Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders

Hereditary Spastic Paraplegia Clinical Trial

— HSP-PBP  

Official title:

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03981276
• Other study ID #: HSP-PBP
• Secondary ID: 01GM1905
• Status: Recruiting
• Start date: October 14, 2019
• Est. completion date: August 2041

Study information

• Verified date: May 2021
• Source: University Hospital Tuebingen
• Contact: Rebecca Schüle, PD Dr.
• Phone: +49 7071 29
• Email: rebecca.schuele-freyer[@]uni-tuebingen.de
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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 genetic etiology and molecular mechanisms of these diseases.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: August 2041
• Est. primary completion date: August 2039
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion criteria:

• One of the following:

1. Primary participant: Clinical or genetic diagnosis of HSP or a related disorder

2. 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

3. Unrelated healthy control able to give informed consent

AND

• Written informed consent

AND

• Participants are willing and able to comply with study procedures

Exclusion criteria:

• 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

Related Conditions & MeSH terms

• Hereditary Spastic Paraplegia
• Muscle Spasticity
• Paraplegia
• Spastic Paraplegia, Hereditary

Intervention

Other:
• Clinical rating scale to measure disease severity and progression
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.

Diagnostic Test:
• Next-Gen Sequencing (NGS)
Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics

Locations

Country	Name	City	State
Austria	University Innsbruck	Innsbruck
Germany	German Center for Neurodegenerative Diseases (DZNE) Bonn	Bonn
Germany	University of Erlangen	Erlangen
Germany	University Medicine Essen	Essen
Germany	University Göttingen	Göttingen
Germany	University Heidelberg	Heidelberg
Germany	University of Lübeck	Lübeck
Germany	German Center for Neurogedenerative Diseases (DZNE) Magdeburg	Magdeburg
Germany	German Center for Neurodegenerative Diseases (DZNE) München	München
Germany	University of Regensburg	Regensburg
Germany	German Center for Neurodegenerative Diseases (DZNE) Rostock	Rostock
Germany	University of Tübingen and German Center for Neurodegenerative Diseases (DZNE) Tübingen	Tübingen
Italy	IRCCS Medea Scientific Institute, Conegliano-PIeve di Soligo Research Centre	Pieve di Soligo

Sponsors (3)

Lead Sponsor	Collaborator
Dr. Rebecca Schule	German Center for Neurodegenerative Diseases (DZNE), German Federal Ministry of Education and Research

Countries where clinical trial is conducted

Austria,  Germany,  Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	up to 2 years

External Links

•   Website of the HSP Registry
•   Website of the TreatHSP consortium