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"Living with" CACNA1A-related hemiplegic migraine, a disease concept model

Donna Schaare1,2,3, Kendra Allison2, Kara Skorge4

  • 1Ph.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, United States.

Frontiers in Neurology
|November 18, 2024
PubMed

Insights

CACNA1A-related Hemiplegic Migraine (HM) significantly impacts patients and caregivers, affecting medical, emotional, and daily life domains. Understanding these impacts is crucial for developing better patient management strategies and clinical trial endpoints.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • CACNA1A-related Hemiplegic Migraine (HM) is a rare neurological disorder characterized by recurrent hemiplegic episodes.
  • While clinical features are known, the profound patient and caregiver impacts remain underexplored.
  • Disease concept models can elucidate lived experiences and inform clinical trial surrogate endpoints.

Purpose of the Study:

  • To systematically explore and classify the patient and caregiver impacts of CACNA1A-related HM.
  • To develop a disease concept model for CACNA1A-related HM.
  • To identify opportunities for improved patient management and clinical trial design.

Main Methods:

  • Conducted 13 semi-structured interviews with caregivers of 12 individuals diagnosed with CACNA1A-related HM.
  • Thematically coded interview data, grouping concepts into three domains.
  • Quantified concept frequency across interviews and stratified by age.

Main Results:

  • Over 11 hours of interviews revealed 2,018 references to 27 distinct concepts.
  • Key symptoms included seizures, hemiparesis/hemiplegia, unconsciousness, apneic episodes, and feeding difficulties.
  • Caregiver impacts were extensive, particularly in requirements, emotional well-being, and health support.

Conclusions:

  • CACNA1A-related HM is a complex disorder with wide-ranging social and clinical impacts.
  • A disease concept model was created to aid in developing surrogate endpoints for clinical trials.
  • Identified needs for improved patient management include emergency protocols and transition plans for adolescents.
Abstract

Keywords:
CACNA1Acaregiversdisease concept modelhemiplegic migraineimpactssymptoms

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