What is the clinical evidence from this study?

Study design: Cohort. Population: Dysferlinopathy (n=187). Intervention: Time from symptom onset. Primary outcome: Change in North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) score over 1 year (mean change -1.73 points, 95% CI -2.33 to -1.14, p=<0.0001).

What does this research mean for the field?

The North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) detects significant clinical progression in dysferlinopathy over 1 year, with functional decline being steepest during the first 10 years after symptom onset and in younger-onset patients. Novelty: ClaimNovelty.METHODOLOGICAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

February 14, 2021Annals of NeurologyOpen Access

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

Q: What are the key findings of this study?

The North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) detected significant clinical progression in dysferlinopathy patients over 1 year, with a mean decline of 1.73 points.

Q: What does this research mean for the field?

The North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) detects significant clinical progression in dysferlinopathy over 1 year, with functional decline being steepest during the first 10 years after symptom onset and in younger-onset patients. Novelty: ClaimNovelty.METHODOLOGICAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

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Key result

NSAD detects clinical progression in dysferlinopathy over one year with a ~1.7 point mean decline.

mean change -1.73 points
95% CI -2.33 to -1.14
P<0.0001
n=187

Why the study?

Dysferlinopathy has highly variable presentation and unpredictable progression, complicating prognostication and clinical trial design, prompting evaluation of the NSAD scale.

Population

187 patients with dysferlinopathy

Design

Longitudinal cohort study

Follow-up

3 years

Authors

MJMarni JacobsUniversity of California, San Diego MJM. JamesNewcastle University LLLinda LowesNationwide Children's Hospital

Discussion

Member takes

Implication

May support NSAD as a trial endpoint in dysferlinopathy; leaves open routine clinical adoption pending interventional data.

Study Design

Type

Cohort (n=187)

Multicenter

Yes

Structured PICO

Population

187 patients with a confirmed diagnosis of dysferlinopathy, aged 11 to 86 years, followed for an average of 35 months to assess disease progression using a new motor scale.

Exposure

North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale

Outcome

Validity of the NSAD scale and identification of factors influencing the rate of disease progressionsurrogate

Main Result

Mean Difference: -1.73 (95% CI -2.33–-1.14)

p-value: p=<0.0001

The NSAD is a validated motor performance scale that can detect significant clinical progression in dysferlinopathy over 1 year, making it suitable for clinical trials.

Limitations

Change to the motor scale mid-study (a-NSAA and MFM-20 replaced by NSAD at year 2)
Small sample sizes for certain patient groups (e.g., Hispanic and Black patients) given the rarity of the disease
Subjectivity in patient-reported onset of symptoms
Timed function tests based on walking are unsuitable once a patient loses ambulation

Cite This Study

Jacobs et al. (2021) conducted a cohort in Dysferlinopathy (n=187). Time from symptom onset was evaluated on Change in North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) score over 1 year (mean change -1.73 points, 95% CI -2.33 to -1.14, p=<0.0001). The North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) detected significant clinical progression in dysferlinopathy patients over 1 year, with a mean decline of 1.73 points.

synapsesocial.com/papers/6aa5ec3cc34c6f6bfa64c7d1 https://doi.org/10.1002/ana.26044

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Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

Discussion

Member takes

Implication

Study Design

Structured PICO

Main Result

Limitations

Cite This Study

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

Discussion

Member takes

Implication

Study Design

Structured PICO

Main Result

Limitations

Cite This Study

Also Consider

Also Consider