Using next generation sequencing to find causative genes in patients with epidermolysis bullosa

Using next generation sequencing to find causative genes in patients with epidermolysis bullosa - NextGen4EB

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON40473

Enrollment

Registered

2014-09-10

Start date

2014-09-10

Completion date

Unknown

Last updated

2024-04-23

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

Conditions

butterfly child disease inherited blistering disease

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: -Clinically diagnosed EB or fmaily member of EB patient -Antigen mapping and/or electron microscopy of a skin biopsy confirming the diagnosis of EB. -No known mutation in one of the EB genes. -Signed Informed consent

Exclusion criteria

Exclusion criteria: Lack of informed consent

Design outcomes

Primary

Measure	Time frame
•To explore the use of exome sequencing in the diagnostic evaluation of patients with epidermolysis bullosa, without mutations in one of the known EB genes. •To identify new genes and genotypes causing epidermolysis bullosa.	—

Secondary

Measure	Time frame
•To correlate newly identified genes with their associated phenotypes. •To expand the Skin Panel list of EB genes.	—

Countries

Netherlands

Outcome results