WHIM SyndromeNCT03087370
A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
An observational study of WHIM Syndrome, run by X4 Pharmaceuticals.
Trial 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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- WHIM Syndrome
- How many people
- 0 participants
- Where
- No sites listed yet
- Study dates
- Jun 2018to Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients diagnoses with WHIM syndrome.
Who may be able to join
- 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.
Who cannot join
- 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.
About this study
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.
Read the 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.
- Conditions
- WHIM Syndrome
- Being tested
- No intervention
- Keywords
- CXCR4 Mutation, Primary immunodeficiency disorder, Warts, Hypogammaglobulinemia, Infections, Myelokathexis, Human papillomavirus (HPV), Neutropenia, Herpes
- Medical subject headings
- WHIM syndrome, Primary Immunodeficiency Diseases, Warts, Agammaglobulinemia, Infections, Neutropenia, Herpes Simplex
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of infections
Infections assessed by hospitalizations (including intensive care), antibiotic use, outpatient medical appointments and missed days of school/work.
Measured: Up to five years, from time of enrollment through study completion or early termination
Severity of infections
Measured: Up to five years, from time of enrollment through study completion or early termination
Incidence of warts
Measured: 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.
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: Up to five years, from time of enrollment through study completion or early termination
Change in medical resource utilization
Measured: Up to five years, from time of enrollment through study completion or early termination
Change in absolute neutrophil count (ANC) over time
Measured: Up to five years, from time of enrollment through study completion or early termination
Change in absolute lymphocyte count (ALC) over time
Measured: Up to five years, from time of enrollment through study completion or early termination
Change in serum immunoglobulin over time
Measured: Up to five years, from time of enrollment through study completion or early termination
Changes in anti-vaccine antibodies over time
Measured: Up to five years, from time of enrollment through study completion or early termination
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2017
- Study startJun 2018 (estimated)
- Primary completionMar 2022 (estimated)
- Study completionMar 2022 (estimated)
Why it stopped: Company Decision
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for WHIM SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- X4 Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Sudha Parasuraman, MD, Study director, X4 Pharmaceuticals, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03087370
- Sponsor's protocol ID
- X4-WHIM-NTHX
- Status last verified
- Dec 2018
- First submitted
- 10 Mar 2017
- Last updated
- 7 Dec 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 7 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
- ClinicalTrials.gov ID
- NCT03087370
- Acronym / sponsor ID
- X4-WHIM-NTHX
- Conditions
- WHIM Syndrome
- Keywords
- CXCR4 Mutation, Primary immunodeficiency disorder, Warts, Hypogammaglobulinemia, Infections, Myelokathexis, Human papillomavirus (HPV), Neutropenia
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Company Decision
- Enrolment
- 0 participants (actual)
- Lead sponsor
- X4 PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Jun 2018 (estimated)
- Primary completion
- Mar 2022 (estimated)
- Study completion
- Mar 2022 (estimated)
- First posted
- 22 Mar 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients diagnoses with WHIM syndrome.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionNo intervention | Other | – |
Primary outcome
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.
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
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.
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)
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)
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)
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)
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
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Dec 2018.
- Individual participant dataSharing planned: Yes
Related trials for WHIM Syndrome
RecruitingPhase 1/2
Diagnostic Value of CXCR4-targeted PET/CT in ACTH-dependent and Independent Cushing's Syndrome
Cushing s Syndrome
Enrolling by invitationPhase 1/2
Base-Edited Hematopoietic Stem/Progenitor Cell Gene Therapy for Treatment of CXCR4-WHIM
WHIM, Warts
RecruitingPhase 3
A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections
Neutropenia
RecruitingObservational study
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
Shwachman-Diamond Syndrome, SDS
RecruitingObservational study
The Role of Cxcr4Hi neutrOPhils in InflueNza
Influenza, Acute Respiratory Distress Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sudha Parasuraman, MD study director
X4 Pharmaceuticals, Inc.
Questions about this trial
What is this clinical trial studying?
An observational study of WHIM Syndrome, run by X4 Pharmaceuticals.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 7 Dec 2018. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of infections (time frame: Up to five years, from time of enrollment through study completion or early termination). The study lists 13 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Dec 2018.