Mild HemophiliaechoSAHMNCT07719647
Ultrasound Assessment of Joint Health in Patients With Mild Hemophilia (Factor Levels 5-40%)
A study testing Joint Ultrasound (HEAD-US) and Blood Sample for Coagulation Factor Measurement in people with Mild Hemophilia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Currently, few recommendations exist for patients with mild hemophilia, who represent approximately 60% of the hemophilia population. This study aims to provide objective data on joint health in these patients, which are currently limited compared to those with moderate or severe hemophilia. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Mild Hemophilia
- What is being tested?
- Joint Ultrasound (HEAD-US) and Blood Sample for Coagulation Factor Measurement
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 1 siteFrance
- Study dates
- Feb 2027to Feb 2028
- Phase
- Interventional
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Adult (≥18 years old) with congenital mild hemophilia, defined as historical coagulation factor level >5% and <40% (FVIII or FIX).
- Affiliated with a social security system.
- Provided written informed consent to participate in the study.
Who cannot join
- Patient on prophylactic treatment, defined as at least one of the following:
- ≥5 factor concentrate injections per month for a period of more than 6 months o. Treatment with emicizumab o. Last factor concentrate injection within the past 28 days
- Patient with acquired hemophilia.
- Patient with uncontrolled chronic rheumatologic disease, such as rheumatoid arthritis, inflammatory spondyloarthropathies, or microcrystalline arthritis.
- Known pregnancy or breastfeeding.
- Patient deprived of liberty or under legal guardianship or conservatorship.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Hôpital Necker Enfants malades
Paris, Île-de-France Region, 75015
Laurent FRENZEL, MD PhD, 01 44 49 52 92 ext. +33, laurent.frenzel@aphp.fr
Sarah BOUCHARD, Project Manager, 01 42 19 28 79 ext. +33, sarah.bouchard@aphp.fr
About this study
Currently, few recommendations exist for patients with mild hemophilia, who represent approximately 60% of the hemophilia population. This study aims to provide objective data on joint health in these patients, which are currently limited compared to those with moderate or severe hemophilia.
The use of joint ultrasound in mild hemophilia could allow early, asymptomatic detection of joint damage, support tailored management including patient education, and ultimately improve quality of life.
The study will also explore the correlation between coagulation factor levels (FVIII or FIX) and other indicators of joint health in France.
Read the detailed description
Hemophilia is an inherited bleeding disorder caused by a deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B), predominantly affecting males, although female carriers can also be symptomatic, often in a milder form. The incidence of hemophilia is similar worldwide, with hemophilia A occurring in approximately 1 in 5,000 births and hemophilia B in 1 in 25,000 births. In France, over 8,000 patients with hemophilia A and 2,000 patients with hemophilia B have been reported, with approximately one-third presenting with severe disease, over 10% with moderate disease, and 60% with mild disease.
Severe hemophilia is associated with frequent and potentially serious bleeding, including joint bleeding, which can lead to progressive and irreversible hemophilic arthropathy. Optimized hemostatic treatments and early detection strategies, such as joint ultrasound, have markedly improved outcomes in severe cases. However, little is known about joint health in patients with mild hemophilia. Although bleeds are less frequent and rarely spontaneous in these patients, they remain at risk of developing arthropathy, including from asymptomatic micro-bleeds.
This study aims to provide objective data on joint health in mild hemophilia patients in France and to explore potential correlations between coagulation factor levels (FVIII or FIX) and other indicators of joint involvement. The results are expected to improve understanding of joint disease in this population and may help guide future preventive and therapeutic strategies.
- Conditions
- Mild Hemophilia
- Being tested
- Joint Ultrasound (HEAD-US), Blood Sample for Coagulation Factor Measurement
- Keywords
- Mild Hemophilia, Hemophilia A, Hemophilia B, Joint Health, Arthropathy, Ultrasound, HEAD-US, Coagulation Factor, Quality of life
- Medical subject headings
- Hemophilia A, Hemophilia B, Joint Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Joint Ultrasound (HEAD-US)Other
Ultrasound evaluation of six joints (both ankles, knees, and elbows) by a designated expert using the HEAD-US scoring system to assess joint health and detect early arthropathy.
Blood Sample for Coagulation Factor MeasurementOther
Blood sample collected according to local laboratory procedures to measure coagulation factor activity (FVIII for hemophilia A, FIX for hemophilia B).
| Study group | Role | What they receive |
|---|---|---|
| Mild Hemophilia Assessment | Other | Patients with mild hemophilia will undergo an evaluation of joint health and functional status. Assessments will include joint ultrasound (HEAD-US) of six joints (ankles, knees, and elbows), blood sampling to determine FVIII or FIX activity, completion of functional, quality-of-life, and physical activity questionnaires, and clinical evaluation using the HemoFAST score. No therapeutic intervention or follow-up is planned as part of the study. Receives: Other: Joint Ultrasound (HEAD-US); Other: Blood Sample for Coagulation Factor Measurement |
What is being measured
The primary outcome is the main question the study is designed to answer.
Haemophilia Early Arthropathy Detection with UltraSound (HEAD-US) score
Ultrasound evaluation of six joints (elbows, knees, and ankles) using the HEAD-US scoring system (score range 0-48, where lower scores indicate better joint status) to assess joint health and detect early arthropathy.
Measured: At inclusion visit
FVIII or FIX Activity
Blood sample measurement of FVIII or FIX activity according to local laboratory procedures (score range 5-40).
Measured: At inclusion visit
Secondary outcomes (5)
Haemophilia Functional Ability Scoring Tool (Hemo-FAST)
Clinical assessment of joint function using the HemoFAST score performed by the physician or designated representative (score range 0-100, where 0 indicates best joint function and higher scores indicate worse joint function).
Measured: At inclusion visit
Haemophilia Activities List (HAL)
Patient-reported questionnaire evaluating functional ability using the validated French translation (score range 0-100, with higher scores indicating better function).
Measured: At inclusion visit
Haemophilia-Associated Quality of Life Questionnaire for Adults (Haem-A-QoL).
Patient-reported questionnaire evaluating quality of life using the validated French translation (score range 0-100, with higher scores indicating poorer quality of life).
Measured: At inclusion visit
EuroQol 5-Dimension 3-Level Questionnaire (EQ-5D-3L)
Patient-reported questionnaire evaluating health status using the validated French version of the EQ-5D-3L (descriptive system).
Measured: At inclusion visit
International Physical Activity Questionnaire (IPAQ)
Patient-reported questionnaire assessing physical activity levels using the IPAQ. Scores are derived according to standard IPAQ scoring procedures.
Measured: At inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2026
- Study startFeb 2027 (estimated)
- Primary completionFeb 2028 (estimated)
- Study completionFeb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mild HemophiliaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin, Swedish Orphan Biovitrum
- Responsible party
- Sponsor
- Investigators
- Laurent FRENZEL, Principal investigator, Hôpital Necker Enfants Malades AP-HP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07719647
- Sponsor's protocol ID
- APHP250564
- Other IDs
- ID-RCB Number
- Acronym
- echoSAHM
- Status last verified
- Aug 2026
- First submitted
- 17 Jul 2026
- Last updated
- 17 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No