XIAP DeficiencyPhase 1NCT07433621
Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency
A Phase 1 study testing Quercetin in people with XIAP Deficiency, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
Trial summary
The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases. Read more about this study
- Who is it for?
- Ages 2 years and older, men only
- Conditions the study is for
- XIAP Deficiency
- What is being tested?
- Quercetin
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Feb 2026to Jun 2029
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
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 2 years and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Male patients
- Diagnosis of XIAP deficiency
- Patients ≥2 years of age
- Serum IL-18 ≥600 pg/mL (approximately 25% above the lab-defined upper limit of normal of 477 pg/mL)
- Able to take enteral medication
Who cannot join
- Renal failure requiring dialysis
- Total bilirubin >3 mg/dl and/or SGPT >300 at time of enrollment
- Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons
- Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons
- Patients who are at risk of pregnancy or fathering a child and are unable to use acceptable methods of birth control during the length of the study
- Patients who have received quercetin or any over the counter anti-oxidant supplementation within last 1 month
- Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care
- Participating in another therapeutic study for XIAP deficiency
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Kelly McIntosh, 513-803-0460, kelly.mcintosh@cchmc.org
Richard Cooper, 513-803-7450, richard.cooper@cchmc.org
About this study
Official title: A Pilot Study to Evaluate Safety and Tolerability, Pharmacokinetics, and Preliminary Efficacy of Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency
The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases.
Read the detailed description
XIAP deficiency is a rare genetic immune disorder. XIAP usually suppresses inflammation and XIAP deficiency leads to increased inflammation. Patients may develop several inflammatory problems including hemophagocytic lymphohistiocytosis (HLH), a life-threatening syndrome of overwhelming inflammation characterized by fever, low blood counts (cytopenias), an enlarged spleen, liver problems, seizures, and other manifestations. Patients may develop milder symptoms such recurrent fevers or problems with low blood counts. Inflammatory bowel disease (IBD), arthritis or inflammation of the eyes (uveitis) can also occur, among other more rare complications. XIAP deficiency is often life-threatening and patients with severe disease require treatment with allogeneic hematopoietic cell transplantation (HCT), which is the only available curative treatment. Unfortunately, allogeneic HCT is associated with a high risk of mortality and significant side effects. Therefore, it's important to find other treatment options that are safe without major side effects.
The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases.
- Conditions
- XIAP Deficiency
- Being tested
- Quercetin
- Medical subject headings
- Lymphoproliferative Syndrome, X-Linked, 2
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuercetinDrug
Quercetin will be administered orally at a weight adjusted dose for a maximum total daily dose of 4000mg/day, divided twice a day. If the patient is 70 kg or more, the dose will automatically be assigned at the maximum dose of 4000mg/day. Patients will be instructed to mix quercetin with a small amount of yogurt or other preferred food for ingestion.
| Study group | Role | What they receive |
|---|---|---|
| Quercetin | Experimental | All subjects will receive a weight adjusted dose of quercetin for a maximum total daily dose of 4000mg/day, divided twice a day. Receives: Drug: Quercetin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety of quercetin in patients with XIAP deficiency
Assessment of AEs
Measured: 6 months
Tolerability of quercetin in patients with XIAP deficiency
Number of subjects who discontinue study drug due to intolerance
Measured: 6 months
Secondary outcomes (1)
Pharmacokinetics (PK) of quercetin in patients with XIAP deficiency
'Area under the curve (AUC)' will be utilized to describe PK of quercetin in these patients
Measured: Pre and post dose at baseline, 2 months, and 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2026
- Study start26 Feb 2026
- Primary completionNov 2028 (estimated)
- Study completionJun 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for XIAP DeficiencyStudies of the same condition, open and under way.
- More trials run by Children's Hospital Medical Center, CincinnatiThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Rebecca Marsh, MD, Principal investigator, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07433621
- Sponsor's protocol ID
- 2024-0601
- Status last verified
- Mar 2026
- First submitted
- 20 Feb 2026
- Last updated
- 27 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Pilot Study to Evaluate Safety and Tolerability, Pharmacokinetics, and Preliminary Efficacy of Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency
- ClinicalTrials.gov ID
- NCT07433621
- Acronym / sponsor ID
- 2024-0601
- Conditions
- XIAP Deficiency
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Children's Hospital Medical Center, CincinnatiUniversity, hospital or other
- Study start
- 26 Feb 2026 (actual)
- Primary completion
- Nov 2028 (estimated)
- Study completion
- Jun 2029 (estimated)
- First posted
- 25 Feb 2026 (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.
The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases.
Detailed description
XIAP deficiency is a rare genetic immune disorder. XIAP usually suppresses inflammation and XIAP deficiency leads to increased inflammation. Patients may develop several inflammatory problems including hemophagocytic lymphohistiocytosis (HLH), a life-threatening syndrome of overwhelming inflammation characterized by fever, low blood counts (cytopenias), an enlarged spleen, liver problems, seizures, and other manifestations. Patients may develop milder symptoms such recurrent fevers or problems with low blood counts. Inflammatory bowel disease (IBD), arthritis or inflammation of the eyes (uveitis) can also occur, among other more rare complications. XIAP deficiency is often life-threatening and patients with severe disease require treatment with allogeneic hematopoietic cell transplantation (HCT), which is the only available curative treatment. Unfortunately, allogeneic HCT is associated with a high risk of mortality and significant side effects. Therefore, it's important to find other treatment options that are safe without major side effects.
The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency. Quercetin is a naturally occurring antioxidant that has many properties including the ability to decrease inflammation in other diseases.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Quercetin | Experimental | Drug: QuercetinAll subjects will receive a weight adjusted dose of quercetin for a maximum total daily dose of 4000mg/day, divided twice a day. |
Who may qualify
- Ages
- 2 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Male patients
- Diagnosis of XIAP deficiency
- Patients ≥2 years of age
- Serum IL-18 ≥600 pg/mL (approximately 25% above the lab-defined upper limit of normal of 477 pg/mL)
- Able to take enteral medication
Key exclusion criteria (8 listed)
- Renal failure requiring dialysis
- Total bilirubin >3 mg/dl and/or SGPT >300 at time of enrollment
- Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons
- Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons
- Patients who are at risk of pregnancy or fathering a child and are unable to use acceptable methods of birth control during the length of the 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 |
|---|---|---|
| QuercetinQuercetin will be administered orally at a weight adjusted dose for a maximum total daily dose of 4000mg/day, divided twice a day. If the patient is 70 kg or more, the dose will automatically be assigned at the maximum dose of 4000mg/day. Patients will be instructed to mix quercetin with a small amount of yogurt or other preferred food for ingestion. | Drug | Quercetin |
Primary outcome
Safety of quercetin in patients with XIAP deficiency
Time frame: 6 months
Assessment of AEs
Tolerability of quercetin in patients with XIAP deficiency
Time frame: 6 months
Number of subjects who discontinue study drug due to intolerance
1 secondary outcome
Pharmacokinetics (PK) of quercetin in patients with XIAP deficiency
Time frame: Pre and post dose at baseline, 2 months, and 6 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2026.
Related trials for XIAP Deficiency
Active, not recruitingPhase 2
Study to Evaluate the Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations
NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations
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.
Rebecca Marsh, MD principal investigator
Children's Hospital Medical Center, Cincinnati
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Quercetin in people with XIAP Deficiency, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
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 5 inclusion and 8 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: looking for participants now, as of the sponsor's last update on 27 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
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.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kelly McIntosh (513-803-0460, Kelly.mcintosh@cchmc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety of quercetin in patients with XIAP deficiency (time frame: 6 months). The study lists 2 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 27 Mar 2026.