Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases

Abstract

The development of personalised medicine is of considerable importance for paediatric patient populations, and represents a move away from the use of treatment dosages based on experience with the same compounds in adults. Currently, however, we know little about developmental pharmacogenomics and, although many biomarkers are available for clinical research use, there have been few applications in the management of paediatric diseases. This paper reviews where we are in the journey towards achieving paediatric personalised medicine and describes a group of diseases requiring such an approach. The personalised medicine approach is particularly relevant for the treatment of rare childhood diseases, and the group of life-threatening neurological disorders known as lysosomal storage diseases represents a potential study population. The genetic bases of these disorders are generally well defined, there is the potential for diagnosis at birth or prenatally, and there are a range of therapeutic options available or under development.

Uses of Personalised Medicine in Current Pediatrics

“…HLA-B*1502 for example has been linked to severe adverse drug reaction with carbamazepine. Use of carbamazepine in patients who test positive to this biomarker may lead to severe skin necrolysis and Steven-Johnson syndrome [6,7]. HLA-B 5701 similarly has been linked to hypersensitivity reaction to abacavir, an HIV drug [6,8,9].…”

“…Use of carbamazepine in patients who test positive to this biomarker may lead to severe skin necrolysis and Steven-Johnson syndrome [6,7]. HLA-B 5701 similarly has been linked to hypersensitivity reaction to abacavir, an HIV drug [6,8,9]. In these examples, screening for theses HLA types will avoid giving the relevant drug to those patients who are at risk of developing adverse reaction and also gaining time on starting the right treatment at the right time.…”

“…In these examples, screening for theses HLA types will avoid giving the relevant drug to those patients who are at risk of developing adverse reaction and also gaining time on starting the right treatment at the right time. According to Scarpa et al, "In future, it is expected that such biomarkers will be detected more readily thanks to the new high-throughput technologies and powerful analytical approaches employed within the fields of pharmacogenomics, proteomics, metabolomics and other so-called "omics" [6]. Adverse reaction to medications (ADRs) accounts for 5% of all hospital admissions.…”

“…Lysosomal storage disorders (LSDs) are a group of around 40 disorders that affect one in 5,000 babies [27]. LSDs are rare but serious neuro-developmental diseases with well-known genetics bases with fairly understood enzyme deficiencies [6]. There is a possibility of early diagnosis and potential early treatment.…”

“…Some scientists believe that understanding and treating neurodegenerative diseases in children could lead to future development of treatment or control of some neurodegenerative disorders in adults, Alzehimer for example. Scarpa et al [6] suggested that LSD could be a good…”