Clinical trial NCT03087370: A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
Official title: A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: WHIM Syndrome
Keywords: CXCR4 Mutation
Primary immunodeficiency disorder
Warts
Hypogammaglobulinemia
Infections
Myelokathexis
Human papillomavirus (HPV)
Neutropenia
Herpes
Lead sponsor: X4 Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2017-03-22
Enrollment: 0
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients diagnoses with WHIM syndrome.

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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

1. Has a confirmed clinical diagnosis of WHIM syndrome.
2. 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.
3. Be willing and able to comply with the study protocol.

Exclusion Criteria:

1. Has, within 6 months prior to Day 1, received a CXCR4 antagonist.
2. Currently participating in an investigational study for treatment of WHIM.
3. 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.

Primary outcomes:
measure: Incidence of infections
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Severity of infections
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Incidence of warts
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Severity of warts
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in quality of life over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in quality of life over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in quality of life over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in quality of life over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in medical resource utilization
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in absolute neutrophil count (ANC) over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in absolute lymphocyte count (ALC) over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Change in serum immunoglobulin over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
measure: Changes in anti-vaccine antibodies over time
timeFrame: Up to five years, from time of enrollment through study completion or early termination
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: X4 Pharmaceuticals, Inc.
name: Sudha Parasuraman, MD
role: STUDY_DIRECTOR
References: