RecruitingACTRN12605000128695

Improved characterisation of the clinical phenotype of Hereditary Motor Sensory Neuropathy of neuronal type with onset of symptoms in early childhood, especially with respect to disease progression with age and the incidence of such complications as foot deformity, contractures, scoliosis and respiratory involvement - an observational study.


Sponsor

The Children's Hospital at Westmead

Enrollment

20 participants

Start Date

Feb 1, 2004

Study Type

Observational

Conditions


Eligibility

Sex: Both males and females

Plain Language Summary

Simplified for easier understanding

This observational study looks at a group of patients diagnosed with a hereditary motor and sensory nerve disease (HMSN of neuronal type) that starts in early childhood. Researchers want to track how this condition changes over time, and how often complications like foot deformity, joint tightening (contractures), scoliosis (curved spine), and breathing problems occur. You may be eligible if: - You have been diagnosed with HMSN of neuronal type that started in early childhood - Your diagnosis is supported by clinical findings, family history, nerve testing, or, where applicable, biopsy results You may NOT be eligible if: - There are no specific exclusion criteria listed for this study Talk to your doctor about whether this trial might be right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

Interested in this trial?

Get notified about updates and connect with the research team.

Interventions

This study primarily constitutes a review of a well-defined cohort of patients. The interventions planned include clinical examination and quantitative strength testing, a hip X-ray, neurophysiology t

This study primarily constitutes a review of a well-defined cohort of patients. The interventions planned include clinical examination and quantitative strength testing, a hip X-ray, neurophysiology testing, and blood sampling for genetic testing.


Locations(1)

Australia

View Full Details on ANZCTR

For the most up-to-date information, visit the official listing.

Visit

ACTRN12605000128695