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!