Home Monitoring of Adult Patients With SMA: a Pilot Multicenter Validation Study

NCT ID: NCT05839145

Last Updated: 2023-12-01

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Clinical Phase

NA

Total Enrollment

60 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-12-15

Study Completion Date

2024-01-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Muscular Atrophy, Spinal, Type II Muscular Atrophy, Spinal, Type III

Keywords

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Muscular Atrophy, Spinal Home monitoring BioImpedance

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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Home to onsite monitoring

Patients will be monitored and evaluate in a first time at home then onsite.

Group Type OTHER

Strength force measurment

Intervention Type OTHER

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

Time tests

Intervention Type OTHER

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

Motor scales

Intervention Type OTHER

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

Questionnaires

Intervention Type OTHER

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

Accelerometry

Intervention Type DEVICE

Patients physical activity will be measured at home using accelerometer sensors

MNR

Intervention Type OTHER

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

Bio-impedance analysis

Intervention Type OTHER

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

Onsite to Home monitoring

Patients will be monitored and evaluate in a first time onsite then at home .

Group Type OTHER

Strength force measurment

Intervention Type OTHER

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

Time tests

Intervention Type OTHER

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

Motor scales

Intervention Type OTHER

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

Questionnaires

Intervention Type OTHER

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

Accelerometry

Intervention Type DEVICE

Patients physical activity will be measured at home using accelerometer sensors

MNR

Intervention Type OTHER

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

Bio-impedance analysis

Intervention Type OTHER

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

Interventions

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Strength force measurment

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

Intervention Type OTHER

Time tests

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

Intervention Type OTHER

Motor scales

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

Intervention Type OTHER

Questionnaires

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

Intervention Type OTHER

Accelerometry

Patients physical activity will be measured at home using accelerometer sensors

Intervention Type DEVICE

MNR

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

Intervention Type OTHER

Bio-impedance analysis

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

Intervention Type OTHER

Other Intervention Names

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MyoGrip/Pinch 10mWT, 30STS, 6MWT, 9HPT

Eligibility Criteria

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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


* 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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Roche Pharma AG

INDUSTRY

Sponsor Role collaborator

Institut de Myologie, France

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHU d'Angers

Angers, , France

Site Status

CHU de Lille

Lille, , France

Site Status

CHU de Nantes

Nantes, , France

Site Status

Institute of Myology

Paris, , France

Site Status

CHU de Reims

Reims, , France

Site Status

CHRU de Tours

Tours, , France

Site Status

Countries

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France

Central Contacts

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Guillaume Bassez, MD

Role: CONTACT

Phone: 01 42 16 58 58

Email: [email protected]

Facility Contacts

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Marco Spinazzi, MD

Role: primary

Céline Tard, MD

Role: primary

Yann Pereon, MD

Role: primary

Guillaume Bassez, MD

Role: primary

François Boyer, Pr

Role: primary

Sybille Pellieux, MD

Role: primary

Other Identifiers

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SMA-AtHome

Identifier Type: -

Identifier Source: org_study_id