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Pedigree research in families with Common Variable Immunodeficiency Disease.

Pedigree research in families with Common Variable Immunodeficiency Disease. - CVID families

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
NL-OMON
Registry ID
NL-OMON30598
Enrollment
20
Registered
2007-11-06
Start date
2006-10-01
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

common variable immunodeficiency disease late onset hypogammaglobulinemia

Interventions

None listed

Sponsors

Jeroen Bosch Ziekenhuis
Lead Sponsor

Eligibility

Age
2 Years to 99 Years

Inclusion criteria

Inclusion criteria: *patients with CVID treated at the department of pediatrics of the Jeroen Bosch Hospital. *genetic interesting relatives of the CVID patients, based on the family history and pedigree. *relatives with suspicion of immunodeficiency based on clinical records.

Exclusion criteria

Exclusion criteria: Illness or recent infection (

Design outcomes

Primary

MeasureTime frame
1. With the help of department of clinical genetics: to make a pedigree of the two families with CVID to see if they are related to each other. Are there enough clues for genetic testing? 2. To determine immunologic parameters in CVID-patients and family members with recurrent infections or other symptoms of CVID.

Secondary

MeasureTime frame
1. If there are enough clues for a genetic background of CVID in a family: genetic testing of known CVID-genes. 2. If a genetic mutation is found: is there a correlation between immunologic parameters and the found mutation?

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)