Spinal muscular atrophy neuromuscular disease
Conditions
Interventions
Risdiplam and HAL are both approved drugs and approved devices, respectively. They will be used according to their approved dosages, usage purposes, or precautions regarding their effects. During Risd
MeSH Unique ID: D003131, D016896
Combined Modality Therapy, Treatment outcome
Sponsors
Nakajima Takashi
Nishi Kazuhiko
Chugai Pharmaceutical Co., Ltd.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients diagnosed with autosomal recessive SMA with a mutation in the long arm of chromosome 5, who are currently undergoing Risdiplam treatment as part of their standard care or are scheduled to start this treatment. 2. Patients who meet one of the following conditions and require ambulatory therapy: - Unable to walk independently but capable of performing walking exercises* with assistance or appropriate walking aids. - Able to walk independently, but due to the progression of SMA, their walking ability has decreased, and they require assistance or appropriate walking aids. *: Alternating leg movements. 3.Patients who can wear the HAL for Medical Use - Lower Limb Type, Medical HAL Lower Limb Type B (weighing 15 kg or more and approximately 100 cm or taller). 4. Patients who can attend outpatient visits or be hospitalized according to the study schedule during the study period. 5. Patients who have given written consent. Written consent from both the patient and the guardian is required for those aged 16 to under 18. For those under 16, written consent from the guardian and, if possible, assent from the patient via an assent form is required.
Exclusion criteria
Exclusion criteria: 1. Patients unable to undergo ambulatory therapy or evaluation due to exertional dyspnea, heart failure, arrhythmia, myocardial infarction, or other similar conditions. 2.Patients who cannot wear the HAL for Medical Use - Lower Limb Type, Medical HAL Lower Limb Type B due to significant body deformities or other reasons. 3. Patients with complications such as a tendency to bleed or osteoporosis that pose problems for ambulatory therapy. 4. Patients with severe liver dysfunction (judged with reference to Child-Pugh classification C). 5. Pregnant patients, patients who might be pregnant, or patients who wish to become pregnant during the study period. 6. Patients unable to attach the HAL bioelectrode due to skin conditions. 7.Patients unable to perform hip and knee joint movements in CVC mode using the HAL for Medical Use - Lower Limb Type, Medical HAL Lower Limb Type B or HAL for Well-Being Lower Limb Type Pro (2S size), or those in whom the floor reaction force sensor does not work. 8. Patients scheduled to undergo surgeries** that might affect the evaluation of walking function before completing the 12-month evaluation. **Such as surgeries for scoliosis, fractures, tendon lengthening, or any other surgery that the physician believes will affect walking function. 9. Patients who have undergone surgeries** or treatments for injuries that might affect the evaluation of walking function within the past 3 months from the initial registration. Even if more than 3 months have passed, patients will still be excluded if the physician determines that there are residual effects on walking function. 10. Patients who have undergone ambulatory therapy using the HAL for Medical Use - Lower Limb Type, Medical HAL Lower Limb Type B or HAL for Well-Being Lower Limb Type Pro within the past year from the initial registration. 11. Patients who have participated in clinical studies using investigational or unapproved drugs or medical devices within the past 3 months from the initial registration. 12. Patients deemed inappropriate for participation in this study by the principal investigator or sub-investigator.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change in the 2-Minute Walk Test (2MWT) distance from baseline to 12 months after the start of the combined therapy. | — |
Secondary
| Measure | Time frame |
|---|---|
| Change in the 2-Minute Walk Test (2MWT) distance from baseline to 24 months after the start of the combined therapy. Change in the following item distance from baseline to 12 and 24 months after the start of the combined therapy. Muscle power (MRC sum score) RULM(Revised Upper Limb Module)score Hammersmith Functional Motor Scale, Expanded(HFMSE) score Spinal Muscular Atrophy Independence Scale Ambulatory Module(SMAIS-ambulatory) score EuroQol 5 Dimensions 5-Level(EQ-5D-5L)score Thigh muscle imaging examination (MRI) | — |
Contacts
Public ContactTakashi Nakajima
National Hospital Organaization Niigata National Hospital
Outcome results
None listed