The Natural History Study
What is a natural history study?
A natural history study collects patient experiences to study the typical outcomes of a disease.
The study will also take patient samples to try to identify biomarkers. Biomarkers are levels of substances in the blood or tissues that correspond to the severity of the disease symptoms.
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 therapy development. They set a scientific baseline. That can help tell clinicians and researchers judge how severe a disorder is in a patient.
For example, as the disease progresses, something called “neurofilament levels” might go up. If we know that, then when we see a drug decreases those levels, we might help prove it’s working.
Also, although the FDA doesn’t require a natural history study for drug approval, it looks highly upon them.
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.
|Target Follow-Up Duration:||4 Years|
|Official Title:||Registry and Natural History Study |
for Early Onset Hereditary Spastic Paraplegia (HSP)
|Actual:||April 27, 2020|
|:||April 26, 2024|
|:||April 26, 2025|
Who sponsors the study and how do I join?
What if I live outside the US?
You can still join!
Dr. Darius is happy to meet children online via telehealth appointments and coordinate with your doctors if you decide you’d like to submit a blood sample.
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 science, 55(2), 370–377. https://doi.org/10.1007/s43441-020-00221-4
Last updated: 6/24/2022
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