Friedreich ataxia (ORPHA:95) G11.1
Conditions
Interventions
Group 1: Observation arm: patients with Friedreich ataxia (annual examinations over 3 years)
Group 2: Observation arm: healthy control subjects including heterozygote mutation carriers of the GAA repe
Sponsors
Uniklinik RWTH Aachen
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Participants with Friedreich ataxia will be recruited to the study if they meet the following inclusion criteria: -genetically confirmed diagnosis of Friedreich ataxia -written informed consent provided For underage patients who are eligible for the study because of an early disease onset, they and the parent/ legal guardian must sign the informed consent form. Persons who are not legally competent require the informed consent of their legal guardian. Healthy controls will be recruited to the study if they meet the following inclusion criteria: -written informed consent provided Controls may be family members or recruited elsewhere, heterozygous GAA expansion carriers are allowed For underage controls who are eligible for the study they and the parent/ legal guardian must sign the informed consent form
Exclusion criteria
Exclusion criteria: Participants with Friedreich ataxia will be excluded from participating in the study if they meet any of the following criteria: -not legally competent and no parent/ guardian to provide written informed consent -no genetically confirmed diagnosis of Friedreich ataxia -acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study Controls will be excluded from participating in the study if they meet any of the following criteria: -unable to provide written informed consent -diagnosed with a relevant ongoing psychiatric or neurological condition -acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study -Pregnancy For participants who will undergo MRI (optional): Any contraindications to MRI such as, but not limited to cardiac pacemaker, implanted cardiac defibrillator, aneurysm clips, carotid artery vascular clamp, neurostimulator, implanted drug infusion devices, metal fragments or foreign objects in the eyes, skin or body, bone growth/fusion stimulator, cochlear, otologic implant, severe claustrophobia or any condition that would counter indicate an MRI scan. For participants undergoing spinal and/or kinematic analysis the following exclusion criteria apply: implanted pacemaker, severe obesity (BMI > 35) or pregnancy For participants undergoing an adipose tissue biopsy the following exclusion criteria apply: pregnancy, use of anticoagulants or antiplatelet therapy (except monotherapy with low-dose Aspirin), hypersensitivity to local anesthesia, or a skin rash of the abdominal region
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Disease progression measured using the Scale for the Assessment and Rating of Ataxia (SARA) | — |
Secondary
| Measure | Time frame |
|---|---|
| Wearable devices (Smartphone app called JTrack): -Walking speed (25 foot walk) -1-minute walk -passive activity monitoring CardioWatch -tracks arrythmias, vital signs, sleep Surface topography (DIERS postura, DIERS formetric): quantification of scoliosis Ultrasound for abdominal and back musculature Digital phenotypisation: -Ineartial measurement units (sensor insoles, stappone) -Video recording of the neurological examination and analysis using computer vision Bioimpedance analysis Patient reported outcomes and cognitive tests: -Activities of daily living -Verbal fluency -Montreal Cognitive Assessment (MoCA) -Neurodevelopmental tests -Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale (CCAS) -Hospital Anxiety and Depression Scale (HADS)/ Revised Children’s Anxiety and Depression Scale (RCADS) -Patient-related outcomes (PROMS) and Quality of life -Prom-Ataxia 10 -EuroQol three dimensions questionnaire (EQ-5D) -Your Health and Well-Being Health Survey (SF-36 for adults, SF-10 for participants below the age of 18 years) -MODDS (movement disorders dysphagia screen) -RS-25 (Resilience) -Pubertal development scale MRI brain and spine measures (diverse) Neurological examination: -Inventory of Non-Ataxia Signs -modified Friedreich Ataxia Rating Scale (mFARS) Biomaterials: -Proteomics -Frataxin -Neurofilament light chain -Cardiac markers: PICP, PIINP, Serum collagen type 1 telopeptide-to-serum matrix metalloproteinase-1 ratio -Metabolic parameters: (glucose, insulin, C-Peptide), cytokines, incretins -Gonadal hormones -Peripheral mononuclear blood cells -Microbiome (stool) -Adipose tissue biopsy | — |
Countries
Germany
Contacts
Public ContactKathrin Reetz
Uniklinik RWTH Aachen
Outcome results
None listed