Living with WMS, Partnerships, Research Highlights

The Natural History Studies for HSPs

What is a natural history study?

A natural history study collects patient experiences to study the course of a disease.

While the Warburg Micro Registry focuses on WMS specific symptoms, the Boston study focuses on all early onset Hereditary Spastic Paraplegias. It will also take and store patient samples to investigate the disease spectrum at the cell level.

What are the aims of the Boston early-onset study?

The study will:

                 1.  Examine the core clinical, imaging, and molecular features of pediatric onset hereditary spastic paraplegia.

                 2.  Define clinically meaningful endpoints for future interventional trials. 

                 3.  Collect samples for investigation that will help identify biomarkers and novel targets for therapy.

                 4.  Make clinical information and samples available to investigators around the world after approval.

Why is this study so important?

Natural history studies are important to therapeutic development because they set a scientific baseline. 

Although the FDA doesn’t require a natural history study for drug approval, it recommends them because they help scientists quantify patients’ symptoms and may identify markers that can be used to measure improvement.

Participation in this study by children with Warburg Micro is essential not only for the reasons listed in the previous section, but because it may help cement the disorder’s place in the world of early-onset spastic paraplegia research.

Study Design

Study Type  :Observational [Patient Registry]
Estimated Enrollment  :400 participants
Observational Model:Cohort
Time Perspective:Prospective
Target Follow-Up Duration:4 Years
Official Title:Registry and Natural History Study
for Early Onset Hereditary Spastic Paraplegia (HSP)
Actual Study Start Date  :April 27, 2020
Primary Completion Date  :April 26, 2024
Study Completion Date  :April 26, 2025

Who sponsors the study and how do I join?

The Natural History Study for Early Onset HSP is sponsored by Boston Children’s Hospital.

Use the contact information listed on the Clinical Trial website here.

What if I live outside the US?

The Phenotypes, Biomarkers and Pathophysiology  in Hereditary Spasitc Paraplegia and Related Disorders study is a Natural History Study that is currently recruiting in Austria and Germany. We haven’t been in touch with the study investigators, but Warburg Micro children are likely eligible.

Huml, R. A., Dawson, J., Bailey, M., Nakas, N., Williams, J., Kolochavina, M., & Huml, J. R. (2021). Accelerating Rare Disease Drug Development: Lessons Learned from Muscular Dystrophy Patient Advocacy Groups. Therapeutic innovation & regulatory science55(2), 370–377.

Last updated: 4/1/2022

Disclaimer: Families should consult a medical professional for genetic diagnosis, management and health concerns. We provide external links to help families and caregivers find additional information- this should not imply our endorsement or responsibility for their content.

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