TY - JOUR
T1 - Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series
AU - Sottani, Costanza
AU - Di Lazzaro, Giulia
AU - Calabresi, Paolo
AU - Pomponi, Maria Grazia
AU - Tiziano, Francesco Danilo
AU - Bentivoglio, Anna Rita
AU - Servidei, Serenella
AU - Vollono, Catello
PY - 2024
Y1 - 2024
N2 - Background: Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage-gated channel subunit alpha1 A (CACNA1A), ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), and sodium voltage-gated channel alpha subunit 1 (SCN1A) genes have a well-established association with the development of FHM. Recent studies suggest that other genes may also have a significant role in the pathogenesis of FHM, including proline-rich transmembrane protein 2 (PRRT2). To our knowledge, there are currently no documented reports of the use of monoclonal antibodies targeting calcitonin gene-related peptide in FHM caused by a specific identified genetic mutation – and in particular not in FHM associated with PRRT2 mutations. The aim of our work is to describe the efficacy of galcanezumab as a prophylaxis treatment on patients from an Italian family consisting of six patient carriers of a PRRT2 pathogenic variant. Methods: Inclusion criteria for treatment eligibility consisted of a confirmed diagnosis of genetically confirmed FHM as defined by the International Classification of Headache Disorders, third edition, number of headache days/month ≥4, and at least two previously failed migraine prophylaxis treatments. We evaluated clinical data of patients treated with galcanezumab regarding number of headache days/month, frequency of aura, disability caused by HM using the Migraine Disability Assessment (MIDAS), attack severity through a numerical rating scale (NRS), acute medications intake, and response to acute medications at baseline (t0) and after 3 (t1) and 6 (t2) months of treatment. Results: Three out of six family members met inclusion criteria for treatment with galcanezumab. The average number of headache days/month, acute medications, and MIDAS significantly decreased in all treated patients, as well as the average NRS score. Aura frequency reduced by ≥50% compared to the baseline in all three patients. No adverse events related to galcanezumab were reported. Conclusion: Galcanezumab is a valid and well-tolerated treatment option in PRRT2-associated FHM.
AB - Background: Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage-gated channel subunit alpha1 A (CACNA1A), ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), and sodium voltage-gated channel alpha subunit 1 (SCN1A) genes have a well-established association with the development of FHM. Recent studies suggest that other genes may also have a significant role in the pathogenesis of FHM, including proline-rich transmembrane protein 2 (PRRT2). To our knowledge, there are currently no documented reports of the use of monoclonal antibodies targeting calcitonin gene-related peptide in FHM caused by a specific identified genetic mutation – and in particular not in FHM associated with PRRT2 mutations. The aim of our work is to describe the efficacy of galcanezumab as a prophylaxis treatment on patients from an Italian family consisting of six patient carriers of a PRRT2 pathogenic variant. Methods: Inclusion criteria for treatment eligibility consisted of a confirmed diagnosis of genetically confirmed FHM as defined by the International Classification of Headache Disorders, third edition, number of headache days/month ≥4, and at least two previously failed migraine prophylaxis treatments. We evaluated clinical data of patients treated with galcanezumab regarding number of headache days/month, frequency of aura, disability caused by HM using the Migraine Disability Assessment (MIDAS), attack severity through a numerical rating scale (NRS), acute medications intake, and response to acute medications at baseline (t0) and after 3 (t1) and 6 (t2) months of treatment. Results: Three out of six family members met inclusion criteria for treatment with galcanezumab. The average number of headache days/month, acute medications, and MIDAS significantly decreased in all treated patients, as well as the average NRS score. Aura frequency reduced by ≥50% compared to the baseline in all three patients. No adverse events related to galcanezumab were reported. Conclusion: Galcanezumab is a valid and well-tolerated treatment option in PRRT2-associated FHM.
KW - calcitonin gene‐related peptide
KW - galcanezumab
KW - hemiplegic familial migraine
KW - proline‐rich transmembrane protein 2
KW - calcitonin gene‐related peptide
KW - galcanezumab
KW - hemiplegic familial migraine
KW - proline‐rich transmembrane protein 2
UR - http://hdl.handle.net/10807/301679
U2 - 10.1111/head.14840
DO - 10.1111/head.14840
M3 - Article
SN - 0017-8748
SP - N/A-N/A
JO - Headache
JF - Headache
ER -