Modifiers in PMP22 related neuropathies

Modifiers in PMP22 related neuropathies - Modifiers in PMP22 related neuropathies

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON32269

Enrollment

1080

Registered

2008-10-21

Start date

2009-08-24

Completion date

Unknown

Last updated

2024-05-13

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

Conditions

Charcot-Marie-Tooth disease Hereditary Motor and Sensory Neuropathy

Interventions

None listed

Eligibility

Age

12 Years to 99 Years

Inclusion criteria

Inclusion criteria: duplication or deletion of PMP22-gene, age 12-60 year

Exclusion criteria

Exclusion criteria: - Use of medication or suffering from other disease than CMT/HNPP that can cause neuropathy - comorbidity interfering with mobility - non-Caucasian patients

Design outcomes

Primary

Measure	Time frame
The presence or absence of copy number variants (CNV) and sequence variants of CMT genes and genes involved in the immune system between the most severely and mildest affected patients.	—

Countries

Netherlands

Outcome results