at UCSF. However, if you haven’t, you can still participate by enrolling in the Young Genetic Stroke Alliance study at MGH, and rest assured we share data with Dr. Vassar. 

How do I enroll in The Youth Genetic Stroke Alliance: A Natural History with Biomarkers of Hereditary Cerebrovascular Disorders, led by Dr. Musolino at MGH? 

Research coordinators in the Musolino Lab support families affected by COL4A1/A2-related disorders by facilitating access to research study enrollment. Reaching out to the research team is free of charge and does not require participation in the study. Please reach out the team via: musolinolab@mgh.harvard.edu.

Dr. Musolino and her colleagues offer second opinions for patients with COL4A1/A2-related syndromes, and her team can connect families with a specialized multidisciplinary team at MGH as needed. In addition to coordinating the research program, we support families who are seeking second medical opinions or hoping to establish ongoing care at MGH (regardless of optional participation in this Natural History research study).

Please note that a referral—typically from the family’s primary care provider—is required when seeking a second opinion or initiating care with our team, regardless of study participation. Our research coordinator team is available to help guide families through these initial logistical steps as below. Whether families pursue clinical care, research participation, or both, they will receive the same compassionate and dedicated support.

Our research team can:

• Assist with consenting in YGSA and enrolling in the Natural History Study (including sharing of medical records and imaging; if applicable biological sample collection).

• Meet with families enrolled in YGSA via Zoom to review symptoms, clinical history, and care needs.

• Guide families in creating an MGH Medical Record Number and assisting the families with requesting records and imaging from local providers.

• Help coordinate appointment scheduling with MGH providers by connecting subspecialty clinical scheduling teams and patients.

• Meet with families via Zoom for an intake meeting to review symptoms, medical history, and specific needs.

• Assist with consenting and enrolling in their Natural History (NH) study, which involves gathering detailed medical records, imaging, and, if applicable, biological samples.

• While families are primarily responsible for creating a Medical Record Number at MGH and requesting medical records from their local providers, we offer support throughout the process to help ensure a comprehensive chart is established at MGH.

• Relay patient information to the MGH team, ensuring patient cases are thoroughly reviewed by specialists.

• While families will primarily reach out to providers to request appointments, we offer coordination and assistance in scheduling with MGH clinicians to support and guide patients in their clinical care.