healthy volunteers Q79.6
Conditions
Interventions
Group 1: Patients with classic EDS and classic-like EDS in whom the genetic defect has been clarified.
(gHM and orthopedic complaints)
Group 2: Patients with generalized hypermobility and orthopedic
Sponsors
DLR - Institut für Luft- Und RaumfahrtAbteilung für für Muskel- und Knochenstoffwechsel
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: All groups: - Ability to consent - Consent and signed informed consent prior to study. - Group 1 (Monogenic EDS): Diagnosed with classic or classic-like EDS. According to the EDS diagnostic criteria 2017 - Group 2 (HSD/ hEDS group): Diagnosed with hypermobile EDS or HSD according to the 2017 EDS diagnostic criteria 2017 - Group 3 (dancers): active dancers who are gender, age, and height-matched with the participants of group 1 - Group 4 (control subjects): healthy, non-hypermobile non-dancers who match the participants of group 1 in terms of their Gender, age, and height matched to participants in group 1.
Exclusion criteria
Exclusion criteria: - Contraindications to magnetic resonance imaging (claustrophobia, implants). - Injury or illness in the past six weeks that interferes with calf muscle contractions or jump and hop testing
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| -Ultrasound shear wave velocity in the medial gastrocnemius muscle at rest and during graded contraction up to maximum -Achilles tendon stiffness during graded contraction up to maximum, as-sessed by B-mode ultrasound -Combined musculotendinous stiffness of the plantar-flexor muscles and Achilles tendon, assessed by quick-release test -Axial stress in the physiological cross-section of the calf musculature dur-ing maximum contraction | — |
Secondary
| Measure | Time frame |
|---|---|
| - Physical activity (by questionnaire) - Clinical Evaluation including hEDS Diagnostic Criteria 2017, Hypermobility Assessment (Beighton Score, Lower Limb Assessment Score), Foot Pos-ture Measurements (dynamic measurements, footprint, and if available X-ray radiological indices), Spine Mobility Test (Ott/ Schober) - Plantar flexor muscle strength and power - Fascia thickness / strain index - Muscle fascicle dynamics, defined as change in pennation angle between 10% and 90% of maximum voluntary contraction (B-mode ultrasound & dynamometry) - Ankle joint angle change during plantar flexor contractions (electrogoniom-eter) - Electromyographic activity during contractions - Achilles tendon lever arm (manually) - Leg muscle volume (MRI) - Vertical jump power (jump test on force platform) - Peak ground reaction force during repetitive hopping - Body height, weight and composition (bio-impedance, bod-pod) - Clinical gait analysis - Serum, plasma, and saliva levels of hormones derived from musculoskele-tal tissues: asprosin (cleavage product of fibrillin-1), placensin (cleavage product of fibrillin-2), and endotrophin (cleavage product of collagen VI). - Serum biomarker levels of cartilage metabolism: (cartilage oligomeric ma-trix protein (COMP), matrix metalloproteinase- (MMP)-3, MMP-9, TIMP Metallopeptidase Inhibitor (TIMP)-1, TIMP-9, a disintegrin and metallopro-teinase with thrombospondin motifs (ADAMTS)-5, C2C (collagen II degra-dation), C1,2C (collagen I and II degradation), CP II (collagen II synthesis), CS846 (aggrecan turnover), chitinase-3-like protein 1 (Chi3-l1) (YKL-40). | — |
Countries
Germany
Contacts
Public ContactJörn Rittweger
DLR - Institut für Luft- Und RaumfahrtAbteilung für für Muskel- und Knochenstoffwechsel
Outcome results
None listed