Onasemnogene abeparvovec for Treatment-Experienced SMA Patients: Phase 3b Trial Results
okay, here’s a breakdown of the assessment tools described in the text, summarizing their purpose, scoring, and relevant references:
1. Hammersmith Functional Motor Scale (HFMSE) & Modified Hammersmith Functional Motor Scale (MHFMSE)
* Purpose: Measures gross motor function in children with neuromuscular conditions, specifically spinal Muscular Atrophy (SMA).
* Scoring: A three-point Likert scale (0 = no response, 1 = partial response, 2 = full response). total score range is 0-66. Higher scores indicate better motor ability.
* References:
* Krosschell, K. J.et al. (2011). Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy. Muscle Nerve 44, 246-251. (Reference 17)
* Glanzman, A.M. et al. (2011). Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.J. Child Neurol. 26, 1499-1507. (Reference 18)
2. revised Upper Limb Module (RULM)
* Purpose: Assesses upper limb function in young children, non-ambulatory children, and those with low scores on the HFMSE (indicating a “floor effect”). Specifically designed for SMA.
* Scoring: 19 items. 18 items are scored 0 (unable) to 2 (full achievement),and 1 item is scored 0 (unable) to 1 (able). Total score range is 0-37. Higher scores indicate better upper limb ability.
* Reference:
* Pera, M.C. et al. (2019). Revised upper limb module for spinal muscular atrophy: 12 month changes. Muscle Nerve 59, 426-430. (Reference 19)
3. Assessment of Caregiver Experience with Neuromuscular Disease (ACEND)
* Purpose: Quantifies the impact of caring for a child with a severe neuromuscular disease (including SMA) on the caregiver.
* Scoring: Seven subdomains assessing physical impact (feeding, grooming, mobility, etc.) and general caregiver impact (time, emotion, finance).Items are scored on a 6-point or 5-point ordinal scale. Domain and total impact scores are generated to summarize the caregiver’s experience. Higher scores indicate a greater impact on the caregiver.
* Reference:
* Matsumoto, H. et al. (2011). Progress and initial validation of the assessment of caregiver experience with neuromuscular disease. J. Pediatr. Orthop. 31, 284-292. (Reference 20)
Key Points:
* All these assessments are validated tools.
* The HFMSE and RULM are administered by trained clinical evaluators (physical therapists, occupational therapists, or equivalents).
* The ACEND is completed by the primary parent or caregiver.
Let me know if you’d like me to elaborate on any of these tools or have other questions!