Trial Review

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Trial registered on ANZCTR


Registration number
ACTRN12605000128695
Ethics application status
Approved
Date submitted
10/08/2005
Date registered
11/08/2005
Date last updated
11/08/2005
Type of registration
Retrospectively registered

Titles & IDs
Public title
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.
Scientific title
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.
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Hereditary motor sensory neuropathy of neuronal type with onset in early childhood 216 0
Condition category
Condition code
Human Genetics and Inherited Disorders 242 242 0 0
Other human genetics and inherited disorders
Neurological 243 243 0 0
Other neurological disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
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.
Intervention code [1] 158 0
None
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 288 0
A review of the neurophysiological abnormalities apparent in children and adults with this condition, including (where possible) serial assessment of neurophysiological function.
Timepoint [1] 288 0
Primary outcome [2] 289 0
A review of pathological findings in this disorder, including re-assessment of nerve and muscle biopsies on all patients.
Timepoint [2] 289 0
Secondary outcome [1] 646 0
None
Timepoint [1] 646 0

Eligibility
Key inclusion criteria
Subjects will have a diagnosis of HMSN of neuronal type with onset in early childhood, based upon their clinical findings and family history, neurophysiological assessments and, where applicable, pathological testing (nerve and muscle biopsies).
Minimum age
Not stated
Maximum age
Not stated
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
No exclusion criteria

Study design
Purpose
Natural history
Duration
Cross-sectional
Selection
Defined population
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Date of first participant enrolment
Anticipated
1/02/2004
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
20
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)

Funding & Sponsors
Funding source category [1] 302 0
Other
Name [1] 302 0
The Institute for Neuromuscular Research
Country [1] 302 0
Australia
Primary sponsor type
Hospital
Name
The Children's Hospital at Westmead
Address
Country
Australia
Secondary sponsor category [1] 234 0
None
Name [1] 234 0
None
Address [1] 234 0
Country [1] 234 0

Ethics approval
Ethics application status
Approved

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 36104 0
Address 36104 0
Country 36104 0
Phone 36104 0
Fax 36104 0
Email 36104 0
Contact person for public queries
Name 9347 0
Dr Simon Grew
Address 9347 0
Clinical Sciences
The Children's Hospital at Westmead
Locked Bag 4001
Westmead NSW 2145
Country 9347 0
Australia
Phone 9347 0
+61 2 98451443
Fax 9347 0
Email 9347 0
[email protected]
Contact person for scientific queries
Name 275 0
Sian Rudge
Address 275 0
Clinical Sciences
The Children's Hospital at Westmead
Locked Bag 4001
Westmead NSW 2145
Country 275 0
Australia
Phone 275 0
+61 2 98451229
Fax 275 0
+61 2 98451317
Email 275 0
[email protected]

No information has been provided regarding IPD availability


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

Documents added manually
No documents have been uploaded by study researchers.

Documents added automatically
No additional documents have been identified.