Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Study goals
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Mutation carrier | Experimental | The participants will be tested genetically if they carry a disease causing mutation or not. Depending on their genetic test result they will at the end of the study divided into two groups. The clinician will be blinded throughout the entire study to the genetic results. |
|
| Non-mutation carrier | Experimental | The participants will be tested genetically if they carry a disease causing mutation or not. Depending on their genetic test result they will at the end of the study divided into two groups. The clinician will be blinded throughout the entire study to the genetic results. |
|
| Known-mutation carriers but presymptomatic | Experimental | In a third arm (open arm) we will also include positive predictive tested participants which know that they are carrying a known mutation but are at inclusion into the study asymptomatic (according to the inclusion / exclusion criteria). |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| SPRS Score and clinical signs | Other | Patients will clinically characterized by using the SPRS Score and the inventory V3 |
|
| Measure | Description | Time Frame |
|---|---|---|
| Identification of a change of recognizable signs or symptoms | Identification of recognizable signs or symptoms and their time course prior to disease-onset defined by the presence of a spastic gait and at least one of three additional features:
| every two years, up to eight years |
| Measure | Description | Time Frame |
|---|---|---|
| Subclinical progression (10m walking time) | To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation. | every two years, up to eight years |
| Subclinical progression (5-stair climbing test time) |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Ludger Schöls, Prof. | Contact | +49 7071 / 29 | 82057 | ludger.schoels@uni-tuebingen.de |
| Name | Affiliation | Role |
|---|---|---|
| Ludger Schöls, Prof. | Head of Department | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Tübingen, Center for Neurology | Recruiting | Tübingen | 72076 | Germany |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 35472722 | Result | Rattay TW, Volker M, Rautenberg M, Kessler C, Wurster I, Winter N, Haack TB, Lindig T, Hengel H, Synofzik M, Schule R, Martus P, Schols L. The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study. Brain. 2023 Mar 1;146(3):1093-1102. doi: 10.1093/brain/awac155. |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Two Arms are blinded (mutation carriers vs. non mutation carriers) the third arm is an open-arm for presymptomatic tested mutation carriers
| Cognition Testing using CANTAB | Behavioral | Patients will be tested using the CANTAB |
|
| Lumbar Puncture and blood draw | Diagnostic Test | Biomaterial will be collected (not obligate) to compare e.g. Nfl levels in serum and CSF |
|
| MRI | Diagnostic Test | MRI will be used to reveal presymptomatic brain morphology changes (not obligate) |
|
| Electrophysiology | Diagnostic Test | Electrophysiological tests will be used to characterize patients better. |
|
| Testing functional performance | Diagnostic Test | By using the 3 minute walk, 5 stair-climb test, and 10m walking test we will try to identify and measure subclinical progression prior to disease onset |
|
| Non motor symptoms | Diagnostic Test | By using a number of different tests we try to identify other non-motor symptoms which might manifest prior to disease onset. |
|
To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation. |
| every two years, up to eight years |
| Subclinical progression (3 minute walking test (3MW)) | To identify measures of subclinical progression of motor symptoms prior to disease onset by comparing functional performance in mutation carriers with that in individuals without mutation. | every two years, up to eight years |
| MRI (not obligate) - DTI | To reveal alterations in brain morphology with magnetic resonance im-aging (MRI) in presymptomatic mutation carriers by measuring diffusion tensor imaging (DTI). | every two years, up to eight years |
| MRI (not obligate) - volumetry | To reveal alterations in brain morphology with magnetic resonance im-aging (MRI) in presymptomatic mutation carriers by measuring brain volumetry. | every two years, up to eight years |
| Nfl | To compare Nfl levels in serum (and cerebrospinal fluid (CSF) - not obligate) in mutation carriers and non-carriers. | every two years, up to eight years |
| Non-motor symptoms (SPRS inventory V3) | To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the SPRS inventory V3. | every two years, up to eight years |
| Non-motor symptoms (quality of life) | To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the EQ-5D. | every two years, up to eight years |
| Non-motor symptoms (fatigue) | To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the MFI. | every two years, up to eight years |
| Non-motor symptoms (pain) | To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the Brief Pain Inventory. | every two years, up to eight years |
| Non-motor symptoms (depression) | To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the Becks Depression Inventory (BDI). | every two years, up to eight years |
| Non-motor symptoms (restless-legs) | To identify clinical signs (other than spasticity) that are more frequent in mutation carriers than in non-carriers as recorded by the restless-legs diagnostic criteria questions. | every two years, up to eight years |
| SPRS | To determine the sensitivity of the Spastic Paraplegia Rating Scale (SPRS) to detect the manifestation of disease onset as defined above. | every two years, up to eight years |
| Cognition (CANTAB) | To compare cognitive performance by using the CANTAB battery in mutation and non-mutation carriers | every two years, up to eight years |
| Cognition (MoCA) | To compare cognitive performance by using the Montreal Cognitive Assessment (MoCA) in mutation and non-mutation carriers | every two years, up to eight years |
| ID | Term |
|---|---|
| D015419 | Spastic Paraplegia, Hereditary |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
Not provided
Not provided
| ID | Term |
|---|---|
| D013129 | Spinal Puncture |
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D001706 | Biopsy |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D003943 | Diagnostic Techniques, Neurological |
| D011677 | Punctures |
| D013812 | Therapeutics |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
Not provided
Not provided