Toe Walking as a Primary Clinical Indicator of PMP22 Mutation-Associated Neuropathies in Children

Toe Walking as a Primary Clinical Indicator of PMP22 Mutation-Associated Neuropathies in Children - TW-PMP22 Study

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00031141

Enrollment

Registered

2025-07-17

Start date

2025-05-01

Completion date

Unknown

Last updated

2025-10-06

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

Conditions

Q66.8

Interventions

Group 1: Observational study (retrospective) This retrospective observational study investigates the association between PMP22 gene mutations and idiopathic toe walking (ITW) in children. Using next-g

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Toe walking for more than half of the day Completion of a specific genetic test using a panel of 49 genes

Exclusion criteria

Exclusion criteria: absence of neurological/orthopedic conditions, such as cerebral palsy, autism spectrum disorder, tethered cord syndrome, children with birth complications, severe orthopedic deformities including limb length discrepancies, scoliosis or severe foot deformities.

Design outcomes

Primary

Measure	Time frame
-Identification of PMP22 mutations in children with persistent toe walking. -Measured by: Frequency of Pathogenic (P), likely pathogenic (LP), and variants of uncertain significance (VUS) in PMP22 gene using NGS panel testing. -Results: 56.52% P, 26.08% LP, 17.39% VUS variants detected.	—

Secondary

Measure	Time frame
1.Clinical characteristics associated with PMP22 mutations: -Prevalence of pes cavus (found in 92% of patients) -Prevalence of lumbar hyperlordosis (92%) -Ankle joint mobility restrictions (54.2% restricted mobility) 2. Neurological Manifestations: -Presence of tremor (70.8%) -Speech/language difficulties (50%) -Balance disorders (45.8%) 3. Inheritance patterns: -Autosomal recessive (95.8%) vs. autosomal dominant (4.2%) -Heterozygous (92%) vs. homozygous (8%) variants -Family history of neuropathies (45.8% of cases) 4. Developmental features: -Age of toe walking onset (mean 18 months) -Persistennce beyond age 2 years (83.3%) -Toilet training achievement (62.5%) Notes : -All outcomes were assessed retrospectively through genetic testing and clinical examination. -No intervention was performed to modify outcomes. -The study design was observational without control group comparison. -Outcomes focus on establishing association rather than causation.	—

Measure

Time frame

1.Clinical characteristics associated with PMP22 mutations: -Prevalence of pes cavus (found in 92% of patients) -Prevalence of lumbar hyperlordosis (92%) -Ankle joint mobility restrictions (54.2% restricted mobility) 2. Neurological Manifestations: -Presence of tremor (70.8%) -Speech/language difficulties (50%) -Balance disorders (45.8%) 3. Inheritance patterns: -Autosomal recessive (95.8%) vs. autosomal dominant (4.2%) -Heterozygous (92%) vs. homozygous (8%) variants -Family history of neuropathies (45.8% of cases) 4. Developmental features: -Age of toe walking onset (mean 18 months) -Persistennce beyond age 2 years (83.3%) -Toilet training achievement (62.5%) Notes : -All outcomes were assessed retrospectively through genetic testing and clinical examination. -No intervention was performed to modify outcomes. -The study design was observational without control group comparison. -Outcomes focus on establishing association rather than causation.

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Countries

Germany

Contacts

Public ContactDavid Pomarino

Pomarino. Praxis für Ganganomalien

info@ptz-pomarino.de+49 40 51 32 08 80

Outcome results

None listed

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