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Newborn screening for homocystinuria
John H Walter1, Nikki Jahnke, Tracey Remmington
1Willink Biochemical Genetics Unit, Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester, UK, M13 9WL.
Insights
Newborn screening for homocystinuria (a rare inherited disorder) lacks robust evidence from controlled trials. Uncontrolled studies suggest benefits, but more research is needed to confirm efficacy and cost-effectiveness.
Area of Science:
- Medical Genetics
- Newborn Screening
- Metabolic Disorders
Background:
- Homocystinuria is a rare inherited metabolic disorder caused by cystathionine beta-synthase deficiency.
- While infants appear normal at birth, severe complications arise in childhood if untreated.
- Early diagnosis and intervention are crucial for preventing or mitigating these complications.
Purpose of the Study:
- To evaluate the clinical benefits of newborn population screening for homocystinuria.
- To compare outcomes of early diagnosis via screening versus later clinical diagnosis.
Main Methods:
- Systematic review of randomized controlled trials (RCTs) and controlled clinical trials.
- Searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.
- Included studies assessed neonatal screening for homocystinuria versus non-screened populations.
Main Results:
- No eligible randomized controlled trials or controlled clinical trials were identified for inclusion.
- The review could not identify any studies meeting the inclusion criteria.
Conclusions:
- Currently, there is insufficient evidence from controlled studies to confirm the clinical benefit of newborn screening for homocystinuria.
- Uncontrolled case series suggest that newborn screening and early treatment are effective.
- Future multicenter, long-term RCTs are necessary to establish robust evidence and conduct cost-effectiveness analyses.
Background:
Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications.
Objectives:
To determine if newborn population screening for the diagnosis of homocystinuria due to cystathionine beta synthase deficiency leads to clinical benefit compared to later clinical diagnosis.
Search Methods:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.Date of the most recent search of the Inborn Errors of Metabolism Register: 15 May 2013.
Selection Criteria:
Randomised controlled trials and controlled clinical trials assessing the use of any neonatal screening test to diagnose infants with homocystinuria before the condition becomes clinically evident. Eligible studies compare a screened population versus a non-screened population.
Data Collection And Analysis:
No studies were identified for inclusion in the review.
Main Results:
No studies were identified for inclusion in the review.
Authors' Conclusions:
We were unable to identify eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on controlled studies; however, we are aware of uncontrolled case-series which support the efficacy of newborn screening for homocystinuria and its early treatment. Any future randomised controlled trial would need to be both multicentre and long term in order to provide robust evidence for or against screening and to allow a cost effectiveness analysis to be undertaken.
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