An observational study in WHIM Syndrome, sponsored by X4 Pharmaceuticals. Withdrawn. Per ClinicalTrials.gov, last updated 2018-12-07.
Sponsored by X4 Pharmaceuticals · Observational
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.
Given the rarity of patients with WHIM syndrome, this study is being conducted to better understand the clinical course of untreated patients with WHIM syndrome.
The goals of this Natural History Study are to define both the frequency and diversity of WHIM syndrome by specific genetic mutation, as well as to understand the clinical course and phenotype of untreated WHIM patients.
180 studies on the registry are indexed under Warts; 28 are open to participants now.
Browse Warts studies →X4 Pharmaceuticals is the lead sponsor of 12 studies on the registry; 1 is open to participants now.
Of its 10 completed or terminated interventional studies of FDA-regulated products, 3 (30%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patients diagnoses with WHIM syndrome.
Exclusion Criteria:
No intervention
Incidence of infections
Infections assessed by hospitalizations (including intensive care), antibiotic use, outpatient medical appointments and missed days of school/work.
Time frame: Up to five years, from time of enrollment through study completion or early termination
Severity of infections
Time frame: Up to five years, from time of enrollment through study completion or early termination
Incidence of warts
Time frame: 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.
Time frame: 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)
Time frame: 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)
Time frame: 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)
Time frame: 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)
Time frame: Up to five years, from time of enrollment through study completion or early termination
Change in medical resource utilization
Time frame: Up to five years, from time of enrollment through study completion or early termination
Change in absolute neutrophil count (ANC) over time
Time frame: Up to five years, from time of enrollment through study completion or early termination
Change in absolute lymphocyte count (ALC) over time
Time frame: Up to five years, from time of enrollment through study completion or early termination
Change in serum immunoglobulin over time
Time frame: Up to five years, from time of enrollment through study completion or early termination
Changes in anti-vaccine antibodies over time
Time frame: Up to five years, from time of enrollment through study completion or early termination
No study locations are listed for this record.
Plan to share: Yes
No publications or documents are linked to this record.
This study is withdrawn, as verified in Dec 2018. You cannot join it, but the record below documents what was studied.
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X4 Pharmaceuticals