A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome

NCT03087370 | Withdrawn

• 1 other identifier: X4-WHIM-NTHX
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

Brief Summary

This natural history study is a prospective and retrospective, observational study of WHIM patients. WHIM syndrome is a rare, genetic, primary immunodeficiency disorder (a disorder in which the body's immune system does not function properly). WHIM is an acronym for some of the symptoms of the disorder - Warts, Hypogammaglobulinemia (low levels of certain antibodies), Infections and Myelokathexis (too many white blood cells in the bone marrow).This study includes 10-year retrospective (Retrospective Phase) and up to 5-year prospective (Prospective Phase) components.

Conditions

WHIM Syndrome

Keywords

CXCR4 Mutation; Primary immunodeficiency disorder; Warts; Hypogammaglobulinemia; Infections; Myelokathexis; Human papillomavirus (HPV); Neutropenia; Herpes

Outcome Measures

Primary Outcomes (13)

• Incidence of infections

  Infections assessed by hospitalizations (including intensive care), antibiotic use, outpatient medical appointments and missed days of school/work.

  Up to five years, from time of enrollment through study completion or early termination

• Severity of infections

  Up to five years, from time of enrollment through study completion or early termination

• Incidence of warts

  Up to five years, from time of enrollment through study completion or early termination

• Severity of warts

  Warts assessed by number and size of lesions, need for surgical, systemic or topical treatment and complications.

  Up to five years, from time of enrollment through study completion or early termination

• Change in quality of life over time

  Quality of life as assessed by the quality of life instrument the 36-Item Short Form Survey (SF-36)

  Up to five years, from time of enrollment through study completion or early termination

• Change in quality of life over time

  Quality of life as assessed by the quality of life instrument the Pediatric Quality of Life Inventory (Peds-QL)

  Up to five years, from time of enrollment through study completion or early termination

• Change in quality of life over time

  Quality of life as assessed by the quality of life instrument the Life Quality Index (LQI)

  Up to five years, from time of enrollment through study completion or early termination

• Change in quality of life over time

  Quality of life as assessed by the quality of life instrument the HPV Impact Profile (HIP)

  Up to five years, from time of enrollment through study completion or early termination

• Change in medical resource utilization

  Up to five years, from time of enrollment through study completion or early termination

• Change in absolute neutrophil count (ANC) over time

  Up to five years, from time of enrollment through study completion or early termination

• Change in absolute lymphocyte count (ALC) over time

  Up to five years, from time of enrollment through study completion or early termination

• Change in serum immunoglobulin over time

  Up to five years, from time of enrollment through study completion or early termination

• Changes in anti-vaccine antibodies over time

  Up to five years, from time of enrollment through study completion or early termination

Interventions

No intervention OTHER

No intervention

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients diagnoses with WHIM syndrome.

You may qualify if:

• Has a confirmed clinical diagnosis of WHIM syndrome.
• Has signed the current approved informed consent form; patients under 18 years of age will sign an approved informed assent form and must also have a signed parental consent.
• Be willing and able to comply with the study protocol.

You may not qualify if:

• Has, within 6 months prior to Day 1, received a CXCR4 antagonist.
• Currently participating in an investigational study for treatment of WHIM.
• Has any other medical or personal condition that, in the opinion of the Investigator, may potentially compromise the safety or compliance of the patient, or may preclude the patient's successful completion of the clinical study.

Sponsors & Collaborators

• X4 Pharmaceuticals: lead

Biospecimen

Retention: SAMPLES WITH DNA

Blood or buccal swab for the purposes of identifying a CXCR4 mutation.

MeSH Terms

Conditions

WHIM syndrome; Primary Immunodeficiency Diseases; Warts; Agammaglobulinemia; Infections; Neutropenia; Herpes Simplex

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immunologic Deficiency Syndromes; Immune System Diseases; Papillomavirus Infections; DNA Virus Infections; Virus Diseases; Skin Diseases, Viral; Tumor Virus Infections; Skin Diseases, Infectious; Skin Diseases; Skin and Connective Tissue Diseases; Blood Protein Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Lymphoproliferative Disorders; Lymphatic Diseases; Agranulocytosis; Leukopenia; Cytopenia; Leukocyte Disorders; Herpesviridae Infections

Study Officials

• Sudha Parasuraman, MD

  X4 Pharmaceuticals, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 10, 2017
• First Posted: March 22, 2017
• Study Start: June 1, 2018
• Primary Completion: March 1, 2022
• Study Completion: March 1, 2022
• Last Updated: December 7, 2018

Record last verified: 2018-12

Data Sharing

• IPD Sharing: Will share