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

December 5, 2018 updated by: X4 Pharmaceuticals
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.

Study Overview

Status

Withdrawn

Conditions

Intervention / Treatment

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.

Study Type

Observational

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients diagnoses with WHIM syndrome.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Incidence of infections
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
Up to five years, from time of enrollment through study completion or early termination
Severity of warts
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
Time Frame: Up to five years, from time of enrollment through study completion or early termination
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
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
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
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
Up to five years, from time of enrollment through study completion or early termination

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

X4 Pharmaceuticals

Investigators

  • Study Director: Sudha Parasuraman, MD, X4 Pharmaceuticals, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

June 1, 2018

Primary Completion (Anticipated)

March 1, 2022

Study Completion (Anticipated)

March 1, 2022

Study Registration Dates

First Submitted

March 10, 2017

First Submitted That Met QC Criteria

March 15, 2017

First Posted (Actual)

March 22, 2017

Study Record Updates

Last Update Posted (Actual)

December 7, 2018

Last Update Submitted That Met QC Criteria

December 5, 2018

Last Verified

December 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • X4-WHIM-NTHX

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Yes

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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