In:
Monatsschrift Kinderheilkunde, Springer Science and Business Media LLC, Vol. 169, No. 8 ( 2021-08), p. 738-747
Abstract:
The autosomal recessive defect of aromatic L‑amino acid decarboxylase (AADC) causes a severe combined deficiency of dopamine, serotonin and catecholamines. The clinical picture is characterized by truncal hypotonia, delayed or absent achievement of motor milestones, and oculogyric crises from infancy onwards. The response to conventional drug treatment is very limited, especially in severe cases. The intracerebral application of eladocagene exuparvovec, an AAV2-based gene therapy, which is expected to be approved in mid-2021, is the first available causal therapeutic approach. Aim In collaboration with the German Society of Neuropediatrics (GNP), the Working Group of Pediatric Metabolic Disorders (APS), the German Society of Neurosurgery (DGNC) and the German Society of Pediatrics and Adolescent Medicine (DGKJ), the structural requirements and practical aspects in the preparation, implementation and follow-up of the treatment with eladocagene exuparvovec were elaborated. Discussion The present statement compiles the necessary framework conditions for a quality-assured administration of eladocagene exuparvovec. The treatment requires prehospital, inpatient and posthospital care by a multiprofessional team in a specialized and qualified treatment center. Patient follow-up is intended to contribute to knowledge-generating care. Due to lack of data on the therapeutic (long-term) effect as well as on advantages and disadvantages of the different stereotactic approaches, a structured follow-up plan and documentation in an appropriate, industry-independent registry are necessary.
Type of Medium:
Online Resource
ISSN:
0026-9298
,
1433-0474
DOI:
10.1007/s00112-021-01232-7
Language:
German
Publisher:
Springer Science and Business Media LLC
Publication Date:
2021
detail.hit.zdb_id:
1462918-5
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