Current clinical studies

Natural History of HSP

  • all TreatHSP outpatient clinics
  • all HSP subtypes
  • HSP patients
  • ≥ 10 years
  • annual follow-ups

Contact

Make an appointment

This study will only be conducted at the University of Tübingen. To ask for more information or make an appointment please contact the Tübingen study site: 

Centre for Neurology - Dept. of Neurodegenerative Diseases 

HSP Outpatient Clinic
attn. Katrin Dillmann
Hoppe-Seyler-Str. 3
72076 Tübingen
Germany

Email: katrin.dillmann@med.uni-tuebingen.de
Phone: +49 7071 29 85653

Study procedures

After we have informed you in detail about the study and you have given your written consent to participate in the study, we will take your blood and ask you to provide a urine sample. If you agree, we will also take a sample of your cerebrospinal fluid; however, this is not a prerequisite for participating in the study!

If possible, samples will be taken as part of your regular outpatient visit or while you visit us to participate in the study on the natural history of HSP. Follow-up examinations are planned at annual intervals.

The participation in this study is possible at all TreatHSP outpatient clinics.

Who can participate?

All HSP patients and their families are eligible to participate in this study. Genetic diagnosis is not a prerequisite for participation in the study.

Brief description

In order to conduct clinical trials, it is crucial to be able to reliably measure disease progression and a possible response to therapy. In addition to clinical measuring instruments such as the 'Spastic Paraplegia Rating Scale' (SPRS), laboratory values from blood, urine or cerebrospinal fluid can also be used to indicate the progression of the disease or a response to therapy. To date, such laboratory parameters (= molecular outcome parameters) for HSP have not been established, but will be identified in this study and their properties examined in the course of the disease.

Molecular Biomarkers for HSP

  • all TreatHSP outpatient clinics
  • all HSP subtypes
  • HSP patients
  • healthy family members
  • annual follow-ups

Contact

Make an appointment

To make an appointment to participate in this study, please contact the HSP outpatient clinic of your choice directly. An overview of the participating outpatient clinics and contact information can be found here

If you have general questions about the study, please feel free to contact the study coordinator at the University of Tübingen: 

 

Centre for Neurology - Dept. of Neurodegenerative Diseases 
HSP Outpatient Clinic
attn. Katrin Dillmann
Hoppe-Seyler-Str. 3
72076 Tübingen
Germany

Email: katrin.dillmann@med.uni-tuebingen.de
Phone: +49 7071 29 85653

Study procedures

After we have informed you in detail about the study and you have given your written consent to participate in the study, we will conduct a clinical examination. In addition to a neurological examination, the examination includes the measurement of gait speed over a 10m distance as well as climbing stairs (if possible). No invasive or painful examinations are performed. The examination takes about 30 minutes of your time and can be carried out as part of your regular outpatient visit. Follow-up examinations are planned at annual intervals. Participation in this study is possible at all TreatHSP outpatient clinics.

Who can participate?

This study is open to all HSP patients over 10 years who have been clinically diagnosed with HSP. A genetic diagnosis is not a prerequisite for participation in the study.

Brief description

In order to conduct clinical trials, it is crucial to be able to reliably measure the progression of the disease and a possible response to therapy. We have developed the 'Spastic Paraplegia Rating Scale' (SPRS) as a clinical instrument for measuring disease severity in HSP. Annual follow-up studies using the SPRS allow us to describe the progression of HSP specifically for each genotype (e.g. SPG4, SPG11) and to plan the design and necessary number of study participants for clinical trials. Thus, the natural history study of HSP is an important prerequisite for conducting clinical trials in the future.

Neuropsychological abnormalities in HSP (SPG4/11)

  • Tübingen
  • genetically confirmed SPG4/11
  • healthy family members of patients with SPG4/11
  • ≥ 18 years
  • one-time examination

Who can participate?

This study is open to all HSP patients with a genetically confirmed SPG4 or SPG11 who are over 18 years of age. In addition, neurologically healthy controls over the age of 18 may participate.

Study procedures

After we have informed you in detail about the study and you have given your written consent to participate in the study, we will briefly examine you physically (Spastic Paraplegia Rating Scale). A neuropsychological examination will then be carried out, including paper-based tests of memory and thinking, as well as questionnaires in which you yourself assess your personality, mood and quality of life. The examination takes about 2.5 hours.


This study is only conducted at the University of Tübingen

 

Contact

Make an appointment

This study will only be conducted at the University of Tübingen. To ask for more information or make an appointment please contact the Tübingen study site: 

 

Centre for Neurology - Dept. of Neurodegenerative Diseases 
HSP Outpatient Clinic
attn. Katrin Dillmann
Hoppe-Seyler-Str. 3
72076 Tübingen
Germany

Email: katrin.dillmann@med.uni-tuebingen.de
Phone: +49 7071 29 85653

Brief description

So far, little is known about the nature and extent of non-motor symptoms of HSP. We know that at least some forms of HSP can lead to fatigue, pain, impaired thinking and memory, changes in mood or social behaviour. These non-motor symptoms have a major impact on the quality of life of patients and their families and will therefore be investigated in more detail starting with two common subtypes of HSP (SPG4, SPG11).

Magnetic resonance imaging of peripheral nerves in HSP (SPG4/7)

  • Heidelberg
  • genetically confirmed SPG4/7
  • magnetic resonance imaging (MRI)
  • ≥ 18 years
  • one-time examination

Contact

This study will only be conducted at the University of Heidelberg. For further information please refer to: 

 

Neurologische Universitätsklinik Heidelberg 
Dr. med. Heike Jacobi
Im Neuenheimer Feld 400
69120 Heidelberg

Email: Heike.jacobi@med.uni-heidelberg.de
Tel.: +49 6221-56-36328

Study procedures

After we have informed you in detail about the study and you have given your written consent to participate in the study, we will perform a short physical examination (Spastic Paraplegia Rating Scale). Subsequently, an electrophysiological examination of the nerves will be carried out as well as a magnetic resonance tomography of the nerves. An optional blood sample will be taken. 

The time required on site is approximately 4 hours. We can pay a lump sum of 60 € to reimburse you for your time and expenses. Alternatively, travel expenses can be reimbursed after consultation. 

This study is only conducted at the University of Heidelberg

Who can participate?

This study is open to all HSP patients with a genetically confirmed SPG4 or SPG7 who are over 18 years of age. 

As part of the study, a magnetic resonance imaging (MRI) examination will be performed. Therefore, you can only participate if you 

  • do not suffer from claustrophobia and can lie flat on your back in the MRI scanner for the duration of the examination
  • You do not have any implanted metal parts in your body that are not approved for magnetic resonance imaging (e.g. pacemakers, some joint prostheses, intrauterine devices, fixed dentures, tattoos or permanent make-up, implanted acupuncture needles). The study doctor will discuss these possible risks with you in detail and on a case-by-case basis. 
  • You are not pregnant. 

Brief description

HSP mainly affects the spinal cord motor neurons. However, the peripheral nerves, i.e. the pathways leading from the spinal cord to the individual muscles of the arms or legs, can also be affected by the disease. Magnetic resonance imaging (MRI) of the peripheral nervous system is a modern method of detecting damage to the peripheral nerves that can usefully supplement physical examination and electrophysiological procedures. In recent years it has been shown that MRI of peripheral nerves can provide valuable additional information for diagnostic purposes. Thus, abnormalities of damaged nerves can be detected at a very early stage. 

In this context, it is our interest to investigate patients with HSP to understand to what extent and at what time changes of the lower limb peripheral nerves occur. This could be important for the understanding of the development of the disease and  might serve as a potential biomarker of the disease. 

GaitLab gait analysis in HSP

  • Erlangen
  • Essen
  • Tübingen
  • HSP patients
  • all HSP subtypes
  • ≥ 18 years

Brief description

The HSP leads to disturbances of gait and movement. The aim of this study is to detect these impairments in a technically supported and automated way. For this we use a mobile sensor attached to a shoe (GaitLab). So we can record numerous gait parameters at the same time. 

The following questions will be answered in the GaitLab study: 

  1. What are the special features of the gait pattern in HSP? How can these be recorded with the GaitLab system?
  2. How does the gait pattern in HSP change over time? Can the GaitLab system be used to measure the progression of the disease?
  3. Can the GaitLab system measure response to therapy? The gait before and after a therapeutic intervention (gait training on a special treadmill) will be examined. 
  4. Can the mobile system be used to continuously record gait characteristics in the home environment?

Who can participate?

This study is open to all HSP patients with clinical or genetically diagnosed HSP over the age of 18. Family members or controls who are healthy may also participate in the study. 

As this study examines the gait, you can only participate if you can walk for at least 10 meters at a time. 

Study procedures

After we have informed you in detail about the study and you have given your written consent to participate in the study, we will physically examine you (Spastic Paraplegia Rating Scale) and ask you about your medical history. We will then ask you to wear special shoes with mobile sensors. We will subsequently perform a gait test. This includes among other things: Walking a 10 meter walking distance, turning on the spot, walking after changing position (getting up from the chair) . With your consent, we will also record your gait pattern in a video. 

The time required on site is approx. 1-2 hours, whereby the gait analysis itself only takes approx. 10-30 minutes. 

This study is conducted in the TreatHSP outpatient clinics of the universities of Erlangen, Essen and Tübingen

Contact

This study will be conducted by the TreatHSP outpatient clinics at the Universities of Erlangen, Essen and Tübingen. For further information please refer to the team at the respective study site: 

Contact HSP outpatient clinic in Erlangen, Germany

Contact HSP outpatient clinic in Essen, Germany

Contact HSP outpatient clinic in Tübingen, Germany