Hereditary Spastic Paraplegia Genomic Sequencing Initiative
Baseline Assessment: Help study team establish a comprehensive understanding of your medical history, family history, symptoms, and functional abilities.
Follow-Up Assessments: Help study team update an understanding of your medical history, family history, symptoms, and functional abilities.
Return of Results: Return clinically confirmed results you requested to receive.
- Welcome and Introduction 15 minutes
- Introduce the study team, family, and interpreter (if needed)
- Review the Informed Consent Form
- Preview the virtual visit & study participation, including overall workflow
- Standardized Clinical Questionnaire / Interview 45 minutes
- Medical & Family History
- Review past and current medical issues
- Discuss family history related to the primary concern
- Symptom & Function Assessment
- Discuss mobility and other neurological symptoms
- Discuss functional impact on daily activities
- Virtual Physical Examination 15 minutes
- Assess motor function and mobility under guidance of study clinician
- Evaluate muscle tone and spasticity through movement-based tasks under guidance of study clinician
- Research Updates, Remaining Questions, and Next Steps 10 minutes
- If applicable, study team will provide information about the state of research related to the primary concern, genetic testing, or our specific study
- Family is invited to raise any remaining questions or concerns
- Review of action items following this study visit
- Please ensure you have:
- a stable internet connection
- a properly functioning Zoom setup
Total Estimated Time: 1 hour 30 minutes
- Welcome and Introduction 5 minutes
-
- Introduce the study team, family, and interpreter (if needed)
- Preview the virtual visit & study participation, including overall workflow
- Standardized Clinical Questionnaire / Interview 45 minutes
-
- Medical & Family History
- Review past and current medical issues
- Discuss family history related to the primary concern
- Symptom & Function Assessment
- Discuss mobility and other neurological symptoms
- Discuss functional impact on daily activities
- Medical & Family History
- Virtual Physical Examination 15 minutes
-
- Assess motor function and mobility under guidance of study clinician
- Evaluate muscle tone and spasticity through movement-based tasks under guidance of study clinician
- Research Updates, Remaining Questions, and Next Steps 10 minutes
-
- If applicable, study team will provide information about the state of research related to the primary concern, genetic testing, or our specific study
- Family is invited to raise any remaining questions or concerns
- Review of action items following this study visit
Total Estimated Time: 1 hour 15 minutes
- Welcome and Introduction 5 minutes
-
- Introduce the study team, family, and interpreter (if needed)
- Preview the virtual visit & study participation
- Return of Clinically Confirmed Results 15 minutes
-
- Genetic Report
- Review variant pathogenicity & (non)diagnostic status
- Review gene function or associated conditions, if known
- Review inheritance
- Implications
- Discuss implications for other family members, if applicable
- Recommend services, specialities, or interventions for the family to discuss with healthcare team, if appropriate
- Discuss prognosis based on current state of knowledge
- Genetic Report
- Research Updates, Remaining Questions, and Next Steps 10 minutes
-
- If applicable, study team will provide information about the state of research related to the diagnosis, genetic testing, our specific study, or studies the family may be eligible for
- Family is invited to raise any remaining questions or concerns
- Review of action items following this study visit
Total Estimated Time: 30 minutes