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March 4, 2016Annals of Clinical and Translational NeurologyOpen Access

Natural history of LGMD 2A for delineating outcome measures in clinical trials

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Key result

LGMD2A is a slowly progressive disorder where null mutations lead to a more severe phenotype, while compound heterozygote patients are the least affected.

Population

85 genetically confirmed Limb-girdle muscular dystrophy 2A (LGMD2A) patients, aged 14-65 years

Design

Cohort

Follow-up

up to 4 years

Authors

JHJean‐Yves HogrelSorbonne UniversitéDSDaniel StockholmUniversité Paris Sciences et LettresCPChristine PayanSorbonne Université

Discussion

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Implication

Informs genotype-specific prognosis in LGMD2A; leaves open prospective validation for trial endpoints.

Key Points

  • Characterize the clinical manifestations and long-term disease progression of limb-girdle muscular dystrophy 2A (LGMD2A) to delineate appropriate outcome measures for clinical trials.
  • Conducted a multicenter observational study of 85 genetically confirmed LGMD2A patients aged 14–65 years across three centers in metropolitan France, the Basque country, and Reunion Island.
  • Evaluated patients every 6 months for 2 years, with a subgroup followed annually for up to 4 years.
  • Assessed clinical history, blood markers, manual and quantitative muscle testing, functional scores, pulmonary and cardiac function, and lower-limb CT scans.
  • Confirmed a slowly progressive disease course with onset typically occurring in the first or second decade of life.
  • Observed that null mutations associate with a more severe phenotype, whereas compound heterozygotes display the mildest impairment.
  • Demonstrated that muscle weakness is symmetrical, predominates in trunk axial and proximal lower-limb muscles, and strongly correlates with muscle density loss on CT imaging.

Study Design

Type

Observational (n=85)

Multicenter

Yes

Structured PICO

P
Population
85 patients aged 14-65 years with genetically confirmed LGMD2A followed for up to 4 years to assess clinical manifestations and disease progression.
O
Outcome
Clinical manifestations and disease progression (including muscle strength, functional scores, pulmonary and cardiac functions)surrogate

This natural history study of LGMD2A delineates disease progression and phenotypic variability, providing essential data for determining endpoints in future clinical trials.

Cite This Study

Hogrel et al. (2016) conducted an observational in Limb-girdle muscular dystrophy 2A (LGMD2A) (n=85). LGMD2A mutations was evaluated on Clinical manifestations and disease progression. LGMD2A is a slowly progressive disorder where null mutations lead to a more severe phenotype, while compound heterozygote patients are the least affected.

synapsesocial.com/papers/6a972ed5bcdee4d4a085fa91https://doi.org/10.1002/acn3.287
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Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?2011 · 15 citations
  2. 2Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy2008 · 665 citations