Mutational Analysis of Alternative Pathway Complement Regulatory Proteins

Overview

About this study

The purpose of this study is to develop and validate full gene-sequencing assays or known mutation sequencing assays for the evaluation of patients with suspected alternative pathway complement defects.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

All patients who meet the diagnostic criteria for:
- Atypical hemolytic syndrome
- DEAP-HUS
- Thrombotic microangiopathy (TTP)
- Proliferative glomerulonephritis (PGN)
- HELLP syndrome
Patients who have atypical features for the above diseases or have abnormalities in the initial tests for complement will also be recruited

Exclusion Criteria:

Infants below 6 months of age
Subjects unable to provide a research blood sample for any medical reason.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location	Status
Rochester, Minn. Mayo Clinic principal investigator Maria Alice Willrich, Ph.D.	Closed for enrollment

Mayo Clinic Location

Status

Rochester, Minn.

Mayo Clinic principal investigator

Maria Alice Willrich, Ph.D.

Closed for enrollment

More information

Publications

Publications are currently not available

Clinical Trials