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ORIGINAL RESEARCH article

Front. Neurol.
Sec. Neurogenetics
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1460187

"Living with" CACNA1A-related Hemiplegic Migraine, a disease concept model

Provisionally accepted
Donna Schaare Donna Schaare 1*Kendra Allison Kendra Allison 1Kara Skorge Kara Skorge 2Pangkong Fox Pangkong Fox 3Laina Lusk Laina Lusk 4Sara Sarasua Sara Sarasua 1Ingo Helbig Ingo Helbig 4Luigi Boccuto Luigi Boccuto 1
  • 1 Clemson University, Clemson, United States
  • 2 University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • 3 CACNA1A Foundation Inc, Norwalk, CT, United States
  • 4 Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States

The final, formatted version of the article will be published soon.

    Introduction: CACNA1A-related Hemiplegic Migraine (HM) is a rare neurological disorder distinguished by paroxysmal episodes of hemiparesis/hemiplegia with and without headache. Clinical features have been widely characterized, yet the impacts of the paroxysmal events on the patient and caregiver have not been thoroughly explored. Disease concept models are formal frameworks used to describe the lived experiences of patients and their families, offering a source for surrogate endpoints for clinical trials.We completed 13 semi-structured interviews with caregivers of 12 individuals diagnosed with CACNA1A-related HM. We methodically coded themes, grouping concepts into three domains. We measured the occurrence of concepts throughout all interviews and subgroups stratified by age categories.Results: Over 11 hours of interviews yielded 2,018 references to 27 distinct concepts. Established symptoms such as seizures (87 references; including status epilepticus 27 references), hemiparesis/hemiplegia (24 references), and unconsciousness (17 references) were referenced, as well as previously underreported symptoms such as apneic episodes (32 references), lost ability to eat (13 references), and vascular access challenges (10 references). The symptom impacts were largely medical (294 references), followed by health (101 references), emotional (36 references), daily living (28 references), and social (26 references). Caregiver impacts were the most referenced domain (995 references), with the pivotal effects seen in caregiver requirements (355 references), emotional (245 references), HM treatments (179 references), daily living (148 references), and health support (135 references).Discussion: CACNA1A-related HM is a complex disorder defined by serious paroxysmal events that affects a broad range of social and clinical domains. We systematically classified symptoms and impacts from HM episodes, creating a disease concept model to help develop surrogate endpoints for future clinical trials, and identified two opportunities to improve patient management, including a written emergency protocol and a transition plan for adolescents approaching adulthood.

    Keywords: CACNA1A1, Hemiplegic Migraine2, Disease Concept Model3, Impacts4, symptoms5, Caregivers6

    Received: 05 Jul 2024; Accepted: 16 Oct 2024.

    Copyright: © 2024 Schaare, Allison, Skorge, Fox, Lusk, Sarasua, Helbig and Boccuto. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Donna Schaare, Clemson University, Clemson, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.