Home Monitoring of Adult Patients With SMA: a Pilot Multicenter Validation Study (SMA-AtHome)

November 2, 2026 updated by: Institut de Myologie, France

There is no complete cure for SMA yet. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA - a gene replacement therapy called Zolgensma, and two drugs, called Nusinersen (Spinraza) and Risdiplam (Evyrsdi). In this context, the evaluation of efficacy and the long term follow-up of patients treated with these innovative treatments in clinical routine is one of the critical points. These evaluations are carried out in a medical context (clinical sites or research unit) using validated measurement tools and outcome measures. Carrying out these evaluations in a controlled environment can be considered from certain aspects as an advantage (reproducibility of measures, neutral environment, etc.), but also raises a certain number of questions regarding the impact on patients, the financial cost, or the relevance of the data obtained in an unnatural environment (stress, fatigue, patient motivation…). Also the regulatory authorities ask for longitudinal data for deciding to reimburse these expensive treatments. As such, the hospital cannot digest all these evaluations due to a lack of resources.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Withdrawn

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

In the last few years, a number of therapeutic approaches have targeted a possible increase of the production of SMN protein in target motor neurons by genetic replacement of the defective SMN1 gene or by modifying pre-mRNA splicing in SMN2 to promote exon 7 inclusion by using an antisense oligonucleotide or small molecule drugs. Several clinical studies have focused on the evaluation of patients with SMA, whether they are ambulatory or not, adults, children or infants, treated or untreated.

Depending on the SMA type, age or ambulatory status of the patients, different assessments (motor function scales or questionnaires) have provided consistent results to measure the evolution of the patients, such as HFMSE, MFM, RULM, 6MWT, MRC scale, Chop Intend or HINE.

As these evaluations are generally carried out in a controlled environment, they are likely to present an environmental bias. Even if studies are designed to anticipate and avoid most of these issues, different factors can influence patient test results (fatigue, motivation, stress, day to day variability…). From an economical point of view, the evaluation of patients in a controlled environment also has a significant cost, which heavily impact the global cost of clinical research or standard care (transport, patients' accommodation and care…). This factor is even more important as a significant proportion of the SMA population is non-ambulatory.

New treatments are indicated to treat SMA with a major impact on pre-existing disease standards of care and patients care pathway. In particular, there is no consensus on appropriate measures to monitor disease progression and treatment effect in a real-world setting. Such measures are critically needed to discuss treatment indication (treatment initiation criteria and stopping rules, therapeutic goals) and treatment monitoring. While patient reported outcome measures (PROMs) become more represented, objective functional measures are still required to assess SMA. In spite of the development of digital measures, no validated patient self-reported functional measures can be used as a surrogate. Thus, the objective disease assessment is currently based on validated outcome measures for SMA, similar to those used in clinical studies. As compared to clinical trials, the feasibility to administer these measures to SMA patients is challenging. Major limiting factors are: (1) the high disease-prevalence, (2) time-consuming measures, (3) the need for trained expert evaluators, and (4) limited access to hospital-based resources. In addition, the burden of affected individuals and caregivers has not been evaluated as well as patient treatment monitoring expectations. A refined approach using modern tools and fitting with patient real life environment is needed.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Angers, France, 49933
        • CHU d'Angers
      • Lille, France, 59000
        • CHU de Lille
      • Nantes, France, 44093
        • CHU de Nantes
      • Paris, France, 75013
        • Institute of Myology
      • Reims, France, 51092
        • CHU de Reims
      • Tours, France, 37044
        • CHRU de Tours

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Age > 18 years
  • Confirmed SMA type 2 or 3 diagnostic
  • Written informed consent
  • Able to comply with all protocol requirements
  • Affiliate or beneficiary of a social security scheme

Non-Inclusion Criteria:

  • Inability to carry out assessments at home
  • Claustrophobia (only for patients from Paris and Lille sites)
  • Guardianship/trusteeship
  • Pregnant or nursing women

Exclusion criteria:

  • Inability to comply with protocol requirements
  • Any medical and social conditions that could interfere with the study under the appreciation of the medical coordinator

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Other: Home to onsite monitoring

Patients will be monitored and evaluate in a first time at home then onsite.
Other: Strength force measurment

The grip and pinch strength of the patient will be evaluate using dedicated devices (MyoGrip and MyoPinch)

Other Names:
  • MyoGrip/Pinch
Other: Time tests

Lower and upper limb capacities of the patients will be measured during timed tests

Other Names:
  • 10mWT, 30STS, 6MWT, 9HPT
Other: Motor scales

Patient's motor functional abilities will be evaluated using specific motor scales (MFM32, RULM)

Other: Questionnaires

Patients and caregivers quality of life will be measured with different questionnaires (SMA-FRS, QOL-gNMD, SMAIS, PREM)

Device: Accelerometry

Patients physical activity will be measured at home using accelerometer sensors

Other: MNR

Sub-group of patients will perform an NMR imaging to evaluate the intramuscular fatty infiltration in thighs and muscle volume in thighs

Other: Bio-impedance analysis

The patients' muscular and fatty volume will be evaluated using BIA technic (compared to MNR)
Other: Onsite to Home monitoring

Patients will be monitored and evaluate in a first time onsite then at home .
Other: Strength force measurment

The grip and pinch strength of the patient will be evaluate using dedicated devices (MyoGrip and MyoPinch)

Other Names:
  • MyoGrip/Pinch
Other: Time tests

Lower and upper limb capacities of the patients will be measured during timed tests

Other Names:
  • 10mWT, 30STS, 6MWT, 9HPT
Other: Motor scales

Patient's motor functional abilities will be evaluated using specific motor scales (MFM32, RULM)

Other: Questionnaires

Patients and caregivers quality of life will be measured with different questionnaires (SMA-FRS, QOL-gNMD, SMAIS, PREM)

Device: Accelerometry

Patients physical activity will be measured at home using accelerometer sensors

Other: MNR

Sub-group of patients will perform an NMR imaging to evaluate the intramuscular fatty infiltration in thighs and muscle volume in thighs

Other: Bio-impedance analysis

The patients' muscular and fatty volume will be evaluated using BIA technic (compared to MNR)

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
To compare the results of physical evaluations between home and hospital
Time Frame: Through study completion, an average of 3 weeks

Evaluation of the correlations between results obtained during the physical evaluations at home compared to those obtained at hospital
Through study completion, an average of 3 weeks

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
To determine the barriers for evaluation at home
Time Frame: Through study completion, an average of 3 weeks

Inventory of items and assessments not carried out at home due to the environment
Through study completion, an average of 3 weeks
Correlation of home and hospital muscle volume measurement methods
Time Frame: Through study completion, an average of 3 weeks

Comparison of muscle volumes measured by bio-impedancemetry with those obtained by MRI.
Through study completion, an average of 3 weeks
Correlation of home and hospital MyoGrip measurement
Time Frame: Through study completion, an average of 3 weeks

Comparison of MyoGrip measurements obtained at home and at the hospital.
Through study completion, an average of 3 weeks
Correlation of home and hospital MyoPinch measurement
Time Frame: Through study completion, an average of 3 weeks

Comparison of MyoPinch measurements obtained at home and at the hospital.
Through study completion, an average of 3 weeks
Correlation of home and hospital MFM results
Time Frame: Through study completion, an average of 3 weeks

Comparison of MFM evaluation results obtained at home and at the hospital.
Through study completion, an average of 3 weeks
Correlation of home and hospital RULM results
Time Frame: Through study completion, an average of 3 weeks

Comparison of RULM evaluation results obtained at home and at the hospital.
Through study completion, an average of 3 weeks
Correlation of home and hospital 30STS tests results
Time Frame: Through study completion, an average of 3 weeks

Comparison of 30STS measurements obtained at home and at the hospital.
Through study completion, an average of 3 weeks
Correlation of home and hospital 9HPT results
Time Frame: Through study completion, an average of 3 weeks

Comparison of 9HPT measurements obtained at home and at the hospital.
Through study completion, an average of 3 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Institut de Myologie, France

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Roche Pharma AG

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
February 6, 2024

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
March 1, 2024

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
March 1, 2024

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
December 2, 2022

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 20, 2023

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
May 3, 2023

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
November 4, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 2, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
November 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • SMA-AtHome

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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