Clinical trial NCT03541811: Gait Examination in Patients With Hemophilia in Austria
Official title: Joint-health Outcome Scoring: Exploration in Patients With Hemophilia in Austria (JOSEPHA Phase 1)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hemophilia
Keywords: gait
motion capture
hemophilia joint health score
physical activity
body composition
gait deviation index
hemophilia
Lead sponsor: FH Campus Wien, University of Applied Sciences
Sponsor class: OTHER
Collaborators: name: Medical University of Vienna
name: Shire
First posted: 2018-05-31
Enrollment: 42
Sex: MALE
Minimum age (years): 16
Maximum age (years): 49
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Test group population will be recruited at the clinical hemophilia center and pediatric unit of the Medical University of Vienna (patients with hemophila have biannual appointments)

Test group participants are asked to invite a friend at the same age (+/- 3 years; between 16 and 45y) to participate in the sense of a peer-matched control

Brief summary: Hemophilia is an inherited disease caused by deficiency in varying degrees of clotting factors VIII and IX. Depending on the percentage of clotting factor in the blood the disease is categorized as "severe" (\<1%, characterized by spontaneous bleedings), "moderate" (1-5%) and "mild" (\>5%). If untreated, recurrent bleeding into the synovial joints often results in irreversible damage due to destruction of the cartilages and progressive joint impairment.

3d-gait analysis has been demonstrated as valid method to assess abnormal gait patterns and to monitor disease progression in patients with hemophilia (PWH). Furthermore, its outcomes facilitate the design of individually tailored therapeutic programs. In contrast to radiological examinations, 3d-gait analyses take place under weight-bearing conditions, which is a relevant issue in terms of weight-induced pain.

This study aims to explore the applicability of 3-d gait analysis as biomarker (gait deviation index) for functional impairments in PWH. Besides 3-d gait scores, secondary endpoints such as biomarkers reflecting cartilage damage and a laterality-ratio of leg muscle mass (in the case of one-sided target joints) will be tested for their ability to detect functional impairments in young adults with hemophilia.

Based on sample size calculation, 24 subjects aged 16-49 years, able to walk without aids or assistance will be included in each of the two groups: control (healthy, male), PWH (severe or moderate, treated prophylactically). Subjects suffering from functional impairments caused by other conditions than hemophilia, patients with bleedings within 30 days prior to the examination, PWH treated with immune-tolerance therapy and/or not successfully treated present or past high-titer factor VIII or FIX inhibitor will be excluded.

Subjects will pass through a set of examinations (medical history, clinical examination, 3d-gait analysis, anthropometrics, body composition analysis, venipuncture, and urine sampling) and carry an accelerometer device for seven consecutive days.

Confounder adjusted group differences will be assessed by ANCOVA with contrasts and Bonferroni correction. Correlations between the applied examination approaches will be assessed.

An evidence based health promotion program including follow-up examinations, physical activity promotion, and tailored physiotherapy are being envisaged as a follow-up project (JOSEPHA phase 2).


Eligibility criteria: Inclusion Criteria (test group):

* Provide signed and dated informed consent form (additionally from guardian for participants aged under 18 years)
* Willing to comply with all study procedures and be available for the duration of the study
* Diagnosed severe or moderate hemophilia A or B
* Age between 16 and 49 years
* Able to walk without aids or assistance
* Treated with prophylactic substitution, initiated until the age of 18 years

Inclusion Criteria (control group):

* Provide signed and dated informed consent form (additionally from guardian for participants aged under 18 years)
* Willing to comply with all study procedures and be available for the duration of the study
* Male
* Age between 16 and 49 years (no blood samples for participants aged under 18 years)
* Physiological and symmetric gait pattern without using aids or assistance

Exclusion Criteria:

* Subjects suffering from functional impairments caused by other conditions than hemophilia
* PWH with joint bleedings within 30 days prior to the examination (applies for test group only)
* PWH treated with immune-tolerance therapy and/or not successfully treated present or past high-titer factor VIII or FIX inhibitor (applies for test group only)

Primary outcomes:
measure: Gait Deviation Index (GDI)
timeFrame: May 2018 - Oct 2018 (anticipated)
Secondary outcomes:
measure: Kinematic gait parameters
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Walking velocity
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Walking cadence
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Step length
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Stance phase duration
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Swing phase duration
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Body composition analysis
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Biomarkers measured from serum and urine
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Background factors (age)
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Background factors (level of education)
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Background factors (type and severity of hemophilia)
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Background factors (type and history of substitutional therapy )
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Background factors (history of joint bleedings)
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Background factors (inhibitors & immune-tolerance therapy)
timeFrame: May 2018 - Oct 2018 (anticipated)
measure: Hemophilia joint health score (HJHS)
timeFrame: May 2018 - Oct 2018 (anticipated)
Other outcomes:
Locations:
city: Vienna
country: Austria
facility: FH Campus Wien - University of Applied Sciences
Study officials:
affiliation: FH Campus Wien, Department Health Sciences
name: Peter Putz, Dr
role: PRINCIPAL_INVESTIGATOR
References: