Actively Recruiting
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
Led by Dr. Rebecca Schule · Updated on 2021-05-19
2000
Participants Needed
13
Research Sites
104 weeks
Total Duration
On this page
Sponsors
D
Dr. Rebecca Schule
Lead Sponsor
G
German Federal Ministry of Education and Research
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are conducting a prospective multicenter natural history study to understand the range and progression of Hereditary Spastic Paraplegias (HSP) and related disorders. The study aims to identify digital, imaging, and molecular biomarkers that may help in diagnosis and therapy development, as well as explore the genetic causes and molecular mechanisms of these diseases. Participants affected by HSP or related disorders, their unaffected first or second-degree family members, and unrelated healthy controls will be followed annually. Each study visit includes a standardized clinical examination with clinical rating scales to measure disease severity and progression. Participants may also provide biosamples such as blood, urine, cerebrospinal fluid, or skin biopsies, and may undergo additional tests like imaging, movement analysis, neuropsychological exams, and advanced genetic sequencing if no genetic diagnosis exists. Throughout the study, data will be collected and entered into a clinical database. Researchers will monitor changes in the Spastic Paraplegia Rating Scale (SPRS) total score over up to two years. Participants can expect regular assessments, optional biosampling, and comprehensive evaluations to track disease features and progression over time. The study is planned to continue until August 2041.
CONDITIONS
Brief Title
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis or clinical suspicion of hereditary spastic paraplegia (HSP) or a related disorder for primary participants
- Unaffected first or second-degree family member of a primary participant able to give informed consent
- Unrelated healthy individuals able to give informed consent
- Willingness and ability to comply with study procedures
- Written informed consent provided
You will not qualify if you...
- Missing informed consent from participant or legal representative
- For healthy controls: presence of neurodegenerative disease or movement disorders
- Inability to provide informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to several weeks depending on testing process
Participants without a genetic diagnosis may undergo genetic testing including whole exome or whole genome sequencing and other molecular analyses.
1 visit for genetic sample collection
Duration - Up to 20 years
Participants are seen annually for standardized clinical examinations, including application of clinical rating scales, optional biosample collection, and additional optional assessments such as imaging and neuropsychological exams to monitor disease progression and phenotype.
Annual visits for up to 20 years
Trial Site Locations
Total: 13 locations
1
University Innsbruck
Innsbruck, Austria, 6020
Actively Recruiting
2
German Center for Neurodegenerative Diseases (DZNE) Bonn
Bonn, Germany, 53127
Actively Recruiting
3
University of Erlangen
Erlangen, Germany, 91054
Actively Recruiting
4
University Medicine Essen
Essen, Germany, 45147
Actively Recruiting
5
University Göttingen
Göttingen, Germany, 37075
Actively Recruiting
6
University Heidelberg
Heidelberg, Germany, 69120
Not Yet Recruiting
7
University of Lübeck
Lübeck, Germany, 23562
Not Yet Recruiting
8
German Center for Neurogedenerative Diseases (DZNE) Magdeburg
Magdeburg, Germany, 39120
Actively Recruiting
9
German Center for Neurodegenerative Diseases (DZNE) München
München, Germany, 80336
Actively Recruiting
10
University of Regensburg
Regensburg, Germany, 93053
Not Yet Recruiting
11
German Center for Neurodegenerative Diseases (DZNE) Rostock
Rostock, Germany, 18147
Not Yet Recruiting
12
University of Tübingen and German Center for Neurodegenerative Diseases (DZNE) Tübingen
Tübingen, Germany, 72076
Actively Recruiting
13
IRCCS Medea Scientific Institute, Conegliano-PIeve di Soligo Research Centre
Pieve di Soligo, Italy, 31053
Not Yet Recruiting
Research Team
R
Rebecca Schüle, PD Dr.
L
Ludger Schöls, Prof. Dr.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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