Early Detection of Primary Antibody Deficiencies in Primary Care Facilities by an Algorithm Driven Selection of Serologic Testing in Individuals at Risk.

NCT05310604 | Completed

• 1 other identifier: NL74944.041.20
• Study Type: observational
• Target: 104
• Locations: 1 country
• Sites: 1

Brief Summary

Rationale: Primary antibody deficiencies (PAD) encompass a group of rare heterogeneous diseases. The clinical presentation may vary widely, including infectious and autoimmune symptoms and increased risk of malignancy. Due to the rarity of the diseases and this wide array of symptoms there is often a delay in diagnosis, of up to 12 years on average1-4. Timely diagnosis of PAD reduces morbidity, mortality and health care costs as effective therapies are available. The currently available screening systems for the broader group of primary immunodeficiencies (PID) have been shown to have poor diagnostic performance5-10 and are time consuming. We have thus developed an algorithm to screen patient records in a primary care setting for risk factors specifically for PAD. Patients with a high risk may undergo a laboratory assessment and referral if necessary, thus reducing the diagnostic delay of PAD. The aim of the current study is to validate this algorithm. Objective: Main objective: to validate a screening algorithm for PAD in a primary care setting in the Netherlands. Study design: Mono-centre cohort study based on regular care data Study population: Primary care patients aged 12-70 years with the 100 highest scores based on our algorithm.

Conditions

Primary Antibody Deficiencies

Outcome Measures

Primary Outcomes (1)

• The percentage of high-risk patients with an eventual PAD diagnosis

  measurement december 2022

Interventions

Blood withdrawal PROCEDURE

Single blood withdrawal for determination of immunoglobulin levels

Eligibility Criteria

• Age: 12 Years - 70 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary care patients aged 12-70 years with the 100 highest scores based on our algorithm.

You may qualify if:

• Age between 12 and 70 years
• A total algorithm score that is within the highest 0.66% of the algorithm scores within a single general practitioner's clinic
• Signed informed consent

You may not qualify if:

• Secondary causes of immunodeficiency as registered by ICPC codes for: multiple myeloma, HIV-infection, anorexia nervosa, bulimia, cystic fibrosis.
• The presence of one of the following during manual screening of the health care record: nephrotic syndrome, current systemic chemotherapy and stage 3-4 liver cirrhosis will be excluded. This could not be done by the algorithm as there is no ICPC code available.

Sponsors & Collaborators

• UMC Utrecht: lead

Study Sites (1)

University Medical Center Utrecht

Utrecht, Netherlands

Location

Related Publications (2)

• Messelink MA, Welsing PMJ, Devercelli G, Marsden JWN, Leavis HL. Clinical Validation of a Primary Antibody Deficiency Screening Algorithm for Primary Care. J Clin Immunol. 2023 Nov;43(8):2022-2032. doi: 10.1007/s10875-023-01575-8. Epub 2023 Sep 16.

  PMID: 37715890 DERIVED

• Messelink MA, Berbers RM, van Montfrans JM, Ellerbroek PM, Gladiator A, Welsing PMJ, Leavis H. Development of a primary care screening algorithm for the early detection of patients at risk of primary antibody deficiency. Allergy Asthma Clin Immunol. 2023 May 27;19(1):44. doi: 10.1186/s13223-023-00790-7.

  PMID: 37245042 DERIVED

MeSH Terms

Conditions

Primary Immunodeficiency Diseases

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immunologic Deficiency Syndromes; Immune System Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator, Clinical Immunologist (MD, PhD)

Study Record Dates

• First Submitted: March 25, 2022
• First Posted: April 5, 2022
• Study Start: May 24, 2022
• Primary Completion: February 20, 2023
• Study Completion: February 20, 2023
• Last Updated: February 21, 2023

Record last verified: 2023-02

Locations

NL (1)