Hereditary Spastic ParaplegiaHSP-PBPNCT03981276
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
An observational study of Hereditary Spastic Paraplegia, run by Dr. Rebecca Schule at 13 sites in 3 countries.
Trial summary
The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Hereditary Spastic Paraplegia
- What is being tested?
- Clinical rating scale to measure disease severity and progression and Next-Gen Sequencing (NGS)
- How many people
- 2,000 participants
- Where
- 13 sitesin 3 countries
- Study dates
- 14 Oct 2019to Aug 2041
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Probands with a clinical or genetic diagnosis of an HSP and related disorders including pre-manifest individuals will be primarily enrolled in this study (primary participants). Additionally, unaffected family members of primary participants will be enrolled if they are of legal age (>= 18 years) and able to give informed consent (secondary participants). Unaffected minors will only be enrolled under special circumstances as detailed in paragraph 5.1 (Special Populations - Unaffected minors). Lastly, healthy unrelated controls will be enrolled; these are necessary to contrast unspecific, gender- or age-related findings to disease specific findings.
Who may be able to join
- One of the following:
- Primary participant: Clinical or genetic diagnosis of HSP or a related disorder
- Secondary participant: Unaffected family member (1st or 2nd degree relative) of primary participant (with the above-mentioned restrictions for special populations) able to give informed consent
- Unrelated healthy control able to give informed consent
- AND
- Written informed consent
- AND
- Participants are willing and able to comply with study procedures
Who cannot join
- Missing informed consent of primary or secondary participant/ healthy control/ legal representatives
- For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent
Trial locations and contacts
13 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
13 sites in 3 countries
Germany11 sites, 11 recruiting
- Recruiting
German Center for Neurodegenerative Diseases (DZNE) Bonn
Bonn, 53127
Thomas Klockgether, +49 228 28715726, Thomas.Klockgether@dzne.de
Thomas Klockgether, MD
- Recruiting
University of Erlangen
Erlangen, 91054
Susanne Seifert, +49 9131 85 44751, susanne.seifert@uk-erlangen.de
Pia-Marie Pryssok, +49 9131 85 44751, pia-marie.pryssok@uk-erlangen.de
- Recruiting
University Medicine Essen
Essen, 45147
Sylwia Kante, +49 201 - 7236513, sylwia.kante@uk-essen.de
Stephan Klebe, MD
- Recruiting
University Göttingen
Göttingen, 37075
Anja Schadenberg, +49 551 39 10206, aschadenberg@med.uni-goettingen.de
Michael Sereda, MD
- Not yet recruiting
University Heidelberg
Heidelberg, 69120
Heike Jacobi, +49 6221 - 56 - 7510, Heike.Jacobi@med.uni-heidelberg.de
Heike Jacobi, MD
- Not yet recruiting
University of Lübeck
Lübeck, 23562
Maike Dümcke-Zilian, +49 451 3101 8215, maike.duemcke-zilian@neuro.uni-luebeck.de
Alexander Münchau, MD
- Recruiting
German Center for Neurogedenerative Diseases (DZNE) Magdeburg
Magdeburg, 39120
Michaela Butryn, +49 391-67-13431, michaela.butryn@med.ovgu.de
Stefan Vielhaber, MD
- Recruiting
German Center for Neurodegenerative Diseases (DZNE) München
München, 80336
Jasmina Al-Tamami, +49 89 4400 57425, jasmina.altamami@med.uni-muenchen.de
Thomas Klopstock, MD
- Not yet recruiting
University of Regensburg
Regensburg, 93053
Zacharias Kohl, +49 941 941 3074, zacharias.kohl@ukr.de
Zacharias Kohl, MD
- Not yet recruiting
German Center for Neurodegenerative Diseases (DZNE) Rostock
Rostock, 18147
Christoph Kamm, +49 381 4944763, christoph.kamm@med.uni-rostock.de
Christoph Kamm, MD
- Recruiting
University of Tübingen and German Center for Neurodegenerative Diseases (DZNE) Tübingen
Tübingen, 72076
Katrin Dillmann, +49 7071 29 85653, katrin.dillmann@med.uni-tuebingen.de
Rebecca Schüle, MD
Austria1 site, 1 recruiting
- Recruiting
University Innsbruck
Innsbruck, 6020
Matthias Amprosi, +43 512 504 83686, matthias.amprosi@i-med.ac.at
Sylvia Bösch, +43 512 504 83686, sylvia.boesch@i-med.ac.at
Italy1 site, 1 recruiting
- Not yet recruiting
IRCCS Medea Scientific Institute, Conegliano-PIeve di Soligo Research Centre
Pieve di Soligo, 31053
Andrea Martinuzzi, MD, 0438 414337, andrea.martinuzzi@lanostrafamiglia.it
Andrea Martinuzzi, MD
About this study
The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.
Read the detailed description
The investigators will perform a registry-based standardized prospective Natural History Study (NHS) in HSPs and related disorders. Participants will be seen annually. At study visits a standardized clinical examination will be performed including application of clinical rating scales (selection of rating scales may vary depending on the individual phenotype and specific genotype); data will be entered into a clinical database (HSP Registry; https://www.hsp-registry.net). At all study visits, patients will be asked to donate biosamples; biomaterial collection is optional and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy.
Optionally, additional examinations may be performed including imaging, quantitative movement analysis, neuropsychological examinations, analysis of patient or observer reported outcomes and OMICS analysis to characterize molecular biomarkers.
In participants without a genetic diagnosis, next generation sequencing may be performed.
- Conditions
- Hereditary Spastic Paraplegia
- Being tested
- Clinical rating scale to measure disease severity and progression, Next-Gen Sequencing (NGS)
- Keywords
- Hereditary Spastic Paraplegia, Biomarker, Genetic etiology, Molecular mechanisms
- Medical subject headings
- Spastic Paraplegia, Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Clinical rating scale to measure disease severity and progressionOther
Also called Spastic Paraplegia Rating Scale (SPRS)
A 13-item scale to rate functional impairment occurring in pure forms of spastic paraplegia (SP). Additional symptoms constituting a complicated form of SP are recorded in an inventory.
Next-Gen Sequencing (NGS)Diagnostic test
Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
| Study group | Role | What they receive |
|---|---|---|
| Primary participant: | Participants affected by hereditary spastic paraplegia (HSP) or a phenotypically related disorder Primary participants will be followed at annual intervals. The workup includes clinical, imaging, sensor-based, patient/observer reported and molecular outcome parameters and biosampling.
Participants with unknown genetic diagnosis may receive genetic testing including whole exome or whole genome sequencing and other OMICS techniques. Receives: Other: Clinical rating scale to measure disease severity and progression; Diagnostic Test: Next-Gen Sequencing (NGS) | |
| Secondary participant/ First or second-degree | First or second degree unaffected family members of primary participants. Secondary participants may undergo the same study procedures as primary participants. Receives: Diagnostic Test: Next-Gen Sequencing (NGS) | |
| Unrelated healthy control | Unrelated healthy controls Healthy controls may undergo the same study procedures as primary participants. Receives: Diagnostic Test: Next-Gen Sequencing (NGS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline of Spastic Paraplegia Rating Scale (SPRS) total score at 2 years
Disease severity will be assessed by application of the Spastic Paraplegia Rating Scale (SPRS), a clinical rating scale measuring disease severity in Hereditary Spastic Paraplegia (Schüle et al. Neurology 2006). The SPRS contains 13 items, each ranging from 0 to 4 points. The total score is calculated as the sum of all items, yielding a range for the total score between 0 and 52. Hereby, higher SPRS total scores indicate more severe disease.
Measured: up to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2019
- Study start14 Oct 2019
- Primary completionAug 2039 (estimated)
- Study completionAug 2041 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Spastic ParaplegiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- Dr. Rebecca Schule
- Sponsor type
- University, hospital or other
- Collaborators
- German Federal Ministry of Education and Research, German Center for Neurodegenerative Diseases (DZNE)
- Responsible party
- Sponsor-investigator, Dr. Rebecca Schule, University Hospital Tuebingen
- Investigators
- Rebecca Schüle, PD Dr., Principal investigator, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03981276
- Sponsor's protocol ID
- HSP-PBP
- Other IDs
- 01GM1905
- Acronym
- HSP-PBP
- Status last verified
- May 2021
- First submitted
- 4 Jun 2019
- Last updated
- 19 May 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
- ClinicalTrials.gov ID
- NCT03981276
- Acronym / sponsor ID
- HSP-PBP / HSP-PBP
- Conditions
- Hereditary Spastic Paraplegia
- Keywords
- Hereditary Spastic Paraplegia, Biomarker, Genetic etiology, Molecular mechanisms
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Dr. Rebecca SchuleUniversity, hospital or other
- Collaborators
- German Federal Ministry of Education and Research, German Center for Neurodegenerative Diseases (DZNE)
- Study start
- 14 Oct 2019 (actual)
- Primary completion
- Aug 2039 (estimated)
- Study completion
- Aug 2041 (estimated)
- First posted
- 10 Jun 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.
Detailed description
The investigators will perform a registry-based standardized prospective Natural History Study (NHS) in HSPs and related disorders. Participants will be seen annually. At study visits a standardized clinical examination will be performed including application of clinical rating scales (selection of rating scales may vary depending on the individual phenotype and specific genotype); data will be entered into a clinical database (HSP Registry; https://www.hsp-registry.net). At all study visits, patients will be asked to donate biosamples; biomaterial collection is optional and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy.
Optionally, additional examinations may be performed including imaging, quantitative movement analysis, neuropsychological examinations, analysis of patient or observer reported outcomes and OMICS analysis to characterize molecular biomarkers.
In participants without a genetic diagnosis, next generation sequencing may be performed.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 20 Years
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Primary participant: | – | Other: Clinical rating scale to measure disease severity and progression, Diagnostic Test: Next-Gen Sequencing (NGS)Participants affected by hereditary spastic paraplegia (HSP) or a phenotypically related disorder Primary participants will be followed at annual intervals. The workup includes clinical, imaging, sensor-based, patient/observer reported and molecular outcome parameters and biosampling. Participants with unknown genetic diagnosis may receive genetic testing including whole exome or whole genome sequencing and other OMICS techniques. |
| Secondary participant/ First or second-degree | – | Diagnostic Test: Next-Gen Sequencing (NGS)First or second degree unaffected family members of primary participants. Secondary participants may undergo the same study procedures as primary participants. |
| Unrelated healthy control | – | Diagnostic Test: Next-Gen Sequencing (NGS)Unrelated healthy controls Healthy controls may undergo the same study procedures as primary participants. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Probands with a clinical or genetic diagnosis of an HSP and related disorders including pre-manifest individuals will be primarily enrolled in this study (primary participants). Additionally, unaffected family members of primary participants will be enrolled if they are of legal age (>= 18 years) and able to give informed consent (secondary participants). Unaffected minors will only be enrolled under special circumstances as detailed in paragraph 5.1 (Special Populations - Unaffected minors). Lastly, healthy unrelated controls will be enrolled; these are necessary to contrast unspecific, gender- or age-related findings to disease specific findings.
Key inclusion criteria (8 listed)
- One of the following:
- AND
- Written informed consent
- AND
- Participants are willing and able to comply with study procedures
Key exclusion criteria (2 listed)
- Missing informed consent of primary or secondary participant/ healthy control/ legal representatives
- For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Clinical rating scale to measure disease severity and progressionAlso: Spastic Paraplegia Rating Scale (SPRS)A 13-item scale to rate functional impairment occurring in pure forms of spastic paraplegia (SP). Additional symptoms constituting a complicated form of SP are recorded in an inventory. | Other | Primary participant: |
| Next-Gen Sequencing (NGS)Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics | Diagnostic test | Primary participant:, Secondary participant/ First or second-degree, Unrelated healthy control |
Primary outcome
Change from baseline of Spastic Paraplegia Rating Scale (SPRS) total score at 2 years
Time frame: up to 2 years
Disease severity will be assessed by application of the Spastic Paraplegia Rating Scale (SPRS), a clinical rating scale measuring disease severity in Hereditary Spastic Paraplegia (Schüle et al. Neurology 2006). The SPRS contains 13 items, each ranging from 0 to 4 points. The total score is calculated as the sum of all items, yielding a range for the total score between 0 and 52. Hereby, higher SPRS total scores indicate more severe disease.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 May 2021.
- Website of the TreatHSP consortiumLink provided by the sponsor.
- Website of the HSP RegistryLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Rebecca Schüle, PD Dr. principal investigator
University Hospital Tuebingen
13 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Spastic Paraplegia, run by Dr. Rebecca Schule at 13 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 19 May 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites in Germany, Austria, Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Rebecca Schüle, PD Dr. (+49 7071 29 ext. 85653, rebecca.schuele-freyer@uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from baseline of Spastic Paraplegia Rating Scale (SPRS) total score at 2 years (time frame: up to 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 May 2021.