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Clinical Trials/TCTR20220706007
TCTR20220706007
Recruiting
N/A

Association between cutaneous manifestations and mutation gene by whole exome sequencing technique among neurofibromatosis type 1 patients

Health Systems Research Institute0 sites40 target enrollmentJuly 6, 2022
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Overview

Phase
N/A
Intervention
Not specified
Conditions
Not specified
Sponsor
Health Systems Research Institute
Enrollment
40
Status
Recruiting
Last Updated
last year
OverviewInvestigatorsEligibility CriteriaOutcomesSimilar Trials

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
July 6, 2022
End Date
August 31, 2022
Last Updated
last year
Study Type
Observational
Sex
All

Investigators

Eligibility Criteria

Inclusion Criteria

  • •Clinical diagnosis based on presence of two of the following:
  • •\-Six or more cafe\-au\-lait macules over 5 mm in diameter in prepubertal individuals and over 15mm in greatest diameter in postpubertal individuals.
  • •\-Two or more neurofibromas of any type or one plexiform neurofibroma.
  • •Two or more Lisch nodules (iris hamartomas).
  • •\-Freckling in the axillary or inguinal regions.
  • •\-Optic glioma.
  • •\-A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis.
  • •\-First\-degree relative (parent, sibling, or offspring) with NF1 by the above criteria

Exclusion Criteria

  • •1\. Mosaic NF1 (localized NF1\)
  • •2\. involuntary participants

Outcomes

Primary Outcomes

Not specified

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