Multicenter Phenotype-Genotype Analysis of Vascular Anomalies and Related Syndromes
Anita Haggstrom, MD
Primary Investigator
Brief description of study
THIS STUDY IS ENROLLING BY INVITATION ONLY - This will be a multi-institutional study and subjects with vascular anomalies or discrepancy of growth will be enrolled from Hemangioma Investigator Group Study (HIG) sites and other sites in the Pediatric Dermatology Research Alliance (PeDRA). Decisions regarding participation will in no way affect subjects’ medical care. Potential subjects may be recruited through clinic visits, referrals from outside physicians, or family conferences. Potential subjects may also be identified through a review of the investigators clinical schedules and/or patient medical records. Both new and established patients will be recruited to participate.
Detailed description of study
At the time of enrollment or at a subsequent visit, but only once during participation
in the study, subjects can agree to provide any of the following non-medically necessary samples
for genetic studies. Collection of any of these samples is optional.
Blood sample: 4 ml of blood drawn through venipuncture into an EDTA containing test tube
(purple top)
Buccal swab sample: subjects will have cheek cells collected via buccal swabs.
Salvia sample: subjects will be asked to spit into a tube.
Affected skin punch biopsy: One to two 3-4 mm punch biopsies will be obtained from the
affected areas of skin for DNA and RNA extraction, and in some cases, tissue culture.
Biopsies sites may be closed with suture if clinically appropriate. Due to the small size of the
sample and the sample site (skin) this is considered a less than minimal risk procedure.
Normal skin punch biopsy: One to two 3-4mm punch biopsies will be obtained from normal
skin for DNA and RNA extraction, and in some cases tissue culture.
Surgical tissue specimens: If an individual is having surgical excision of affected tissue, then
a small tissue sample may be collected for DNA extraction, and in some cases, tissue culture.
Protocol Version 03FEB2020 Multicenter Phenotype-Genotype Analysis of Vascular
Anomalies and Related Syndromes
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Paraffin-embedded tissue samples: If patients have had previous surgeries, tissue from the
Paraffin-embedded tissue blocks may be collected for DNA and RNA extraction.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Vascular Anomaly
-
Age: 100 years or below
-
Gender: All
- Individual of any age from infant to adult
- Diagnosed with a vascular anomaly or discrepancy of growth
- Withdrawal of consent
- Documentation of dissent after enrollment
- Refusal to re-consent after turning 18 years old
