The value of nerve ultrasound in patients with neurofibromatosis type 1

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON20697

Enrollment

Registered

2019-09-12

Start date

2019-07-11

Completion date

Unknown

Last updated

2024-02-28

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

Conditions

Neurofibromotosis type 1

Interventions

None listed

Eligibility

Inclusion criteria

Inclusion criteria: - Age =18 years - Diagnosed with NF1 (see below for diagnostic criteria) - Treatment at the outpatient clinic of the Erasmus MC Cancer Institute (Rotterdam) Criteria for diagnosis NF1: Two or more of the following clinical features are sufficient to establish a diagnosis of neu-rofibromatosis type 1: • Six or more cafe-au-lait macules (>0,5 cm at largest diameter in a prepubertal child or >1,5 cm in post-pubertal individuals) • Axillary freckling or freckling in inguinal regions • Two or more neurofibromas of any type or one or more plexiform neurofibromas • Two or more Lisch nodules (iris hamartomas) • A distinctive osseous lesion (sphenoid wing dysplasia, long-bone dysplasia) • An optic pathway glioma • A first-degree relative with neurofibromatosis type 1 diagnosed by the above criteria

Exclusion criteria

Exclusion criteria: - comorbidity associated with (poly)neuropathy (e.g. alcoholism, diabetes mellitus) - comorbidity mimicking neuropathic complaints (e.g. myelopathy) - inability to give informed consent or to undergo HRUS

Design outcomes

Primary

Measure	Time frame
- HRUS nerve abnormalities and their characteristics (cross-sectional area, presence or absence of vascularization), measured in 6 nerves and the brachial plexus bilaterally; - presence or absence neurological deficits. This will be determined with neurological examination (strength of 9 muscle groups bilaterally, sensibility in 5 nerve areas bilaterally, 5 reflexes bilaterally, and questions concerning presence or absence of pain), nerve conduction studies (nerve conduction velocity, distal latency, amplitude of action potential, F-wave latency, H-reflex latency) and on indication electromyography (presence of activity in resting condition, amplitude, duration and number of phases of motor unit potentials, pattern at maximal voluntary activation).	—

Measure

Time frame

- HRUS nerve abnormalities and their characteristics (cross-sectional area, presence or absence of vascularization), measured in 6 nerves and the brachial plexus bilaterally; - presence or absence neurological deficits. This will be determined with neurological examination (strength of 9 muscle groups bilaterally, sensibility in 5 nerve areas bilaterally, 5 reflexes bilaterally, and questions concerning presence or absence of pain), nerve conduction studies (nerve conduction velocity, distal latency, amplitude of action potential, F-wave latency, H-reflex latency) and on indication electromyography (presence of activity in resting condition, amplitude, duration and number of phases of motor unit potentials, pattern at maximal voluntary activation).

—

Secondary

Measure	Time frame
- the number of newly detected nerve abnormalities with HRUS after two years of follow-up; - the increase in CSA and/or vascularization of nerve abnormalities detected with HRUS after two years of follow-up.	—

Contacts

Public ContactTessa Ennik

Erasmus MC

t.ennik@erasmusmc.nl+31107030875

Outcome results