Status:
UNKNOWN
Prevalence of Constitutional Mismatch-repair Deficiency Among Suspected Neurofibromatosis Type 1/Legius Syndrome Children Without a Malignancy and Without a NF1 or SPRED1 Mutation
Lead Sponsor:
Medical University Innsbruck
Conditions:
Neurofibromatosis Type 1
Eligibility:
All Genders
Up to 16 years
Brief Summary
Frequency of constitutional mismatch-repair deficiency among suspected neurofibromatosis type 1 patients without a NF1 mutation Constitutional mismatch repair deficiency (CMMRD) is a rare inherited co...
Eligibility Criteria
Inclusion
- Since CALM or CALM-like pigmentation alterations are the most prevalent NF1 sign in CMMRD patients, at least two should be present in the patient. Therefore, we will include any suspected de novo (=non-familial = NF1 signs absent in parents) NF1 patient who falls into one of three clinical groups:
- \>5 CALM with or without skinfold freckling and no other NIH NF1 criterion,
- \>5 CALM with or without skinfold freckling and one or more other NIH NF1 criteria,
- 2-5 CALM and one or more NIH NF1 criteria other than CALM.
- The patient's age must be below 17 years, since the vast majority of CMMRD cases will have developed a tumor by this age. However, overall we aim that the large majority of patients is below the age of 10 years which is the mean age of tumor onset in CMMRD patients.
- A causative NF1 or SPRED1 mutation must be largely excluded by mutation analysis protocols that reach highest mutation detection rates in bona fide NF1 patients (i.e. familial cases who fulfill NIH criteria)\* and sufficient amounts of gDNA and cDNA must be available for subsequent massive-parallel sequencing-based mutation analysis which potentially needs to be complemented with RNA-based techniques (cDNA) particularly for the notoriously difficult PMS2 gene.
Exclusion
- \-
Key Trial Info
Start Date :
January 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2021
Estimated Enrollment :
670 Patients enrolled
Trial Details
Trial ID
NCT03757247
Start Date
January 1 2019
End Date
January 1 2021
Last Update
November 28 2018
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