Help us better understand the natural history of MSP
Recruiting patients
Study Name
CReATe Consortium: Natural history of multisystem proteinopathy
PI
Lindsay N Alfano, DPT (Nationwide Children's Hospital)
Tahseen Mozaffar, MD (University of California, Irvine)
Conrad “Chris” Weihl, MD/PhD (Washington University)
Michael Benatar, MD, PhD (University of Miami)
Tahseen Mozaffar, MD (University of California, Irvine)
Conrad “Chris” Weihl, MD/PhD (Washington University)
Michael Benatar, MD, PhD (University of Miami)
Study Type
Natural History
Eligible Population
- Pathogenic variant in a gene associated with MSP (e.g. VCP, HNRNPA2B1, SQSTM1), with or without symptoms
- Age 18 years or older at time of enrollment
- Able and willing to comply with study procedures
Study Purpose/Goals
- Better understand the natural history of MSP and how evolving phenotypes impact functional outcome measures
- Establish a biorepository for future biomarker discovery
Procedures/Participation
5 study visits ~6 months apart and alternating in-person and remote (for a total of 3 in-person and 2 remote visits over 24 month period), with the option of continuing with additional annual in-person visits
Study visits entail:
– Family and medical history review
– Neurological examination
– Breathing test
– Motor function testing
– Questionnaires/surveys
– Neuropsychological assessment
– Electromyography (EMG) and nerve conduction studies (NCS)
– Blood and urine collection
– Optional: cerebrospinal fluid (CSF) collection and muscle biopsy
Contact
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