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

Brief Title

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

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.
    


Study Type

Observational


Primary Outcome

Incidence of infections


Condition

WHIM Syndrome

Intervention

No intervention


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

0

Start Date

June 2018

Completion Date

March 2022

Primary Completion Date

March 2022

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.
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Sudha Parasuraman, MD, , 



Administrative Informations


NCT ID

NCT03087370

Organization ID

X4-WHIM-NTHX


Responsible Party

Sponsor

Study Sponsor

X4 Pharmaceuticals


Study Sponsor

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


Verification Date

December 2018