Sirolimus Treatment in Sturge-Weber Syndrome
Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapa...
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| Published in | Pediatric neurology Vol. 115; pp. 29 - 40 |
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| Main Authors | , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.02.2021
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| Subjects | |
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| Abstract | Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome.
Ten patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled. Oral sirolimus was taken for six months (maximum dose: 2 mg/day, target trough level: 4-6 ng/mL). Neuropsychological testing, electroencephalography, and port-wine score were performed at baseline and after six months on sirolimus. Neuroquality of life, adverse events, and Sturge-Weber Syndrome Neurological Score (neuroscore) were recorded at each visit.
Sirolimus was generally well tolerated; one subject withdrew early. Adverse events considered related to sirolimus were mostly (15/16) grade 1. A significant increase in processing speed was seen in the overall group (P = 0.031); five of nine patients with available data demonstrated statistically rare improvement in processing speed. Improvements were seen in the neuroquality of life subscales measuring anger (P = 0.011), cognitive function (P = 0.015), and depression (P = 0.046). Three subjects experiencing SLEs before and during the study reported shortened recovery times while on sirolimus.
Sirolimus was well tolerated in individuals with Sturge-Weber syndrome and may be beneficial for cognitive impairments, especially in patients with impaired processing speed or a history of SLE. A future, randomized, placebo-controlled trial of sirolimus in patients with Sturge-Weber syndrome is needed to further understand these potentially beneficial effects. |
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| AbstractList | Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome.BACKGROUNDSturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome.Ten patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled. Oral sirolimus was taken for six months (maximum dose: 2 mg/day, target trough level: 4-6 ng/mL). Neuropsychological testing, electroencephalography, and port-wine score were performed at baseline and after six months on sirolimus. Neuroquality of life, adverse events, and Sturge-Weber Syndrome Neurological Score (neuroscore) were recorded at each visit.METHODSTen patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled. Oral sirolimus was taken for six months (maximum dose: 2 mg/day, target trough level: 4-6 ng/mL). Neuropsychological testing, electroencephalography, and port-wine score were performed at baseline and after six months on sirolimus. Neuroquality of life, adverse events, and Sturge-Weber Syndrome Neurological Score (neuroscore) were recorded at each visit.Sirolimus was generally well tolerated; one subject withdrew early. Adverse events considered related to sirolimus were mostly (15/16) grade 1. A significant increase in processing speed was seen in the overall group (P = 0.031); five of nine patients with available data demonstrated statistically rare improvement in processing speed. Improvements were seen in the neuroquality of life subscales measuring anger (P = 0.011), cognitive function (P = 0.015), and depression (P = 0.046). Three subjects experiencing SLEs before and during the study reported shortened recovery times while on sirolimus.RESULTSSirolimus was generally well tolerated; one subject withdrew early. Adverse events considered related to sirolimus were mostly (15/16) grade 1. A significant increase in processing speed was seen in the overall group (P = 0.031); five of nine patients with available data demonstrated statistically rare improvement in processing speed. Improvements were seen in the neuroquality of life subscales measuring anger (P = 0.011), cognitive function (P = 0.015), and depression (P = 0.046). Three subjects experiencing SLEs before and during the study reported shortened recovery times while on sirolimus.Sirolimus was well tolerated in individuals with Sturge-Weber syndrome and may be beneficial for cognitive impairments, especially in patients with impaired processing speed or a history of SLE. A future, randomized, placebo-controlled trial of sirolimus in patients with Sturge-Weber syndrome is needed to further understand these potentially beneficial effects.CONCLUSIONSSirolimus was well tolerated in individuals with Sturge-Weber syndrome and may be beneficial for cognitive impairments, especially in patients with impaired processing speed or a history of SLE. A future, randomized, placebo-controlled trial of sirolimus in patients with Sturge-Weber syndrome is needed to further understand these potentially beneficial effects. Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome. Ten patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled. Oral sirolimus was taken for six months (maximum dose: 2 mg/day, target trough level: 4-6 ng/mL). Neuropsychological testing, electroencephalography, and port-wine score were performed at baseline and after six months on sirolimus. Neuroquality of life, adverse events, and Sturge-Weber Syndrome Neurological Score (neuroscore) were recorded at each visit. Sirolimus was generally well tolerated; one subject withdrew early. Adverse events considered related to sirolimus were mostly (15/16) grade 1. A significant increase in processing speed was seen in the overall group (P = 0.031); five of nine patients with available data demonstrated statistically rare improvement in processing speed. Improvements were seen in the neuroquality of life subscales measuring anger (P = 0.011), cognitive function (P = 0.015), and depression (P = 0.046). Three subjects experiencing SLEs before and during the study reported shortened recovery times while on sirolimus. Sirolimus was well tolerated in individuals with Sturge-Weber syndrome and may be beneficial for cognitive impairments, especially in patients with impaired processing speed or a history of SLE. A future, randomized, placebo-controlled trial of sirolimus in patients with Sturge-Weber syndrome is needed to further understand these potentially beneficial effects. |
| Author | Comi, Anne M. Mizuno, Tomoyuki Suskauer, Stacy J. Day, Alyssa M. Sebold, Alison J. Ewen, Joshua Smegal, Lindsay Vinks, Alexander Zabel, T. Andrew Thomas, Cameron Hammill, Adrienne M. Ryan, Matthew Sievers, Jacqueline Kossoff, Eric H. Byars, Anna Adamek, Jack Cohen, Bernard |
| AuthorAffiliation | k Clinical Trials Compliance and Quality Assurance, Kennedy Krieger Institute, Baltimore, Maryland, USA e Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA f Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA m Johns Hopkins University School of Medicine, Departments of Physical Medicine and Rehabilitation, Baltimore, Maryland, USA g Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD USA h Johns Hopkins Hospital, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA a Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland, USA c Department of Psychological and Brain Sciences, Johns Hopkins University, Baltimore, Maryland, USA d Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA b Department of Neurology, Johns Hopkins University School o |
| AuthorAffiliation_xml | – name: c Department of Psychological and Brain Sciences, Johns Hopkins University, Baltimore, Maryland, USA – name: g Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD USA – name: l Department of Pediatric Rehabilitation Medicine, Krieger Institute, Baltimore, Maryland, USA – name: e Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA – name: a Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland, USA – name: d Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA – name: n Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA – name: b Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA – name: h Johns Hopkins Hospital, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA – name: o Cancer and Blood Diseases Institute, Division of Hematology, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH USA – name: k Clinical Trials Compliance and Quality Assurance, Kennedy Krieger Institute, Baltimore, Maryland, USA – name: m Johns Hopkins University School of Medicine, Departments of Physical Medicine and Rehabilitation, Baltimore, Maryland, USA – name: i Division of Clinical Pharmacology, Cincinnati Children’s Hospital Medical Center, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA – name: j Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland, USA – name: f Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA |
| Author_xml | – sequence: 1 givenname: Alison J. surname: Sebold fullname: Sebold, Alison J. organization: Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland – sequence: 2 givenname: Alyssa M. surname: Day fullname: Day, Alyssa M. organization: Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland – sequence: 3 givenname: Joshua surname: Ewen fullname: Ewen, Joshua organization: Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland – sequence: 4 givenname: Jack surname: Adamek fullname: Adamek, Jack organization: Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland – sequence: 5 givenname: Anna surname: Byars fullname: Byars, Anna organization: Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio – sequence: 6 givenname: Bernard surname: Cohen fullname: Cohen, Bernard organization: Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland – sequence: 7 givenname: Eric H. surname: Kossoff fullname: Kossoff, Eric H. organization: Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland – sequence: 8 givenname: Tomoyuki surname: Mizuno fullname: Mizuno, Tomoyuki organization: Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio – sequence: 9 givenname: Matthew surname: Ryan fullname: Ryan, Matthew organization: Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland – sequence: 10 givenname: Jacqueline surname: Sievers fullname: Sievers, Jacqueline organization: Clinical Trials Compliance and Quality Assurance, Kennedy Krieger Institute, Baltimore, Maryland – sequence: 11 givenname: Lindsay surname: Smegal fullname: Smegal, Lindsay organization: Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland – sequence: 12 givenname: Stacy J. surname: Suskauer fullname: Suskauer, Stacy J. organization: Johns Hopkins Hospital, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland – sequence: 13 givenname: Cameron surname: Thomas fullname: Thomas, Cameron organization: Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio – sequence: 14 givenname: Alexander surname: Vinks fullname: Vinks, Alexander organization: Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio – sequence: 15 givenname: T. Andrew surname: Zabel fullname: Zabel, T. Andrew organization: Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, Maryland – sequence: 16 givenname: Adrienne M. surname: Hammill fullname: Hammill, Adrienne M. organization: Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio – sequence: 17 givenname: Anne M. surname: Comi fullname: Comi, Anne M. email: comi@kennedykrieger.org organization: Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland |
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| Keywords | Stroke qEEG Sirolimus mTOR pathway Seizure Cognitive function Sturge-Weber syndrome Drug trial |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Drs. Comi and Hammill contributed equally to last authorship. Present Address: Department of Developmental Cognitive Neurology, Kennedy Krieger Institute, Baltimore, Maryland, USA (dayaly@kennedykrieger.org) |
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| Title | Sirolimus Treatment in Sturge-Weber Syndrome |
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