Description of L-Serine Supplementation in Monogenic Neurodevelopmental Disorders

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00040938

Enrollment

Registered

2026-07-10

Start date

2026-07-10

Completion date

Unknown

Last updated

2026-08-03

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

Conditions

Monogenic developmental disorders 329284 599373 289266

Interventions

Group 1: The study contains a retrospective collection of data (genetics, phenotype, development, EEG, individual treatment attempts with L-serine or related substances and other therapies) from routi

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: (Likely) pathogenic variant in a gene associated with developmental disorders; supplementation of L-serine or related compounds as part of routine clinical care

Exclusion criteria

Exclusion criteria: None, if the inclusion criteria are applicable

Design outcomes

Primary

Measure	Time frame
Description of dietary supplementation with L-serine or related compounds (dosage, duration, treatment costs); description of the patients (age, sex, phenotype, and previous treatments).	—

Secondary

Measure	Time frame
Description of seizure frequency and epileptiform activity on EEG; description of developmental outcomes; description of the safety profile	—

Countries

Germany

Contacts

Public ContactSteffen Syrbe

Universitätsklinikum Heidelberg

steffen.syrbe@med.uni-heidelberg.de+ 49 621 5638371

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Aug 10, 2026