Natural history and influencing factors of genetic developmental disorders and epilepsies

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00040675

Enrollment

200

Registered

2026-06-18

Start date

2026-07-01

Completion date

Unknown

Last updated

2026-06-22

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

Conditions

Epileptic Encephalopathies, Neurodevelopmental disorders

Interventions

Group 1: Individuals with a presumed genetic epilepsy or developemtal delay

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Suspected genetic epilepsy and/or neurodevelopmental disorder??????

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

Measure	Time frame
Data on the following parameters are to be collected from the medical records of routine diagnostics and treatment, with the primary objective of characterizing the natural history of genetic neurodevelopmental disorders and epilepsy (age-associated HPO symptoms, progression of disease severity): General information (sex, age at symptom onset, age at time of diagnosis, anthropometric measurements at birth and at the current time); Family history of neurological and psychiatric disorders; Genetic diagnostics (methodology, genetic test results, age at time of genetic findings); Symptoms (coded according to the Human Phenotype Ontology, HPO); Magnetic resonance imaging (MRI) of the brain; Epilepsy (electroencephalography (EEG) findings, seizure types, seizure frequency); Development (early childhood developmental milestones, developmental delay, motor development); Behavior and communication (repetitive behavioral patterns, social behavior, aggressive behaviors, modes of communication); Nutrition (feeding difficulties, level of independent feeding, gastric tube dependency); Sleep (sleep disturbances, circadian rhythm); Associated conditions (e.g., infectious disease / gastroenterological / pulmonological / orthopedic / neurological / cardiological); Therapies (pharmacological therapies, non-pharmacological therapies); Other notable findings	—

Measure

Time frame

Data on the following parameters are to be collected from the medical records of routine diagnostics and treatment, with the primary objective of characterizing the natural history of genetic neurodevelopmental disorders and epilepsy (age-associated HPO symptoms, progression of disease severity): General information (sex, age at symptom onset, age at time of diagnosis, anthropometric measurements at birth and at the current time); Family history of neurological and psychiatric disorders; Genetic diagnostics (methodology, genetic test results, age at time of genetic findings); Symptoms (coded according to the Human Phenotype Ontology, HPO); Magnetic resonance imaging (MRI) of the brain; Epilepsy (electroencephalography (EEG) findings, seizure types, seizure frequency); Development (early childhood developmental milestones, developmental delay, motor development); Behavior and communication (repetitive behavioral patterns, social behavior, aggressive behaviors, modes of communication); Nutrition (feeding difficulties, level of independent feeding, gastric tube dependency); Sleep (sleep disturbances, circadian rhythm); Associated conditions (e.g., infectious disease / gastroenterological / pulmonological / orthopedic / neurological / cardiological); Therapies (pharmacological therapies, non-pharmacological therapies); Other notable findings

—

Secondary

Measure	Time frame
The data points outlined above are intended to facilitate the assessment of symptom burden and disease severity as well as their changes over time; the determination of diagnostic delay (defined as the interval between the onset of initial symptoms and the establishment of a molecular genetic diagnosis); the evaluation of the quality of care and therapeutic management within the context of routine clinical care; the investigation of genotype–phenotype correlations; and the conduct of survival analyses.	—

Measure

Time frame

The data points outlined above are intended to facilitate the assessment of symptom burden and disease severity as well as their changes over time; the determination of diagnostic delay (defined as the interval between the onset of initial symptoms and the establishment of a molecular genetic diagnosis); the evaluation of the quality of care and therapeutic management within the context of routine clinical care; the investigation of genotype–phenotype correlations; and the conduct of survival analyses.

—

Countries

Germany

Contacts

Public ContactSteffen Syrbr

Universitätsklinikum Heidelbetrg

steffen.syrbe@med.uni-heidelberg.de+49 6221 56 32710

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Jun 29, 2026