Phenotypes, Biomarkers and Pathophysiology in Spastic Ata... | NCT04297891

NCT04297891

ID	Type	Description	Link
441409627	Other Grant/Funding Number	Deutsche Forschungsgemeinschaft (DFG)

Status Module

Name	Class
German Center for Neurodegenerative Diseases (DZNE)	OTHER
German Research Foundation	OTHER

Oversight Module

Description Module

Design Module

Interventional Study Design

Biospecimen

Arms/Interventions Module

Arm Groups

Label	Description	Intervention Names
ARSACS	Participants with genetically confirmed ARSACS (ORPHA:98) will be recruited. Target sample size for the ARSACS cohort is 120.	Other: Clinical rating scale to measure Ataxia disease severity and progression Other: Clinical rating scale to measure spastic paraplegia disease severity and progression Other: Disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Diagnostic Test: Next-Gen Sequencing (NGS)
SPG7	Participants with genetically confirmed SPG7 (ORPHA:99013) will be recruited. Target sample size for the SPG7 cohort is 72.	Other: Clinical rating scale to measure Ataxia disease severity and progression Other: Clinical rating scale to measure spastic paraplegia disease severity and progression Other: Disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Diagnostic Test: Next-Gen Sequencing (NGS)
Unrelated healthy control	Unrelated healthy controls Healthy controls may undergo the same study procedures as the ARSACS and SPG7 cohort. Target sample size for the control cohort is 50.	Other: Clinical rating scale to measure Ataxia disease severity and progression Other: Clinical rating scale to measure spastic paraplegia disease severity and progression Other: Disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Diagnostic Test: Next-Gen Sequencing (NGS)

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Clinical rating scale to measure Ataxia disease severity and progression	Other	SARA is a clinical scale developed by Schmitz-Hübsch et al which assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up	Severity of the ataxia component of the disease will be assessed by application of the Scale for the Assessment and Rating of Ataxia (SARA). The total score is calculated as the sum of al items, yielding a total score between 0 and 38. Hereby, higher SARA scores indicate more severe disease.	24 months
Change of Spastic Paraplegia Rating Scale (SPRS) from baseline to 2-year follow-up	Severity of the spasticity component of the disease will be assessed by application of the Spastic Paraplegia Rating Scale. The total score is calculated as the sum of al items, yielding a total score between 0 and 52. Hereby, higher SPRS scores indicate more severe disease.	24 months

Secondary Outcomes

Measure	Description	Time Frame
Change of Disease severity index - Autosomal recessive spastic ataxia of Charlevoix-Saguenay(DSI-ARSACS) from baseline to 2-year follow-up	The DSI-ARSACS is a clinical rating scale consisting of 8 items reflecting the 3 main components of the disease (pyramidal, cerebellar, and neuropath systems) specifically developed to measure disease progression in ARSACs. The DSI-ARSACS total score can range from 0 to 38. Hereby, higher DSI-ARSACS scores indicate more severe disease.

Other Outcomes

Measure	Description	Time Frame
Change of the Patient-Reported Outcomes Measurement Information System (PROMIS) short form "physical function" 12a from baseline to 2-year follow-up	Self-report questionnaire comprising 12 questions. All PROMIS scores are standardized (item-level calibration) and expressed as T-scores with a population mean of 50 and a Standard Deviation (SD) of 10. Higher T-scores hereby indicate a higher physical function level.

Eligibility Module

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Rebecca Schüle, PD Dr.	Contact	+49 7071 29	85653	rebecca.schuele-freyer@uni-tuebingen.de
Matthis Synofzik, Prof., Dr.	Contact	+49 7071 29	82060	matthis.synofzik@uni-tuebingen.de

Name	Affiliation	Role
Rebecca Schüle, PD Dr.	University Hospital Tübingen	Principal Investigator
Matthis Synofzik, Prof., Dr.	University Hospital Tübingen	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Montreal Neurological Institute of McGill University, Department of Neurology and Neurosurgery and Human Genetics	Recruiting	Montreal	Quebec	H3A 2B4	Canada

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
40685914	Derived	Hamdan A, Traschutz A, Beichert L, Chen X, Gagnon C, van de Warrenburg BP, Santorelli FM, Basak N, Coarelli G, Horvath R, Klebe S; PROSPAX consortium; EVIDENCE-RND consortium; Schule R, Hooker AC, Synofzik M, Karlsson MO. Integrated Modeling of Digital-Motor and Clinician-Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases. CPT Pharmacometrics Syst Pharmacol. 2025 Nov;14(11):1857-1868. doi: 10.1002/psp4.70081. Epub 2025 Jul 21.