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Muscular Dystrophy, FacioscapulohumeralNCT04999735

Digital Biotyping of FSHD Patients and Controls

An observational study of Muscular Dystrophy, Facioscapulohumeral, run by Centre for Human Drug Research, Netherlands at 1 site in Netherlands.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

Facioscapulohumeral muscular dystrophy (FSHD) is a devastating progressive muscle dystrophy. There is no treatment. FSHD is generally characterized by asymmetrical weakness and wasting of facial, shoulder girdle and upper arm muscles followed by weakness of muscles of the trunk and lower extremities, but disease… Read more about this study

Who is it for?
Ages 16 years and olderHealthy volunteers can take part
Conditions the study is for
Muscular Dystrophy, Facioscapulohumeral
What is being tested?
CHDR Monitoring Remotely (MORE), Withings Steel HR and Withings Body+ scale
How many people
58 participants
Where
1 siteNetherlands
Study dates
14 Apr 2019to 4 Oct 2019
How long will I take part?
1 Day
Phase
Observational
Are there results?
None posted in the registry

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 16 years and older
  • All sexes
  • Healthy volunteers accepted
  • Child, Adult, Older adult

Study population: Up to 40 (but at least 20) patients with genetically confirmed FSHD and 20 controls who own and use an Android based smartphone on a daily basis will be included in this study.

Who may be able to join

  • Patients eligible for inclusion in this study have to fulfill all of the following criteria:
  • Written informed consent is obtained before any assessment is performed.
  • Males and females age 16+ years.
  • Genetically confirmed FSHD.
  • Symptomatic as demonstrated by Lamperti score >0.
  • Fully functioning Android-based smartphone with Android version 5.0 or higher.
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  • Able to comply with the study procedures, prohibitions and restrictions (drug use) as specified in the protocol.
  • Controls inclusion criteria
  • Controls eligible for inclusion in this study have to fulfill all of the following criteria:
  • Written informed consent is obtained before any assessment is performed.
  • Males and females age 16+ years.
  • Unrelated subjects without FSHD.
  • Fully functioning Android-based smartphone with Android version 5.0 or higher.
  • Able to comply with the study procedures, prohibitions and restrictions (drug use) as specified in the protocol.

Who cannot join

  • Patients fulfilling any of the following criteria are not eligible for inclusion in this study:
  • Current or previously diagnosed illness or any clinical condition that, in the opinion of the investigator, might confound the results of the study.
  • Positive urine β-human chorionic gonadotropin (β-hCG) pregnancy test at Screening in women of childbearing potential.
  • Wearing a pacemaker or other internal medical device (e.g. Vagus nerve stimulation (VNS), Deep Brain Stimulation (DBS)).
  • Current enrollment in an interventional study.
  • Controls fulfilling any of the following criteria are not eligible for inclusion in this study:
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  • Current or previously diagnosed illness or any clinical condition that, in the opinion of the investigator, might confound the results of the study.
  • Positive urine β-human chorionic gonadotropin (β-hCG) pregnancy test at Screening in women of childbearing potential.
  • Wearing a pacemaker or other internal medical device (e.g. Vagus nerve stimulation (VNS), Deep Brain Stimulation (DBS)).
  • Current enrollment in an interventional study.

Trial locations and contacts

1 site in 1 country.

Netherlands1 site
  • Centre for Human Drug Research

    Leiden, South Holland, 2333 CL

Other trials in Netherlands

About this study

Official title: An Exploratory, Non-interventional Study to Biotype Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Controls Using Digital Technologies

Facioscapulohumeral muscular dystrophy (FSHD) is a devastating progressive muscle dystrophy. There is no treatment. FSHD is generally characterized by asymmetrical weakness and wasting of facial, shoulder girdle and upper arm muscles followed by weakness of muscles of the trunk and lower extremities, but disease severity varies widely between patients. Relatively long periods of stability are interspersed with short periods of potentially steep decline, leading overall to a slow but unpredictable rate of progression. Different genotypes underlying FSHD have been identified, but they result in highly similar phenotypes and at the molecular level converge on undue expression of the transcription factor, DUX4, in skeletal muscle, which is thought to (ultimately) lead to muscle wasting due to inflammation, apoptosis, and oxidative stress. There is no approved treatment, although various companies are engaged in FSHD drug discovery and development aimed in particular at reducing DUX4 expression. Multiple treatment options are currently under development in both preclinical and early clinical stages. However, these efforts face significant challenges in the path to regulatory approval. Because of the slow and variable rate of progression of FSHD, evidencing a significant treatment response will be cumbersome using only the existing measurements of muscle function. The successful development of these investigative treatments for FSHD is therefore highly dependent on the availability of validated disease and treatment biomarkers to monitor disease progression and response to treatment, respectively. To date, no such validated biomarkers exist. This study is important for four reasons: 1. Clinical testing of FSHD drug candidates requires the availability of clinical biomarkers that (a) change relatively rapidly over time; (b) allow for identification of fast progressors; and (c) correlate with "gold standard", but slowly changing, clinical severity and/or functional scores. This study is a first step in that direction as it seeks to explore if the investigational digital technologies described below are able to generate single or composite variables that (cross-sectionally) distinguish FSHD patients from controls. If identified, such variables will be tested as putative clinical FSHD biomarkers in a follow-up longitudinal study with FSHD patients. 2. Patient testimonies indicate that living with FSHD means living with pain, fatigue, social isolation, and anxiety about the future. This study provides the first-ever opportunity to gather objective, real-world data about the impact of FSHD on daily life. 3. Regulators have already indicated that Real-World Data (RWD) is a top strategic priority for their drug reviews. This study aims to fill this gap by gathering RWD about the physical and social activities of FSHD patients in comparison with controls. This way we aim to find (composite) scores that correlate with selected severity and functional scores and additionally distinguish FSHD patients from controls. 4. This study offers an opportunity to expand the spectrum of diseases in which RWD may be used as (a basis for) clinical outcome measures. A successful outcome of this study may support testing the MORE platform in other muscular dystrophies as well.

Being tested
CHDR Monitoring Remotely (MORE), Withings Steel HR, Withings Body+ scale, Withings Blood Pressure Monitor
Keywords
Facioscapulohumeral muscular dystrophy, Biotyping
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.

  • CHDR Monitoring Remotely (MORE)Behavioural

    CHDR MORE is a highly customizable platform which allows remote monitoring of patients and trial subjects, data ingestion, and data management. The current infrastructure includes an Android app to unobtrusively collect data from smartphone sensors, and a connection to the Withings Health online platform to collect wearable data. Data is stored on a secure server in a structured data scheme ensuring clear data management processes, forming a prerequisite for comprehensive data analysis. The Android app enables data collection from multiple smartphone sensors (e.g. location data, accelerometer and ambient light) as well as phone usage logs (e.g. app usage, calls and texts).

  • Withings Steel HRBehavioural

    The Withings Steel HR is a commercially available smartwatch that combines various sensors to measure activity (steps, sleep, etc.) and heart rate (HR). HR is measured using a PPG (photoplethysmogram, i.e. optically obtained volumetric measurement) based on a commercially available sensor (AS7000) incorporating low-noise and high-sensitivity analogue circuitry. The manufacturer supplies the algorithm for converting the PPG signal into HR values. Data is transferred from the watch to the smartphone using the Withings Health Mate app from where it will be uploaded to the output server.

  • Withings Body+ scaleBehavioural

    Body composition (weight, BMI and Skeletal Muscle Mass) can be assessed with the Withings Body+ smart scale at home. A smart phone is required to store data and send collected data to the output server. The device does not require charging.

  • Withings Blood Pressure MonitorBehavioural

    Blood pressure can be assessed with the automated Withings Blood Pressure Monitor at home. A smart phone is required to store data and send collected data to the output server. The device does not require charging

Study groups in NCT04999735
Study groupRoleWhat they receive
Patients with FSHDCHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor
Receives: Behavioral: CHDR Monitoring Remotely (MORE); Behavioral: Withings Steel HR; Behavioral: Withings Body+ scale; Behavioral: Withings Blood Pressure Monitor
Healthy controlsCHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor
Receives: Behavioral: CHDR Monitoring Remotely (MORE); Behavioral: Withings Steel HR; Behavioral: Withings Body+ scale; Behavioral: Withings Blood Pressure Monitor

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Social activity

    • Voice activation (probability of human voices in proximity)

    Measured: day 1 to day 42 (+/-3 days)

  2. Social activity

    • Phone (length of call, last 3 digits of phone number, number known/unknown)

    Measured: day 1 to day 42 (+/-3 days)

  3. Social activity

    • SMS (amount of characters, last 3 digits of phone number, number known/unknown)

    Measured: day 1 to day 42 (+/-3 days)

  4. Social activity

    • App usage (categories of apps, start time, running in background/foreground)

    Measured: day 1 to day 42 (+/-3 days)

  5. Social activity

    • Light sensor (lm)

    Measured: day 1 to day 42 (+/-3 days)

  6. Physical activity

    • Acceleration

    Measured: day 1 to day 42 (+/-3 days)

  7. Physical activity

    • Gyroscope

    Measured: day 1 to day 42 (+/-3 days)

  8. Physical activity

    • Magnetic field

    Measured: day 1 to day 42 (+/-3 days)

  9. Physical activity

    • Step count

    Measured: day 1 to day 42 (+/-3 days)

  10. Physical activity

    • Google Places

    Measured: day 1 to day 42 (+/-3 days)

  11. Physical activity

    • Relative location

    Measured: day 1 to day 42 (+/-3 days)

  12. Biometric data collected using the Withings Health platform:

    Withings Steel HR smartwatch

    • Sleep pattern (time of sleep, sleep phases)

    Measured: day 1 to day 42 (+/-3 days)

  13. Biometric data collected using the Withings Health platform:

    Withings Steel HR smartwatch

    -Heart rate data

    Measured: day 1 to day 42 (+/-3 days)

  14. Biometric data collected using the Withings Health platform:

    Withings Steel HR smartwatch

    -Physical activity (steps, walking distance)

    Measured: day 1 to day 42 (+/-3 days)

  15. Withings Body+ scale

    Weight (kg)

    Measured: day 1 to day 42 (+/-3 days)

  16. Withings Body+ scale

    Body composition (%)

    Measured: day 1 to day 42 (+/-3 days)

  17. Withings Blood Pressure Monitor

    Systolic blood pressure (mmHg)

    Measured: day 1 to day 42 (+/-3 days)

  18. Withings Blood Pressure Monitor

    Diastolic blood pressure (mmHg)

    Measured: day 1 to day 42 (+/-3 days)

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted11 Aug 2021
  2. Study start14 Apr 2019
  3. Primary completion4 Oct 2019
  4. Study completion4 Oct 2019

Resources

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
Case-control
Time perspective
Cross-sectional
Enrolment
58 participants (actual)
Target duration
1 Day
IDs, dates and publications
ClinicalTrials.gov ID
NCT04999735
Sponsor's protocol ID
CHDR1861
Other IDs
NL69288.056.19
Status last verified
Aug 2021
First submitted
2 Jul 2019
Last updated
9 Mar 2022
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • Zhuparris A, Maleki G, Koopmans I, Doll RJ, Voet N, Kraaij W, Cohen A, van Brummelen E, De Maeyer JH, Groeneveld GJ. Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study. JMIR Form Res. 2023 Mar 15;7:e41178. doi: 10.2196/41178.

    PubMed 36920465
  • Maleki G, Zhuparris A, Koopmans I, Doll RJ, Voet N, Cohen A, van Brummelen E, Groeneveld GJ, De Maeyer J. Objective Monitoring of Facioscapulohumeral Dystrophy During Clinical Trials Using a Smartphone App and Wearables: Observational Study. JMIR Form Res. 2022 Sep 13;6(9):e31775. doi: 10.2196/31775.

    PubMed 36098990

Questions about this trial

What is this clinical trial studying?

An observational study of Muscular Dystrophy, Facioscapulohumeral, run by Centre for Human Drug Research, Netherlands 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 14 inclusion and 10 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: finished, as of the sponsor's last update on 9 Mar 2022. 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?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Social activity (time frame: day 1 to day 42 (+/-3 days)). The study lists 18 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04999735, which also lists 2 linked publications.

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 9 Mar 2022.

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