FSHD - Facioscapulohumeral Muscular DystrophyFSHD-FOCUS 3NCT06911190
Ten Year Follow-up in FSHD: the FOCUS 3 Study
An observational study of FSHD - Facioscapulohumeral Muscular Dystrophy, run by Radboud University Medical Center at 1 site in Netherlands.
Trial summary
This study aims to assess longitudinal data in 170 adult and 30 pediatric genetically and clinically well-defined facioscapulohumeral dystrophy (FSHD) patients. FSHD is a chronic progressive disorder associated with major disability due to loss of function and independence. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- FSHD - Facioscapulohumeral Muscular Dystrophy
- How many people
- 200 participants
- Where
- 1 siteNetherlands
- Study dates
- 1 Sep 2024to 30 Dec 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: FSHD patients
Who may be able to join
- All 162 genetically confirmed FSHD patients that participated in the FSHD-FOCUS 2 and 18 genetically conformed pediatric FSHD patient that participated in the FSHD-iFocus study and are informed about the genetic confirmation of FSHD. The 65 newly included patients need to provide genetical confirmation of the disease.
Who cannot join
- No incapacitated persons will be included in this study. Persons with contra-indications for MRI-scan are excluded for that one procedure, but can be included in the study. Contraindications for MRI-scan include metallic implants (vascular clips, foreign bodies like metallic splinters in the eye, coronary and peripheral artery stents, prosthetic heart valves, pacemakers and ICD's, cochlear implants, breast tissue expanders and some other electronic implants or devices), renal insufficiency, previous allergic reaction to contrast fluids and known claustrophobia.
- Participant in medication trial
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Ten Year Follow-up in FSHD; the FOCUS-3 Study
This study aims to assess longitudinal data in 170 adult and 30 pediatric genetically and clinically well-defined facioscapulohumeral dystrophy (FSHD) patients. FSHD is a chronic progressive disorder associated with major disability due to loss of function and independence. The clinical variability of FSHD is partially explained by currently known (epi)genetic factors. Identifying the variables that influence the clinical variability is essential for developing targeted therapies. Furthermore, it is crucial to assess the natural course, determine sensitive outcome measures and biomarkers to prepare for future trials. Objective This is a longitudinal study on 200 Dutch FSHD patients with a follow-up of ten years. We will hereby assess the natural disease course; determine the sensitivity to change of clinical outcome measures and muscle imaging; validate newly developed outcome measures; and help identify biomarkers and modulators of disease severity.
Study population: Genetically proven FSHD patients: All 162 patients that participated in the FSHD-FOCUS study, together with all 18 pediatric patients that participated in the iFocus study , and additional 65 newly included patients. Main study parameters/endpoints: Natural history will be assessed by 'traditional' clinical outcome measures: Motor Function Measure D1, Ricci-score, MRC scores and FSHD clinical score for adults. Additionally in children shoulder dysfunction performance of upper limb and Facial weakness score will be assessed. Natural history will also be quantified using newer clinical outcome measures and patient-reported measures: Reachable workspace, FSHD-RODS and FSHD Facial Function scale in adults. In children, Reachable workspace and FSHD-COM Peds will be assessed. Muscle MRI and ultrasound will be performed to determine progression of fat replacement, fibrosis, and muscle inflammation.
Furthermore, blood samples will be taken in adult participants for (epi)genetic analysis on disease modifying factors, and for storage in the Radboudumc biobank for future research (e.g. on biomarkers). Nature and extent of the burden and risks associated with participation, benefit and group relatedness: Participants will be asked for a visit to the outpatient clinic at the department of neurology. Their medical history will be taken and they will undergo a clinical examination. Several questionnaires can be completed at home through on online system (Castor). Blood samples will be collected in adult patients, a magnetic resonance imaging (MRI) of muscles of both legs (in adults and adolescents) and muscle ultrasound of multiple skeletal muscles will be performed. Spirometry will be performed in a small subset of adult participants. We classify the risk of this study as negligible.
- Keywords
- FSHD, facioscapulohumeral muscular dystrophy, FSHD1, FSHD2
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| FOCUS 3 cohort | Genetically proven FSHD patients |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity to change
- determine the sensitivity to change of multiple traditional and new clinical outcome measures, patient reported outcome measures and muscle imaging techniques on FSHD
Measured: 10 years after baseline
Imaging
-provide detailed clinical and muscle imaging data on FSHD with a longitudinal follow-up of ten years (T0: baseline FSHD-study T1: five year follow-up or FOCUS-2 study; T2: FOCUS-3 study) to anticipate change in muscle imaging data
Measured: 10 years after baseline
Predict disease progression
- Identification of patterns in disease progression to predict personalized disease trajectories and identify disease modifiers
Measured: 10 years after baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Apr 2025
- Study start1 Sep 2024
- Primary completion30 Dec 2025 (estimated)
- Study completion30 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FSHD - Facioscapulohumeral Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Radboud University Medical CenterThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Radboud University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06911190
- Sponsor's protocol ID
- FSHD-FOCUS 3
- Acronym
- FSHD-FOCUS 3
- Status last verified
- Mar 2025
- First submitted
- 21 Mar 2025
- Last updated
- 4 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 4 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Ten Year Follow-up in FSHD; the FOCUS-3 Study
- ClinicalTrials.gov ID
- NCT06911190
- Acronym / sponsor ID
- FSHD-FOCUS 3 / FSHD-FOCUS 3
- Keywords
- FSHD, facioscapulohumeral muscular dystrophy, FSHD1, FSHD2
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Radboud University Medical CenterUniversity, hospital or other
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- 30 Dec 2025 (estimated)
- Study completion
- 30 Dec 2025 (estimated)
- First posted
- 4 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study aims to assess longitudinal data in 170 adult and 30 pediatric genetically and clinically well-defined facioscapulohumeral dystrophy (FSHD) patients. FSHD is a chronic progressive disorder associated with major disability due to loss of function and independence. The clinical variability of FSHD is partially explained by currently known (epi)genetic factors. Identifying the variables that influence the clinical variability is essential for developing targeted therapies. Furthermore, it is crucial to assess the natural course, determine sensitive outcome measures and biomarkers to prepare for future trials. Objective This is a longitudinal study on 200 Dutch FSHD patients with a follow-up of ten years. We will hereby assess the natural disease course; determine the sensitivity to change of clinical outcome measures and muscle imaging; validate newly developed outcome measures; and help identify biomarkers and modulators of disease severity.
Study population: Genetically proven FSHD patients: All 162 patients that participated in the FSHD-FOCUS study, together with all 18 pediatric patients that participated in the iFocus study , and additional 65 newly included patients. Main study parameters/endpoints: Natural history will be assessed by 'traditional' clinical outcome measures: Motor Function Measure D1, Ricci-score, MRC scores and FSHD clinical score for adults. Additionally in children shoulder dysfunction performance of upper limb and Facial weakness score will be assessed. Natural history will also be quantified using newer clinical outcome measures and patient-reported measures: Reachable workspace, FSHD-RODS and FSHD Facial Function scale in adults. In children, Reachable workspace and FSHD-COM Peds will be assessed. Muscle MRI and ultrasound will be performed to determine progression of fat replacement, fibrosis, and muscle inflammation.
Furthermore, blood samples will be taken in adult participants for (epi)genetic analysis on disease modifying factors, and for storage in the Radboudumc biobank for future research (e.g. on biomarkers). Nature and extent of the burden and risks associated with participation, benefit and group relatedness: Participants will be asked for a visit to the outpatient clinic at the department of neurology. Their medical history will be taken and they will undergo a clinical examination. Several questionnaires can be completed at home through on online system (Castor). Blood samples will be collected in adult patients, a magnetic resonance imaging (MRI) of muscles of both legs (in adults and adolescents) and muscle ultrasound of multiple skeletal muscles will be performed. Spirometry will be performed in a small subset of adult participants. We classify the risk of this study as negligible.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| FOCUS 3 cohort | – | –Genetically proven FSHD patients |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- FSHD patients
Key inclusion criteria (1 listed)
- All 162 genetically confirmed FSHD patients that participated in the FSHD-FOCUS 2 and 18 genetically conformed pediatric FSHD patient that participated in the FSHD-iFocus study and are informed about the genetic confirmation of FSHD. The 65 newly included patients need to provide genetical confirmation of the disease.
Key exclusion criteria (2 listed)
- No incapacitated persons will be included in this study. Persons with contra-indications for MRI-scan are excluded for that one procedure, but can be included in the study. Contraindications for MRI-scan include metallic implants (vascular clips, foreign bodies like metallic splinters in the eye, coronary and peripheral artery stents, prosthetic heart valves, pacemakers and ICD's, cochlear implants, breast tissue expanders and some other electronic implants or devices), renal insufficiency, previous allergic reaction to contrast fluids and known claustrophobia.
- Participant in medication trial
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Sensitivity to change
Time frame: 10 years after baseline
- determine the sensitivity to change of multiple traditional and new clinical outcome measures, patient reported outcome measures and muscle imaging techniques on FSHD
Imaging
Time frame: 10 years after baseline
-provide detailed clinical and muscle imaging data on FSHD with a longitudinal follow-up of ten years (T0: baseline FSHD-study T1: five year follow-up or FOCUS-2 study; T2: FOCUS-3 study) to anticipate change in muscle imaging data
Predict disease progression
Time frame: 10 years after baseline
- Identification of patterns in disease progression to predict personalized disease trajectories and identify disease modifiers
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Apr 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of FSHD - Facioscapulohumeral Muscular Dystrophy, run by Radboud University Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Eline Boon, MD (0686550949, eline.tm.boon@radboudumc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sensitivity to change (time frame: 10 years after baseline). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Apr 2025; AzTrials last refreshed its copy on 7 Nov 2026.