Digital Biotyping of FSHD Patients and Controls
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Interventions
- Behavioral: CHDR Monitoring Remotely (MORE)Behavioral: Withings Steel HRBehavioral: Withings Body+ scaleBehavioral: Withings Blood Pressure Monitor
- Registration Number
- NCT04999735
- Lead Sponsor
- Centre for Human Drug Research, Netherlands
- Brief 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 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 58
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.
- 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.
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:
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients with FSHD Withings Blood Pressure Monitor CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor Patients with FSHD CHDR Monitoring Remotely (MORE) CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor Patients with FSHD Withings Body+ scale CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor Healthy controls Withings Body+ scale CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor Healthy controls Withings Blood Pressure Monitor CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor Patients with FSHD Withings Steel HR CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor Healthy controls CHDR Monitoring Remotely (MORE) CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor Healthy controls Withings Steel HR CHDR Monitoring Remotely (MORE) Withings Steel HR Withings Body+ scale Withings Blood Pressure Monitor
- Primary Outcome Measures
Name Time Method Physical activity day 1 to day 42 (+/-3 days) - Relative location
Withings Body+ scale day 1 to day 42 (+/-3 days) Body composition (%)
Biometric data collected using the Withings Health platform: day 1 to day 42 (+/-3 days) Withings Steel HR smartwatch
-Physical activity (steps, walking distance)Withings Blood Pressure Monitor day 1 to day 42 (+/-3 days) Diastolic blood pressure (mmHg)
Social activity day 1 to day 42 (+/-3 days) - Light sensor (lm)
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Centre for Human Drug Research
🇳🇱Leiden, Zuid Holland, Netherlands