Long-term outcome of patients with inherited metabolic diseases after diagnosis by expanded newborn screening

Long-term outcome of patients with inherited metabolic diseases after diagnosis by expanded newborn screening - NGS2020/ NGS2025

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00013329

Enrollment

800

Registered

2018-01-12

Start date

2005-06-20

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Maple syrup urine disease (MSUD), Glutaric aciduria type I (GA1), Isovaleric aciduria (IVA), Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), Long-chain acyl-CoA dehydrogenase deficiency (VLCADD), Long-chain hydroxy-acyl-CoA dehydrogenase deficiency (LCHADD), Carnitine palmitoyltransferase I deficiency (CPT I), Carnitine palmitoyltransferase II deficiency (CPT II), Carnitine translocase deficiency (CACT), Phenylketonuria (PKU), Biotinidase deficiency, Tyrosinaemia type I, Classical homocy

Interventions

Group 1: Observational study of children and adolescents with an inherited metabolic disease, detected by newborn screening and subsequently confirmed by further analysis. Following the study protoco

Eligibility

Sex/Gender

All

Age

No minimum to 18 Years

Inclusion criteria

Inclusion criteria: All patients, since 1999, in which an inherited metabolic disease was suspected by newborn screening in Heidelberg and subsequently confirmed by further analysis. Additionally, patients identified by another German newborn screening center may be included (Start 01.03.2016) if the relevant data about newborn screening and confirmation diagnosis is available. Furthermore, patients not detected by newborn screening (false negative) may be included.

Exclusion criteria

Exclusion criteria: No informed consent except for deceased patients.

Design outcomes

Primary

Measure	Time frame
Does newborn screening lead to treatment in the presymptomatic phase? Following the study protocol the following data are recorded: basic data inclusive newborn screening, socio economic data (patient and familiy), data on treatment, data on clinical and cognitive outcome, data on mortality and comorbidities. Therefore, already existing patient data (screening examination data, medical records) are assessed and, furthermore, prospective data collection is done while regular patients visits.	—

Measure

Time frame

Does newborn screening lead to treatment in the presymptomatic phase? Following the study protocol the following data are recorded: basic data inclusive newborn screening, socio economic data (patient and familiy), data on treatment, data on clinical and cognitive outcome, data on mortality and comorbidities. Therefore, already existing patient data (screening examination data, medical records) are assessed and, furthermore, prospective data collection is done while regular patients visits.

—

Secondary

Measure	Time frame
Does a presymptomatic start of therapy prevent (completely or partly) the development of metabolic crises and/or the development of clinical symptoms?	—

Countries

Germany

Contacts

Public ContactUlrike Mütze

Universitätsklinikum Heidelberg. Zentrum für Kinder- und Jugendmedizin. Sektion für Neuropädiatrie Stoffwechselmedizin. Dietmar-Hopp-Stoffwechselzentrum

Urike.Muetze@med.uni-heidelberg.de06221-56-36971 (Sekretariat)

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026