Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced)Phase 2NCT05398809
Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata
A Phase 2 study testing Ruxolitinib in people with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced) and Alopecia Areata, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a problem of the immune system. In people with APECED, the immune system makes a mistake and attacks the body. Some people with APECED have a type of hair loss called alopecia areata (AA). No drugs are approved to treat AA. Read more about this study
- Who is it for?
- Ages 12 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced), Alopecia Areata
- What is being tested?
- Ruxolitinib
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 70 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Jan 2023to 1 Dec 2027
- Phase
- Phase 2
- 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 12 to 75 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- For participants with APECED-associated AA:
- Participant must be able to understand and provide informed consent.
- Aged >=12 to <=75 years.
- Patients with APECED (genetic or clinical diagnosis) and severe AA (defined as having >=50% total scalp loss at screening per the SALT score).
- Duration of hair loss greater than 6 months.
- No present evidence of hair regrowth.
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- Is na(SqrRoot) ve or unresponsive to other treatments for AA.
- No treatment for alopecia in the past 2 months prior to study enrollment.
- Willingness to use valacyclovir prophylaxis for the prevention of herpes viral reactivation.
- Vaccinations should be up to date in agreement with current CDC immunization guidelines prior to start of ruxolitinib.
- Proficient in written English.
- Participants who can get pregnant or impregnate their partner must agree to use at least one highly effective method of contraception when engaging in sexual activities that can result in pregnancy, starting at screening until 12 weeks after the last dose. Highly effective contraceptive measures include:
- Stable use of combined (estrogen- and progestogen-containing) hormonal contraception (oral, intravaginal, transdermal) or progestogen-only hormonal contraception (oral, injectable, implantable) starting 1 month prior to screening.
- Intrauterine device; intrauterine hormone-releasing system.
- Two barrier methods (eg, condom with spermicide, diaphragm with spermicide, or cervical cap and spermicide). Internal and external condoms may not be used together.
- Bilateral tubal ligation.
- Periodic abstinence (calendar, symptothermal, and post-ovulation methods), withdrawal (coitus interruptus), spermicides only, and lactational amenorrhea method are not acceptable methods of contraception.
- For family members or household contacts:
- Aged >=18 years.
- Lives with the participant.
- Proficient in written English.
Who cannot join
- For participants with APECED-associated AA:
- Known history of hypersensitivity to ruxolitinib or other JAK inhibitors.
- History of or active skin disease on the scalp other than AA, such as psoriasis or seborrheic dermatitis.
- Diagnosis of AA is in question or the pattern of hair loss is such that quantification of hair loss and assessment of regrowth is difficult, eg, patients with androgenic alopecia.
- Treated within the last 2 months with intralesional steroids, systemic steroids, anthralin, squaric acid, diphenylcyclopropenone, tacrolimus, minoxidil, or other medication that, in the opinion of the investigator, may affect hair regrowth.
- Current or recent use of any investigational drug (within 3 months or 5 half-lives, whichever is longer, prior to screening).
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- Scheduled to participate in another clinical study involving an investigational drug during the course of this study.
- Use of systemic immunosuppressive or immune-modulating agents within 3 months prior to screening, except systemic steroids 10 mg of prednisone equivalent per day.
- Current use of systemic steroids with daily dose >10 mg of prednisone equivalent for any reason or steroid burst for >3 days within 1 month of screening.
- History of alcohol or drug abuse within 6 months prior to screening.
- Presence of one or more of the following clinically significant laboratory abnormalities:
- Serum ALT>=3 times upper limit of normal (ULN).
- Serum total bilirubin >=2 times ULN.
- ANC<=1000 cells/microliter.
- Hemoglobin <=9.0 g/dL.
- Platelet count <=100,000/microliter.
- Serum creatinine >=2 times ULN.
- Planned or anticipated major surgical procedure during the study.
- Plans to receive any live vaccines within 1 month of the anticipated first dose of ruxolitinib.
- Known or suspected immunodeficiency disorder besides APECED.
- History of untreated invasive opportunistic infections (eg, tuberculosis, non-tuberculous mycobacterial infections, histoplasmosis, listeriosis, coccidioidomycosis, pneumocystis pneumonia, aspergillosis) despite infection resolution or otherwise recurrent infections of
- abnormal frequency or prolonged infections suggesting an immune-compromised status as judged by the investigator.
- Untreated latent tuberculosis infection.
- Infection with HIV.
- Untreated infection with hepatitis B or C.
- History of serious bacterial infection within the last 3 months prior to screening, unless treated and resolved with antibiotics, or any chronic bacterial infection (eg, chronic pyelonephritis, osteomyelitis).
- History of unprovoked DVT, PE, arterial thrombosis, or other thrombotic events.
- History of stroke, heart attack, or heart failure.
- History of herpes zoster or cytomegalovirus infection that resolved within 2 months prior to screening.
- History of basal cell carcinoma, localized squamous cell carcinoma of the skin, or in situ carcinoma of the cervix, unless the participant is in remission and curative therapy was completed at least 12 months prior to screening.
- History of other malignancies, unless the participant is in remission and curative therapy was completed at least 5 years prior to screening.
- Planned or anticipated use of any prohibited medications and procedures during the study.
- Current pregnancy or breastfeeding.
- Past or current medical problems or findings from physical examination, EKG, or laboratory testing that are not listed above, which, in the opinion of the investigator, may pose additional risks from participation in the study, may interfere with the participant s ability to comply with study requirements or that may impact the quality or interpretation of the data obtained from the study.
- There are no exclusion criteria for family members or household contacts.
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
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: A Phase 2 Open-Label Study to Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata
Background:
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a problem of the immune system. In people with APECED, the immune system makes a mistake and attacks the body. Some people with APECED have a type of hair loss called alopecia areata (AA). No drugs are approved to treat AA.
Read more
Objective:
To see if a study drug (ruxolitinib) can help hair regrowth in people with APECED-associated AA and if it can improve other symptoms caused by the immune system s attack to the body.
Eligibility:
People aged 12 to 65 years with APECED and severe AA.
Design:
Participants will be in this study for up to 10 months. They will have 5 in-person visits and 6 televisits, each about 4 weeks apart. One in-person visit may be up to a 10-day stay in the hospital.
The first in-person visit will include screening. Participants will have a physical exam. They will have blood tests. Photographs may be taken of their skin. They will answer questions about their quality of life.
Participants will begin taking the study drug during their hospital stay. They will take the pills by mouth twice a day for 8 months. Researchers may take tissue samples from participants scalp, gums, and lower lip. Participants may provide samples of urine, stool, nail clippings, and saliva. They may have an eye exam and an ultrasound exam of their abdomen.
Some tests may be repeated in subsequent in-person visits.
In telehealth visits, participants will answer questions about how they are feeling. They will describe and send photos of hair regrowth. They will be asked to have blood drawn and the results sent to the researchers.
Read the detailed description
Study Description:
This is a phase 2 open-label study to evaluate the efficacy and safety of the Janus-associated kinase (JAK) inhibitor, ruxolitinib, in severe APECED-associated alopecia areata (AA). Following an 8-week observation period to assess baseline disease state, qualifying participants may be admitted for up to 10 days for an inpatient visit to start receiving twice daily dosing of oral ruxolitinib. The dose will be increased at weeks 8 and 16, but may be maintained or reduced if the participant experiences certain adverse events (AEs). The total duration of the ruxolitinib regimen is 8 months. At in-person study visits, participants will be monitored for AEs/reactions and will complete patient-reported outcome (PRO) metrics to track their symptoms and general wellbeing. Participants will also have televisits during the months when there is no in-person visit, for AE assessment and local blood draws for safety labs.
Family members or household contacts of participants will also be enrolled to complete a quality-of-life survey, for comparison with a corresponding patient survey.
Primary Objective:
To evaluate the efficacy of ruxolitinib on hair regrowth in participants with APECED-associated AA.
Secondary Objectives:
- To evaluate the safety of ruxolitinib in patients with APECED-associated AA.
- To assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment.
- To investigate the effect of ruxolitinib on PROs related to hair regrowth.
- To evaluate the effect of ruxolitinib on histologic and immunologic features of the skin.
Exploratory Objectives:
- To investigate the effect of ruxolitinib on improving clinical symptoms and associated laboratory, histologic, and immunologic abnormalities in affected organs and tissues beyond the skin.
- To investigate the effect of ruxolitinib on PROs of affected organs and tissues beyond the skin.
- To investigate the effect of ruxolitinib on prevention of development of new APECED associated complications during the 32-week treatment period.
- To examine the effects of ruxolitinib on ameliorating immunologic readouts of excessive interferon (IFN)- >=/JAK/STAT signaling in peripheral blood and affected organs and tissues beyond the skin.
- To determine whether ruxolitinib treatment affects the composition of microbial communities at the mucocutaneous barriers.
Primary Endpoint:
Response defined as a 30 percent improvement from baseline in the Severity of Alopecia Tool (SALT) score at 32 weeks.
Secondary Endpoints:
- Incidence of SAEs, AEs requiring study drug discontinuation, and other AEs.
- Achievement of 30 percent improvement of SALT score (SALT30) at week 16.
- Achievement of 50 percent improvement of SALT score (SALT50) at week 32.
- Achievement of SALT score <=20 at week 32.
- Time for participants to achieve SALT score <=20.
- Time for participants to achieve SALT30 and SALT50.
- Percentage of hair regrowth at week 32.
- Improvement of Alopecia Areata Symptom Impact Scale (AASIS) score from baseline at week 32.
- Improvement of Dermatology Life Quality Index (DLQI) score (adults) from baseline at week 32.
- Improvement of Children s Dermatology Life Quality Index (CDLQI) score (pediatrics) from baseline at week 32.
- Improvement of Family Dermatology Life Quality Index (FDLQI) score (family members or household contacts) from baseline at week 32.
- Improvement of the 36-Item Short Form Survey (SF-36) score (adults) from baseline at week 32.
- Improvement of the Pediatric Quality of Life Inventory (PedsQL) score (pediatrics) from baseline at week 32.
- PRO for Scalp Hair Assessment Score of 0 or 1 with a >=2-point improvement from baseline among participants with a score of >=3 at baseline at week 32.
- Improvement of AA investigator global assessment (IGA) measure from baseline at week 32.
- Achievement of clinician-reported outcome (ClinRO) measure for eyebrow (EB) hair loss 0 or 1 with >=2-point improvement from baseline (among participants with ClinRO measure for EB hair loss >=2 at baseline) at week 32.
- Achievement of ClinRO measure for eyelash (EL) hair loss 0 or 1 with >=2-point improvement from baseline (among participants with ClinRO measure for EL hair loss 2 at baseline) at week 32.
- Change from baseline in Skindex-16 AA symptoms, emotions, and functioning domain scores at week 32.
- Change from baseline in histologic and immunologic abnormalities of scalp tissue at week 32.
Exploratory Endpoints:
- Change from baseline in histologic or immunologic abnormalities of salivary gland tissue in participants with Sj(SqrRoot)(Delta)gren s-like syndrome at week 32.
- Change from baseline in histologic or immunologic abnormalities of oral mucosal tissue at week 32.
- Change from baseline in histologic or immunologic abnormalities of gastric tissue in participants with gastritis at week 32.
- Change from baseline in histologic or immunologic abnormalities of duodenal tissue in participants with intestinal dysfunction at week 32.
- Time to development of next APECED-associated manifestation(s) over the 32-week treatment period.
- Number of APECED-associated manifestations developed over the 32-week treatment period.
- Development of new APECED-associated manifestation(s) over the 32-week treatment period.
- Change from baseline in irritable bowel syndrome (IBS) quality of life (QOL) and small intestinal bacterial overgrowth (SIBO) questionnaire scores in participants with intestinal dysfunction at week 32.
- Change from baseline in salivary flow rate in participants with Sj(SqrRoot)(Delta)gren s-like syndrome at week 32.
- Change from baseline in corticosteroid dose requirements, adrenocorticotropic hormone, cortisol, electrolyte, and renin levels in participants with adrenal insufficiency at week 32.
- Change from baseline in thyroid hormone replacement dose requirements, thyroid-stimulating hormone (TSH), free and total thyroxine, anti-thyroglobulin, and thyroid peroxidase antibody in participants with hypothyroidism at week 32.
- Change from baseline in calcium replacement requirements, intact parathyroid hormone, and calcium levels in participants with hypoparathyroidism.
- Change from baseline in insulin requirements, hemoglobin A1C (HbA1c), fasting glucose, insulin, c-peptide, urine ketone, and glucose levels in participants with type 1 diabetes at week 32.
- Change from baseline in levels of follicle-stimulating hormone, estradiol, Anti-Mullerian hormone, total and free testosterone, and sex hormone binding globulin in participants with hypogonadism at week 32.
- Change from baseline in vitamin B12 and intrinsic factor antibody levels in participants with pernicious anemia at week 32.
- Change from baseline in Vitiligo Area Scoring Index (VASI) in participants with vitiligo at week 32.
- Change from baseline in Ocular Surface Disease Index score (OSDI) in participants with dry eyes at week 32.
- Change from baseline measure corneal fluorescein staining (grading scale), tear breakup time (TBUT, in seconds), automated keratography TBUT, and tear meniscus assessments in participants with keratoconjunctivitis at week 32.
- Change from baseline grade of conjunctival redness in participants with keratoconjunctivitis at week 32.
- Change from baseline in tear production as assessed by Schirmer s test in participants with Sj(SqrRoot)(Delta)gren s-like syndrome at week 32.
- Change from baseline in frequency and severity for oral, vaginal, and/or nail candidiasis during the 32-week treatment period.
- Change from baseline in spleen volume as measured by ultrasound at week 32.
- Change from baseline in nail appearance in participants with nail dystrophy at week 32.
- Improvement in ClinRO PRO for nail appearance from baseline at 32 weeks.
- Change from baseline in cytokine- and tissue-specific autoantibodies over the 32-week treatment period.
- Change from baseline of levels of phosphorylated STAT molecules in peripheral blood mononuclear cells (PBMCs) over the 32-week treatment period.
- Change from baseline in serum levels of IFN-Y, CXCL9, CXCL10, and/or other immune-based biomarkers over the 32-week treatment period.
- Change from baseline in transcriptional profile in whole blood and tissue biopsies over the 32-week treatment period.
- Change from baseline in the oral, vaginal, stool, and/or skin microbiome over the 32-week treatment period.
- Being tested
- Ruxolitinib
- Keywords
- Aps-1, Aire, Jak, Autiommunity, Hair Loss
- Medical subject headings
- Polyendocrinopathies, Autoimmune, Alopecia Areata, Alopecia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RuxolitinibDrug
Ruxolitinib (Jakafi) is approved by the FDA for the treatment of intermediate or high-risk myelofibrosis in adults, polycythemia vera in adults who have had an inadequate response to or are intolerant of hydroxyurea, and acute and chronic graft-versus-host disease in adult and pediatric patients (aged =12 years).
| Study group | Role | What they receive |
|---|---|---|
| Ruxolitinib/APECED-AA Patients | Experimental | All participants receiving IP through this protocol (APECED-AA patients)will receive ruxolitinib. Receives: Drug: Ruxolitinib |
What is being measured
The primary outcome is the main question the study is designed to answer.
Response defined as a 30% improvement from baseline in the Severity of Alopecia Tool (SALT) score at 32 weeks.
To evaluate the efficacy of ruxolitinib on hair regrowth in participants with APECED-associated AA
Measured: 32 weeks
Secondary outcomes (17)
Improvement of AA-IGA measure from baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Improvement of DLQI score (adults) from baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Improvement of AASIS score from baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Percentage of hair regrowth at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Time for participants to achieve SALT30 and SALT50.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Variable
Achievement of SALT50 at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Achievement of SALT30 at week 16.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 16
Change from baseline in histologic and immunologic abnormalities of scalp tissue at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Change from baseline in Skindex-16 AA symptoms, emotions, and functioning domain scores at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Achievement of ClinRO measure for EL hair loss 0 or 1 with =2-point improvement from baseline (among participants with ClinRO measure for EL hair loss =2 at baseline) at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
16. Achievement of ClinRO measure for EB hair loss 0 or 1 with =2-point improvement from baseline (among participants with ClinRO measure for EB hair loss =2 at baseline) at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
PRO for Scalp Hair Assessment Score of 0 or 1 with a =2-point improvement from baseline among participants with a score of =3 at baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Improvement of PedsQL score (pediatrics) from baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Improvement of SF-36 score (adults) from baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Improvement of FDLQI score (family members or household contacts) from baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Improvement of CDLQI score (pediatrics) from baseline at week 32.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: Week 32
Incidence of SAEs, AEs requiring study drug discontinuation, and other AEs.
- To evaluate the safety of ruxolitinib in patients with APECED associated AA 2. Assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment. 3. Investigate the effect of ruxolitinib on PROs related to hair regrowth. 4. Evaluate the effect of ruxolitinib on the histologic and immunologic features of the skin.
Measured: End of Study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jun 2022
- Study start18 Jan 2023
- Primary completion1 Dec 2027 (estimated)
- Study completion1 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced)Studies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Michail S Lionakis, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05398809
- Sponsor's protocol ID
- 10000861
- Other IDs
- 000861-I
- Status last verified
- 30 Oct 2026
- First submitted
- 26 May 2022
- Last updated
- 6 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 2 Open-Label Study to Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata
- ClinicalTrials.gov ID
- NCT05398809
- Acronym / sponsor ID
- 10000861
- Keywords
- Aps-1, Aire, Jak, Autiommunity, Hair Loss
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 18 Jan 2023 (actual)
- Primary completion
- 1 Dec 2027 (estimated)
- Study completion
- 1 Dec 2027 (estimated)
- First posted
- 1 Jun 2022 (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.
Background:
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a problem of the immune system. In people with APECED, the immune system makes a mistake and attacks the body. Some people with APECED have a type of hair loss called alopecia areata (AA). No drugs are approved to treat AA.
Objective:
To see if a study drug (ruxolitinib) can help hair regrowth in people with APECED-associated AA and if it can improve other symptoms caused by the immune system s attack to the body.
Eligibility:
People aged 12 to 65 years with APECED and severe AA.
Design:
Participants will be in this study for up to 10 months. They will have 5 in-person visits and 6 televisits, each about 4 weeks apart. One in-person visit may be up to a 10-day stay in the hospital.
The first in-person visit will include screening. Participants will have a physical exam. They will have blood tests. Photographs may be taken of their skin. They will answer questions about their quality of life.
Participants will begin taking the study drug during their hospital stay. They will take the pills by mouth twice a day for 8 months. Researchers may take tissue samples from participants scalp, gums, and lower lip. Participants may provide samples of urine, stool, nail clippings, and saliva. They may have an eye exam and an ultrasound exam of their abdomen.
Some tests may be repeated in subsequent in-person visits.
In telehealth visits, participants will answer questions about how they are feeling. They will describe and send photos of hair regrowth. They will be asked to have blood drawn and the results sent to the researchers.
Detailed description
Study Description:
This is a phase 2 open-label study to evaluate the efficacy and safety of the Janus-associated kinase (JAK) inhibitor, ruxolitinib, in severe APECED-associated alopecia areata (AA). Following an 8-week observation period to assess baseline disease state, qualifying participants may be admitted for up to 10 days for an inpatient visit to start receiving twice daily dosing of oral ruxolitinib. The dose will be increased at weeks 8 and 16, but may be maintained or reduced if the participant experiences certain adverse events (AEs). The total duration of the ruxolitinib regimen is 8 months. At in-person study visits, participants will be monitored for AEs/reactions and will complete patient-reported outcome (PRO) metrics to track their symptoms and general wellbeing. Participants will also have televisits during the months when there is no in-person visit, for AE assessment and local blood draws for safety labs.
Family members or household contacts of participants will also be enrolled to complete a quality-of-life survey, for comparison with a corresponding patient survey.
Primary Objective:
To evaluate the efficacy of ruxolitinib on hair regrowth in participants with APECED-associated AA.
Secondary Objectives:
- To evaluate the safety of ruxolitinib in patients with APECED-associated AA.
- To assess additional measures of efficacy related to hair regrowth in response to ruxolitinib treatment.
- To investigate the effect of ruxolitinib on PROs related to hair regrowth.
- To evaluate the effect of ruxolitinib on histologic and immunologic features of the skin.
Exploratory Objectives:
- To investigate the effect of ruxolitinib on improving clinical symptoms and associated laboratory, histologic, and immunologic abnormalities in affected organs and tissues beyond the skin.
- To investigate the effect of ruxolitinib on PROs of affected organs and tissues beyond the skin.
- To investigate the effect of ruxolitinib on prevention of development of new APECED associated complications during the 32-week treatment period.
- To examine the effects of ruxolitinib on ameliorating immunologic readouts of excessive interferon (IFN)- >=/JAK/STAT signaling in peripheral blood and affected organs and tissues beyond the skin.
- To determine whether ruxolitinib treatment affects the composition of microbial communities at the mucocutaneous barriers.
Primary Endpoint:
Response defined as a 30 percent improvement from baseline in the Severity of Alopecia Tool (SALT) score at 32 weeks.
Secondary Endpoints:
- Incidence of SAEs, AEs requiring study drug discontinuation, and other AEs.
- Achievement of 30 percent improvement of SALT score (SALT30) at week 16.
- Achievement of 50 percent improvement of SALT score (SALT50) at week 32.
- Achievement of SALT score <=20 at week 32.
- Time for participants to achieve SALT score <=20.
- Time for participants to achieve SALT30 and SALT50.
- Percentage of hair regrowth at week 32.
- Improvement of Alopecia Areata Symptom Impact Scale (AASIS) score from baseline at week 32.
- Improvement of Dermatology Life Quality Index (DLQI) score (adults) from baseline at week 32.
- Improvement of Children s Dermatology Life Quality Index (CDLQI) score (pediatrics) from baseline at week 32.
- Improvement of Family Dermatology Life Quality Index (FDLQI) score (family members or household contacts) from baseline at week 32.
- Improvement of the 36-Item Short Form Survey (SF-36) score (adults) from baseline at week 32.
- Improvement of the Pediatric Quality of Life Inventory (PedsQL) score (pediatrics) from baseline at week 32.
- PRO for Scalp Hair Assessment Score of 0 or 1 with a >=2-point improvement from baseline among participants with a score of >=3 at baseline at week 32.
- Improvement of AA investigator global assessment (IGA) measure from baseline at week 32.
- Achievement of clinician-reported outcome (ClinRO) measure for eyebrow (EB) hair loss 0 or 1 with >=2-point improvement from baseline (among participants with ClinRO measure for EB hair loss >=2 at baseline) at week 32.
- Achievement of ClinRO measure for eyelash (EL) hair loss 0 or 1 with >=2-point improvement from baseline (among participants with ClinRO measure for EL hair loss 2 at baseline) at week 32.
- Change from baseline in Skindex-16 AA symptoms, emotions, and functioning domain scores at week 32.
- Change from baseline in histologic and immunologic abnormalities of scalp tissue at week 32.
Exploratory Endpoints:
- Change from baseline in histologic or immunologic abnormalities of salivary gland tissue in participants with Sj(SqrRoot)(Delta)gren s-like syndrome at week 32.
- Change from baseline in histologic or immunologic abnormalities of oral mucosal tissue at week 32.
- Change from baseline in histologic or immunologic abnormalities of gastric tissue in participants with gastritis at week 32.
- Change from baseline in histologic or immunologic abnormalities of duodenal tissue in participants with intestinal dysfunction at week 32.
- Time to development of next APECED-associated manifestation(s) over the 32-week treatment period.
- Number of APECED-associated manifestations developed over the 32-week treatment period.
- Development of new APECED-associated manifestation(s) over the 32-week treatment period.
- Change from baseline in irritable bowel syndrome (IBS) quality of life (QOL) and small intestinal bacterial overgrowth (SIBO) questionnaire scores in participants with intestinal dysfunction at week 32.
- Change from baseline in salivary flow rate in participants with Sj(SqrRoot)(Delta)gren s-like syndrome at week 32.
- Change from baseline in corticosteroid dose requirements, adrenocorticotropic hormone, cortisol, electrolyte, and renin levels in participants with adrenal insufficiency at week 32.
- Change from baseline in thyroid hormone replacement dose requirements, thyroid-stimulating hormone (TSH), free and total thyroxine, anti-thyroglobulin, and thyroid peroxidase antibody in participants with hypothyroidism at week 32.
- Change from baseline in calcium replacement requirements, intact parathyroid hormone, and calcium levels in participants with hypoparathyroidism.
- Change from baseline in insulin requirements, hemoglobin A1C (HbA1c), fasting glucose, insulin, c-peptide, urine ketone, and glucose levels in participants with type 1 diabetes at week 32.
- Change from baseline in levels of follicle-stimulating hormone, estradiol, Anti-Mullerian hormone, total and free testosterone, and sex hormone binding globulin in participants with hypogonadism at week 32.
- Change from baseline in vitamin B12 and intrinsic factor antibody levels in participants with pernicious anemia at week 32.
- Change from baseline in Vitiligo Area Scoring Index (VASI) in participants with vitiligo at week 32.
- Change from baseline in Ocular Surface Disease Index score (OSDI) in participants with dry eyes at week 32.
- Change from baseline measure corneal fluorescein staining (grading scale), tear breakup time (TBUT, in seconds), automated keratography TBUT, and tear meniscus assessments in participants with keratoconjunctivitis at week 32.
- Change from baseline grade of conjunctival redness in participants with keratoconjunctivitis at week 32.
- Change from baseline in tear production as assessed by Schirmer s test in participants with Sj(SqrRoot)(Delta)gren s-like syndrome at week 32.
- Change from baseline in frequency and severity for oral, vaginal, and/or nail candidiasis during the 32-week treatment period.
- Change from baseline in spleen volume as measured by ultrasound at week 32.
- Change from baseline in nail appearance in participants with nail dystrophy at week 32.
- Improvement in ClinRO PRO for nail appearance from baseline at 32 weeks.
- Change from baseline in cytokine- and tissue-specific autoantibodies over the 32-week treatment period.
- Change from baseline of levels of phosphorylated STAT molecules in peripheral blood mononuclear cells (PBMCs) over the 32-week treatment period.
- Change from baseline in serum levels of IFN-Y, CXCL9, CXCL10, and/or other immune-based biomarkers over the 32-week treatment period.
- Change from baseline in transcriptional profile in whole blood and tissue biopsies over the 32-week treatment period.
- Change from baseline in the oral, vaginal, stool, and/or skin microbiome over the 32-week treatment period.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Ruxolitinib/APECED-AA Patients | Experimental | Drug: RuxolitinibAll participants receiving IP through this protocol (APECED-AA patients)will receive ruxolitinib. |
Who may qualify
- Ages
- 12 to 75 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (21 listed)
- Participant must be able to understand and provide informed consent.
- Aged >=12 to <=75 years.
- Patients with APECED (genetic or clinical diagnosis) and severe AA (defined as having >=50% total scalp loss at screening per the SALT score).
- Duration of hair loss greater than 6 months.
- No present evidence of hair regrowth.
Key exclusion criteria (35 listed)
- Known history of hypersensitivity to ruxolitinib or other JAK inhibitors.
- History of or active skin disease on the scalp other than AA, such as psoriasis or seborrheic dermatitis.
- Diagnosis of AA is in question or the pattern of hair loss is such that quantification of hair loss and assessment of regrowth is difficult, eg, patients with androgenic alopecia.
- Treated within the last 2 months with intralesional steroids, systemic steroids, anthralin, squaric acid, diphenylcyclopropenone, tacrolimus, minoxidil, or other medication that, in the opinion of the investigator, may affect hair regrowth.
- Current or recent use of any investigational drug (within 3 months or 5 half-lives, whichever is longer, prior to screening).
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 |
|---|---|---|
| RuxolitinibRuxolitinib (Jakafi) is approved by the FDA for the treatment of intermediate or high-risk myelofibrosis in adults, polycythemia vera in adults who have had an inadequate response to or are intolerant of hydroxyurea, and acute and chronic graft-versus-host disease in adult and pediatric patients (aged =12 years). | Drug | Ruxolitinib/APECED-AA Patients |
Primary outcome
Response defined as a 30% improvement from baseline in the Severity of Alopecia Tool (SALT) score at 32 weeks.
Time frame: 32 weeks
To evaluate the efficacy of ruxolitinib on hair regrowth in participants with APECED-associated AA
17 secondary outcomes
Improvement of AA-IGA measure from baseline at week 32.
Time frame: Week 32
Improvement of DLQI score (adults) from baseline at week 32.
Time frame: Week 32
Improvement of AASIS score from baseline at week 32.
Time frame: Week 32
Percentage of hair regrowth at week 32.
Time frame: Week 32
Time for participants to achieve SALT30 and SALT50.
Time frame: Variable
Achievement of SALT50 at week 32.
Time frame: Week 32
Achievement of SALT30 at week 16.
Time frame: Week 16
Change from baseline in histologic and immunologic abnormalities of scalp tissue at week 32.
Time frame: Week 32
Change from baseline in Skindex-16 AA symptoms, emotions, and functioning domain scores at week 32.
Time frame: Week 32
Achievement of ClinRO measure for EL hair loss 0 or 1 with =2-point improvement from baseline (among participants with ClinRO measure for EL hair loss =2 at baseline) at week 32.
Time frame: Week 32
16. Achievement of ClinRO measure for EB hair loss 0 or 1 with =2-point improvement from baseline (among participants with ClinRO measure for EB hair loss =2 at baseline) at week 32.
Time frame: Week 32
PRO for Scalp Hair Assessment Score of 0 or 1 with a =2-point improvement from baseline among participants with a score of =3 at baseline at week 32.
Time frame: Week 32
Improvement of PedsQL score (pediatrics) from baseline at week 32.
Time frame: Week 32
Improvement of SF-36 score (adults) from baseline at week 32.
Time frame: Week 32
Improvement of FDLQI score (family members or household contacts) from baseline at week 32.
Time frame: Week 32
Improvement of CDLQI score (pediatrics) from baseline at week 32.
Time frame: Week 32
Incidence of SAEs, AEs requiring study drug discontinuation, and other AEs.
Time frame: End of Study
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 6 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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.
Michail S Lionakis, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Ruxolitinib in people with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced) and Alopecia Areata, run by National Institute of Allergy and Infectious Diseases (NIAID) 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 21 inclusion and 35 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 6 Nov 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 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
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 Michail S Lionakis, M.D. (Not Listed, RepAIREStudyTeam@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Response defined as a 30% improvement from baseline in the Severity of Alopecia Tool (SALT) score at 32 weeks. (time frame: 32 weeks). 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 6 Nov 2026.