Management of CLN1 Disease: International Clinical Consensus

Erika F Augustine; Heather R Adams; Emily de Los Reyes; Kristen Drago; Margie Frazier; Norberto Guelbert; Minna Laine; Tanya Levin; Jonathan W Mink; Miriam Nickel; Danielle Peifer; Angela Schulz; Alessandro Simonati; Meral Topcu; Joni A Turunen; Ruth Williams; Elaine C Wirrell; Sharon King

doi:10.1016/j.pediatrneurol.2021.04.002

Management of CLN1 Disease: International Clinical Consensus

Standard

Management of CLN1 Disease: International Clinical Consensus. / Augustine, Erika F; Adams, Heather R; de Los Reyes, Emily; Drago, Kristen; Frazier, Margie; Guelbert, Norberto; Laine, Minna; Levin, Tanya; Mink, Jonathan W; Nickel, Miriam; Peifer, Danielle; Schulz, Angela; Simonati, Alessandro; Topcu, Meral; Turunen, Joni A; Williams, Ruth; Wirrell, Elaine C; King, Sharon.

in: PEDIATR NEUROL, Jahrgang 120, 07.2021, S. 38-51.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Augustine, EF, Adams, HR, de Los Reyes, E, Drago, K, Frazier, M, Guelbert, N, Laine, M, Levin, T, Mink, JW, Nickel, M, Peifer, D, Schulz, A, Simonati, A, Topcu, M, Turunen, JA, Williams, R, Wirrell, EC & King, S 2021, 'Management of CLN1 Disease: International Clinical Consensus', PEDIATR NEUROL, Jg. 120, S. 38-51. https://doi.org/10.1016/j.pediatrneurol.2021.04.002

APA

Augustine, E. F., Adams, H. R., de Los Reyes, E., Drago, K., Frazier, M., Guelbert, N., Laine, M., Levin, T., Mink, J. W., Nickel, M., Peifer, D., Schulz, A., Simonati, A., Topcu, M., Turunen, J. A., Williams, R., Wirrell, E. C., & King, S. (2021). Management of CLN1 Disease: International Clinical Consensus. PEDIATR NEUROL, 120, 38-51. https://doi.org/10.1016/j.pediatrneurol.2021.04.002

Vancouver

Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N et al. Management of CLN1 Disease: International Clinical Consensus. PEDIATR NEUROL. 2021 Jul;120:38-51. https://doi.org/10.1016/j.pediatrneurol.2021.04.002

Bibtex

@article{e74c685ab039428590bcb257c6f6289f,

title = "Management of CLN1 Disease: International Clinical Consensus",

abstract = "BACKGROUND: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted the disease course. We sought to evaluate current evidence and to develop expert practice consensus to support clinicians who have not previously encountered patients with this rare disease.METHODS: We searched the literature for guidelines and evidence to support clinical practice recommendations. We surveyed CLN1 disease experts and caregivers regarding their experiences and recommendations, and a meeting of experts was conducted to ascertain points of consensus and clinical practice differences.RESULTS: We found a limited evidence base for treatment and no clinical management guidelines specific to CLN1 disease. Fifteen CLN1 disease experts and 39 caregivers responded to the surveys, and 14 experts met to develop consensus-based recommendations. The resulting management recommendations are uniquely informed by family perspectives, due to the inclusion of caregiver and advocate perspectives. A family-centered approach is supported, and individualized, multidisciplinary care is emphasized in the recommendations. Ascertainment of the specific CLN1 disease phenotype (infantile-, late infantile-, juvenile-, or adult-onset) is of key importance in informing the anticipated clinical course, prognosis, and care needs. Goals and strategies should be periodically reevaluated and adapted to patients' current needs, with a primary aim of optimizing patient and family quality of life.",

author = "Augustine, {Erika F} and Adams, {Heather R} and {de Los Reyes}, Emily and Kristen Drago and Margie Frazier and Norberto Guelbert and Minna Laine and Tanya Levin and Mink, {Jonathan W} and Miriam Nickel and Danielle Peifer and Angela Schulz and Alessandro Simonati and Meral Topcu and Turunen, {Joni A} and Ruth Williams and Wirrell, {Elaine C} and Sharon King",

year = "2021",

month = jul,

doi = "10.1016/j.pediatrneurol.2021.04.002",

language = "English",

volume = "120",

pages = "38--51",

journal = "PEDIATR NEUROL",

issn = "0887-8994",

publisher = "Elsevier Inc.",

}

RIS

TY - JOUR

T1 - Management of CLN1 Disease: International Clinical Consensus

AU - Augustine, Erika F

AU - Adams, Heather R

AU - de Los Reyes, Emily

AU - Drago, Kristen

AU - Frazier, Margie

AU - Guelbert, Norberto

AU - Laine, Minna

AU - Levin, Tanya

AU - Mink, Jonathan W

AU - Nickel, Miriam

AU - Peifer, Danielle

AU - Schulz, Angela

AU - Simonati, Alessandro

AU - Topcu, Meral

AU - Turunen, Joni A

AU - Williams, Ruth

AU - Wirrell, Elaine C

AU - King, Sharon

PY - 2021/7

Y1 - 2021/7

N2 - BACKGROUND: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted the disease course. We sought to evaluate current evidence and to develop expert practice consensus to support clinicians who have not previously encountered patients with this rare disease.METHODS: We searched the literature for guidelines and evidence to support clinical practice recommendations. We surveyed CLN1 disease experts and caregivers regarding their experiences and recommendations, and a meeting of experts was conducted to ascertain points of consensus and clinical practice differences.RESULTS: We found a limited evidence base for treatment and no clinical management guidelines specific to CLN1 disease. Fifteen CLN1 disease experts and 39 caregivers responded to the surveys, and 14 experts met to develop consensus-based recommendations. The resulting management recommendations are uniquely informed by family perspectives, due to the inclusion of caregiver and advocate perspectives. A family-centered approach is supported, and individualized, multidisciplinary care is emphasized in the recommendations. Ascertainment of the specific CLN1 disease phenotype (infantile-, late infantile-, juvenile-, or adult-onset) is of key importance in informing the anticipated clinical course, prognosis, and care needs. Goals and strategies should be periodically reevaluated and adapted to patients' current needs, with a primary aim of optimizing patient and family quality of life.

AB - BACKGROUND: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted the disease course. We sought to evaluate current evidence and to develop expert practice consensus to support clinicians who have not previously encountered patients with this rare disease.METHODS: We searched the literature for guidelines and evidence to support clinical practice recommendations. We surveyed CLN1 disease experts and caregivers regarding their experiences and recommendations, and a meeting of experts was conducted to ascertain points of consensus and clinical practice differences.RESULTS: We found a limited evidence base for treatment and no clinical management guidelines specific to CLN1 disease. Fifteen CLN1 disease experts and 39 caregivers responded to the surveys, and 14 experts met to develop consensus-based recommendations. The resulting management recommendations are uniquely informed by family perspectives, due to the inclusion of caregiver and advocate perspectives. A family-centered approach is supported, and individualized, multidisciplinary care is emphasized in the recommendations. Ascertainment of the specific CLN1 disease phenotype (infantile-, late infantile-, juvenile-, or adult-onset) is of key importance in informing the anticipated clinical course, prognosis, and care needs. Goals and strategies should be periodically reevaluated and adapted to patients' current needs, with a primary aim of optimizing patient and family quality of life.

U2 - 10.1016/j.pediatrneurol.2021.04.002

DO - 10.1016/j.pediatrneurol.2021.04.002

M3 - SCORING: Journal article

C2 - 34000449

VL - 120

SP - 38

EP - 51

JO - PEDIATR NEUROL

JF - PEDIATR NEUROL

SN - 0887-8994

ER -