TY - JOUR
T1 - Management of CLN1 Disease
T2 - 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
N1 - Publisher Copyright:
© 2021 The Authors
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.
KW - Clinical care
KW - Drug-resistant epilepsy
KW - Infantile neuronal ceroid lipofuscinosis
KW - Lysosomal storage disease
KW - PPT1
KW - Palliative care
KW - Palmitoyl-protein thioesterase 1
KW - Rare disease
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U2 - 10.1016/j.pediatrneurol.2021.04.002
DO - 10.1016/j.pediatrneurol.2021.04.002
M3 - Article
C2 - 34000449
AN - SCOPUS:85105891377
SN - 0887-8994
VL - 120
SP - 38
EP - 51
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -