Screening Study to Identify Patients With Complement Factor I Deficiencies

This is screening study to identify patients with Complement Factor I deficiencies. The primary objective is to identify participants with CFI deficiencies and assess the prevalence in the screened population.

Study Overview

• Status: Terminated
• Conditions: Previous Diagnosis With a Complement-mediated Disease and/or With Clinical Manifestations Reasonably Associated With Complement Factor I Deficiency

• Study Type: Observational
• Enrollment (Actual): 113

Contacts and Locations

Study Locations

• United States
  • Alabama
    • Huntsville, Alabama, United States, 35805
      • Nephrology Consultants, LLC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 months and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients previously diagnosed with a complement-mediated disease and/or with clinical manifestations in which a reasonable etiological association with Complement Factor I (CFI) deficiency has been reported.

Examples of these diseases and conditions are (but not limited to): atypical hemolytic uremic syndrome, Complement 3 Glomerulopathy, membranoproliferative glomerulonephritis, systemic lupus erythematosus, leukocytoclastic vasculitis, recurrent bacterial infections, unexplained inflammation or edema, and some autoimmune disorders.

Description

Inclusion Criteria:

An individual must meet all the following criteria to be eligible to participate in this study:

1. A male or female ≥6 months of age who has been diagnosed with a complement-mediated disease in which a reasonable etiological association with CFI deficiency has been reported
2. Affirmation of participant's informed consent or LAR's willingness to provide informed consent with signature confirmation before any study-related activities. (Study-related activities are any procedures that would not have been performed during normal clinical management of the participant.) The participant (if a minor) must be willing to give written informed assent if the minor is within the age groups 7 to 11 years old and 12 to 17 years old.

Exclusion Criteria:

1) Diagnosis of age-related macular degeneration that is complement-related with no concurrent systemic complement involvement

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Complement Factor I Deficiency Identification	Identification of participants with a CFI deficiency and percentage of those with a CFI deficiency versus total number of screened participants	At Screening

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Demographics, Disease Characteristics, Medication Use	Demographics, disease characteristics (including disease history), and disease-related medication use. Complement levels and mutation data will also be collected from medical records, if previously assessed and available.	At Screening

Collaborators and Investigators

• Sponsor: Catalyst Biosciences

Study record dates

Study Major Dates

• Study Start (ACTUAL): July 21, 2021
• Primary Completion (ACTUAL): November 23, 2021
• Study Completion (ACTUAL): November 23, 2021

Study Registration Dates

• First Submitted: September 29, 2021
• First Submitted That Met QC Criteria: September 29, 2021
• First Posted (ACTUAL): October 11, 2021

Study Record Updates

• Last Update Posted (ACTUAL): April 8, 2022
• Last Update Submitted That Met QC Criteria: March 31, 2022
• Last Verified: March 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Blood Coagulation Disorders, Inherited; Coagulation Protein Disorders; Hemorrhagic Disorders; Blood Coagulation Disorders; Genetic Diseases, Inborn; Afibrinogenemia
• Other Study ID Numbers: CFI-001

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No