Childhood Onset Survey 2022 Report - Flipbook - Page 13
Of those referred to the Study, the following graph shows the
representation of the HSP Types.
What is the status of the Natural History Study
As of January, 2023 the following was shared:
● 421 participants are enrolled in the Natural History Study
● As the Study originally focused on AP-4 subtypes, there are many
families representing SPG47, SPG 50, SPG51, and SPG52.
However, there are 25 gene types represented overall
● The majority of participants are from Europe and North America,
followed by the Middle East and North Africa. Every continent is
represented.
● Enrolling in the study can be virtual or in person and involves; an
initial interview, two questionnaires, an MRI and other optional steps
such as blood sample for biomarkers and there are follow-up
appointments every 6-9 months which again, can be virtual
● Challenges: questionnaires and follow-up visits.
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