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NGS-Panel Diagnosis developed for the differential diagnosis of idiopathic toe walking and its application for the investigation of possible genetic causes for the gait anomaly

NGS-Panel Diagnosis developed for the differential diagnosis of idiopathic toe walking and its application for the investigation of possible genetic causes for the gait anomaly

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00028878
Enrollment
100
Registered
2023-02-06
Start date
2022-11-15
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

Muscular contracted pointed toe/toe walking gait

Interventions

Group 1: Retrospective analysis of all patients from the Practice's for gait anomalies database who have been diagnosed with "idiopathic toe walking" on examination by the referring specialist and who

Sponsors

Pomarino. Praxis für Ganganomalien
Lead Sponsor

Eligibility

Sex/Gender
All
Age
3 Years to No maximum

Inclusion criteria

Inclusion criteria: Toe walking at least 50% of the time, participation in a NGS-test of 49 genes, written consent

Exclusion criteria

Exclusion criteria: Underlying acquired or congenital pathologies (e.g. cerebral palsy, tethered cord syndromes), complications before, during or immediately after birth, in the case of changes in the monosynaptic reflexes, a pronounced muscle weakness of the triceps surae muscle or asymmetry as an indication of an underlying neurological disease and subsequent positive diagnosis in the specialist field of neurology or neuropaediatrics, as well as in the case of severe orthopaedic malformations.

Design outcomes

Primary

MeasureTime frame
The aim of the study is to find out if: 1. there are patients who have been diagnosed as "idiopathic toe walkers" but show pathogenic variants in an NGS-Panel examination to exclude neuropathies/myopathies; 2. there are gene variants of unclear significance that occur disproportionately often in toe walkers.

Secondary

MeasureTime frame
Secondary endpoints are the detection of possible areas for more complex future research into the possible significance of future research projects and to postulate an improved diagnostic process for the possible causes of toe walking in children with no clear indication for an underlying neurological or orthopedic cause.

Countries

Germany

Contacts

Public ContactAndreas Brunner

Pomarino. Praxis für Ganganomalien

praxis@pomarino.de+49 40 51 32 08 82

Outcome results

None listed

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