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

Status: Recruiting

Location: See all (13) locations...

Intervention Type: Diagnostic test, Other

Study Type: Observational

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.

Eligibility

Participation Requirements

Sex: All

Healthy Volunteers: t

View:

• 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

Locations

Other Locations

Austria

University Innsbruck

RECRUITING

Innsbruck

Germany

German Center for Neurodegenerative Diseases (DZNE) Bonn

RECRUITING

Bonn

University of Erlangen

RECRUITING

Erlangen

University Medicine Essen

RECRUITING

Essen

University Göttingen

RECRUITING

Göttingen

University Heidelberg

NOT_YET_RECRUITING

Heidelberg

University of Lübeck

NOT_YET_RECRUITING

Lübeck

German Center for Neurogedenerative Diseases (DZNE) Magdeburg

RECRUITING

Magdeburg

German Center for Neurodegenerative Diseases (DZNE) München

RECRUITING

München

University of Regensburg

NOT_YET_RECRUITING

Regensburg

German Center for Neurodegenerative Diseases (DZNE) Rostock

NOT_YET_RECRUITING

Rostock

University of Tübingen and German Center for Neurodegenerative Diseases (DZNE) Tübingen

RECRUITING

Tübingen

Italy

IRCCS Medea Scientific Institute, Conegliano-PIeve di Soligo Research Centre

NOT_YET_RECRUITING

Pieve Di Soligo

Contact Information

Primary

Rebecca Schüle, PD Dr.

rebecca.schuele-freyer@uni-tuebingen.de

+49 7071 29

Backup

Ludger Schöls, Prof. Dr.

ludger.schoels@uni-tuebingen.de

+49 7071 29

Time Frame

Start Date: 2019-10-14

Estimated Completion Date: 2041-08

Participants

Target number of participants: 2000

Treatments

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.

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.

Unrelated healthy control

Unrelated healthy controls Healthy controls may undergo the same study procedures as primary participants.

Related Therapeutic Areas

Spastic Paraplegia Type 7

Spasticity

Paraplegia

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