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22Q11.2 Deletion SyndromePhase 2INSPIRENCT05149898

Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)

A Phase 2 study testing ZYN002 in people with 22Q11.2 Deletion Syndrome, run by Harmony Biosciences Management, Inc. at 3 sites in 2 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
Search all trials

Trial summary

To evaluate the safety and tolerability of ZYN002 administered as a transdermal gel formulation, for up to 38 weeks, in participants ages 4 to <18 years, in the treatment of 22q.11.2 Deletion syndrome (22qDS). Read more about this study

Who is it for?
Ages 4 to 17 years
Conditions the study is for
22Q11.2 Deletion Syndrome
What is being tested?
ZYN002
Could I receive a placebo?
No, everyone receives an active treatment
How many people
20 participants
Where
3 sitesin 2 countries
Study dates
19 Feb 2020to 9 Nov 2022
Phase
Phase 2
Are there results?
Yes, posted in the registrySummary in the doctors' view

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 4 to 17 years
  • All sexes
  • No healthy volunteers
  • Child

Who may be able to join

  • Male or female children and adolescents aged 4 to less than 18 years, at the time of Screening.
  • Judged by the Investigator to be in generally good health at Screening based upon the results of a medical history, physical examination, and clinical laboratory test results.
  • Participants must have a diagnosis of 22qDS confirmed by genetic testing.
  • Participants have a Clinical Global Impression-Severity (CGI-S) score of 4 or higher at Screening and Visit 2.
  • Participants must have a Pediatric Anxiety Rating Scale-Revised (PARS-R) severity score of 10 or higher at Screening and Visit 2.
  • Participants with a history of seizure disorders must currently be receiving treatment with a stable regimen of one or two AEDs, or must be seizure-free for one year if not currently receiving AEDs.
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  • If participants are receiving non-pharmacological behavioral and/or dietary interventions, they must be stable for three months prior to Screening.
  • The participant has demonstrated stable calcium levels for one year prior to Screening.
  • Participants have a body mass index between 12-35 kg / m² (inclusive).
  • Females of childbearing potential must have a negative pregnancy test at the Screening Visit and a negative pregnancy test at all designated study visits.
  • Participants and parents/caregivers agree to abide by all study restrictions and comply with all study procedures.
  • Participants and parents/caregivers must be adequately informed of the nature and risks of the study and give written informed consent (and assent if applicable) prior to Screening.
  • Parents/caregiver(s) must provide written consent to assist in study drug administration.
  • In the Investigator's opinion, participants and parents/caregivers are reliable and willing and able to comply with all protocol requirements and procedures.

Who cannot join

  • Females who are pregnant, nursing, or planning a pregnancy; females of childbearing potential and male participants with a partner of childbearing potential who are unwilling or unable to use an acceptable method of contraception for the duration of therapy and for three months after the last dose of study medication.
  • History of significant allergic condition, significant drug-related hypersensitivity, or allergic reaction to any compound or chemical class related to ZYN002 or its excipients.
  • Exposure to any investigational drug or device ≤ 30 days prior to Screening or at any time during the study.
  • Participant has Alanine transaminase (ALT), Aspartate transaminase (AST), or total bilirubin levels ≥ 2 times the Upper limit of normal (ULN) or has alkaline phosphatase levels ≥ 3 times the ULN as determined from Screening safety laboratories.
  • Use of cannabis or any Δ9-tetrahydrocannabinol (THC) or CBD-containing product within three months of Screening Visit or during the study.
  • The participant has a positive drug screen.
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  • The participant is using the following AEDs: clobazam, phenobarbital, ethosuximide, felbamate, carbamazepine, phenytoin or vigabatrin.
  • Participant is using any strong inhibitor/inducer of CYP3A4 or sensitive substrate for CYP3A4 including but not limited to the following medications: midazolam, oral ketoconazole, fluconazole, nefazadone, rifampin, alfentanil, alfuzosin, amiodarone, cyclosporine, dasatinib, docetaxol, eplerenone, ergotamine, everolimus, fentanyl, halofantrine, irinotecan, lapatinib, levomethadyl, lumefantrine, nilotinib, pimozide, quinidine, ranolazine, sirolimus, tacrolimus, temsirolimus, toremifene, tretinioin, vincristine, vinorelbine, St. John's Wort, and grapefruit juice/products.
  • Participant with diagnosis of known genetic disorder, other than 22qDS.
  • Participant has diagnosis of DiGeorge or Velocardiofacial syndrome without the presence of 22qDS.
  • Participant has a primary psychiatric diagnosis other than 22qDS or anxiety, including bipolar disorder, psychosis, schizophrenia, Post traumatic stress disorder (PTSD) or major depressive disorder.
  • Participant is on stable treatment of >6 months of not more than two psychoactive medications at screening or throughout the study (with the exception of one psychoactive medication prescribed for sleep).
  • Participant has an advanced, severe, or unstable disease that may interfere with the study outcome evaluations.
  • Participant is expected to initiate or change pharmacologic or non-pharmacologic interventions during the course of the study.
  • Participant has an acute or progressive neurological disease, or any psychiatric disorder or severe mental abnormalities that are likely to require changes in drug therapy or interfere with the objectives of the study or ability to adhere to protocol requirements.
  • Participant has a positive result for the presence of Hepatitis B surface antigen (HBsAg), Hepatitis C virus (HCV), or Human immunodeficiency virus (HIV) antibodies.
  • Participants at risk of needing cardiovascular surgical repair within the upcoming 12 months.
  • Participant has unstable cardiovascular disease, such as advanced arteriosclerosis, cardiomyopathy, serious heart rhythm abnormalities, coronary artery disease, cardiac conduction problems, exercise-related cardiac events including syncope and pre-syncope, risk factors for Torsades de pointes (TdP) (e.g., heart failure, hypokalemia, family history of Long QT Syndrome), other serious or other clinically unstable cardiac problems as indicated by history, physical examination, or ECG.
  • Any clinically significant condition or abnormal findings at the Screening Visit that would, in the opinion of the Investigator, preclude study participation or interfere with the evaluation of the study medication.
  • Any skin disease or condition that may affect treatment application, application site assessments, or absorption of the study drug.
  • History of treatment for, or evidence of, drug abuse within the past year.
  • Participant responds "yes" to Question '4' or '5' on the Columbia Suicide Severity Rating Scale Children (C-SSRS) during Screening or at any time on study.

Trial locations and contacts

3 sites in 2 countries.

3 sites in 2 countries

Australia2 sites

  • Lady Cilento Children's Hospital - South Brisbane

    Brisbane, Queensland, 4101

  • Genetics Clinics Australia

    Melbourne, Victoria, 3161

Other trials in Australia

United States1 site

  • Greenwood Genetic Center

    Greenville, South Carolina, 29605

Other trials in United States

About this study

Official title: An Open-Label Tolerability and Efficacy Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome

To evaluate the safety and tolerability of ZYN002 administered as a transdermal gel formulation, for up to 38 weeks, in participants ages 4 to <18 years, in the treatment of 22q.11.2 Deletion syndrome (22qDS).

Read the detailed description

This was an open-label study that assessed the safety, tolerability and efficacy of cannabidiol (CBD) administered as ZYN002, a transdermal gel, for the treatment of child and adolescent participants with 22qDS. Male and female participants with 22qDS were treated in Period 1 for 14 weeks. Participants that met study criteria were allowed to continue to Period 2 for an additional 24 weeks of treatment. At the end of the study, participants taking antiepileptic drug (AED) medication(s) had an additional one- or two-week Taper Period. Approximately 20 male and female participants, ages 4 to < 18 years, received ZYN002.

Being tested
ZYN002
Keywords
22qDS, Chromosome 22q11.2 deletion syndrome, DiGeorge syndrome, Velocardiofacial syndrome, Velo-cardio-facial syndrome (VCFS), CATCH22 syndrome, Conotruncal anomaly face syndrome (CTAF), Shprintzen syndrome, Autosomal dominant Opitz G/BBB syndrome, Cayler cardio facial syndrome
Medical subject headings
DiGeorge Syndrome

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • ZYN002Drug

    Also called Cannabidiol Transdermal Gel

    Synthetic CBD (sCBD) Transdermal Gel pharmaceutically manufactured. sCBD formulated as a clear gel (transdermal delivery). Dose received is based on weight. 1. Participants who weigh ≤ 35 kilogram (kg) will receive 125 mg CBD Q12H (every 12 hours ± 2 hours); for a total daily dose of 250 mg CBD. 2. Participants who weigh > 35 kg will receive 250 mg CBD Q12H (±2 hours) for a total daily dose of 500 mg CBD. Patients in both weight ranges ≤ 35 kg or > 35 kg may receive an increased daily dose of 500 mg sCBDor 750 mg sCBD, respectively.

Study groups in NCT05149898
Study groupRoleWhat they receive
Open-labelExperimentalOpen-label
Receives: Drug: ZYN002

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Overall Number of Participants With Treatment-Emergent Adverse Events (TEAEs) and Treatment-Emergent Serious Adverse Events (SAEs)

    An adverse event (AE) is an undesirable medical occurrence or worsening of a pre-existing medical condition that occurs at any time after signing of the informed consent form whether or not it is considered to be related to treatment. Any AE that results in one or more of the following is considered a SAE: death, life threatening, in-patient hospitalization, persistent or significant disability/incapacity, congenital abnormality or birth defect, and other medically important events. TEAEs are defined as AEs with onset dates on or after the start of study drug. Adverse event data were collected as a single arm because, based on pharmacokinetics modeling, exposure is consistent between doses.

    Measured: From first dose of study drug administration (Day 1) up to end of the study, approximately 306 days

Secondary outcomes (7)

  1. Change From Baseline in Aberrant Behavior Checklist - Community (ABC-C) at Week 14 (Period 1) and Week 38 (Period 2)

    The Aberrant Behavior Checklist - Community (ABC-C) instrument is a scale for rating inappropriate and maladaptive behavior of participants with developmental disabilities, including intellectual disability and autism spectrum disorder. The ABC-C was completed by the parent/caregiver with support from the site staff. The ABC-C asks responders to rate behaviors from "0= not at all a problem" to "3= the problem is severe in degree" across 58 questions. The ABC-C consists of 5 subscales: hyperactivity noncompliance subscale (scale range from 0 to 48), irritability subscale (scale range from 0 to 45), inappropriate speech subscale (scale range from 0 to 12), stereotypic behavior subscale (scale range from 0 to 21) and social withdrawal subscale (scale range from 0 to 48). Total scores range from 0 (not at all a problem) to 174 (the problem is severe in degree). Higher scores indicate higher severity. Baseline was defined as the last assessment prior to the first dose of ZYN002.

    Measured: Period 1: Baseline (Day 1) and Week 14 (Day 98 ± 3 days); Period 2: Week 14 (Day 98 ± 3 days) and Week 38 (Day 266 ± 3 days).

  2. Change From Baseline in Anxiety, Depression and Mood Scale (ADAMS) at Week 14 (Period 1) and Week 38 (Period 2)

    The Anxiety, Depression and Mood Scale (ADAMS) was completed by the parent/caregiver with support from the site staff. The ADAMS is comprised of 28 items (question 3 is counted in two subscales), which are rated on a scale of "0=not a problem" to "3=severe problem". The ADAMS consists of 5 subscales: depressed mood subscale (scale range from 0 to 21), general anxiety subscale (scale range from 0 to 21), manic/hyperactive behavior subscale (scale range from 0 to 15), obsessive/compulsive behavior subscale (scale range from 0 to 9) and social avoidance subscale (scale range from 0 to 21). Total score range is 0 to 84. Higher scores indicate higher severity/worse outcome. Baseline was defined as the last assessment prior to the first dose of ZYN002.

    Measured: Period 1: Baseline (Day 1) and Week 14 (Day 98 ± 3 days); Period 2: Week 14 (Day 98 ± 3 days) and Week 38 (Day 266 ± 3 days).Period 2: Baseline (Day 1 of

  3. Change From Baseline in Clinical Global Impression-Severity (CGI-S) at Week 14 (Period 1) and Week 38 (Period 2)

    The Clinical Global Impression-Severity (CGI-S) is a 7-point scale that requires the clinician to rate the severity of the participant's illness at the time of assessment relative to the clinician's past experience with participants who have the same diagnosis. Considering total clinical experience, a participant was assessed on severity of mental illness at the time of rating as follows: 1= normal, not at all ill; 2= borderline mentally ill; 3= mildly ill; 4= moderately ill; 5= markedly ill; 6= severely ill; or 7= extremely ill. The CGI-S score range from 0 (not a problem) to 7 (severe problem). Higher scores indicate higher severity. Baseline was defined as the last assessment prior to the first dose of ZYN002.

    Measured: Period 1: Baseline (Day 1) and Week 14 (Day 98 ± 3 days); Period 2: Week 14 (Day 98 ± 3 days) and Week 38 (Day 266 ± 3 days).

  4. Number of Participants With Clinical Global Impression-Improvement (CGI-I) at Week 14 (Period 1) and Week 38 (Period 2)

    The CGI-I is a 7-point scale that requires the clinician to assess how much the participant's illness has improved or worsened relative to a baseline state at the beginning of the intervention and rated as: 1= very much improved; 2= much improved; 3= minimally improved; 4= no change; 5= minimally worse; 6= much worse; or 7= very much worse. Baseline was defined as the last assessment prior to the first dose of ZYN002. Higher scores indicate worse outcome.

    Measured: Period 1: Week 14 (Day 98 ± 3 days); Period 2: Week 38 (Day 266 ± 3 days).

  5. Number of Participants With Changes in Caregiver Reported Behavioral Problems at Week 14 (Period 1) and Week 38 (Period 2)

    The parent/caregiver was asked the following question "What are the three behavioral, emotional, or social problems that most impacted your son/daughter and his/her family in approximately the past year?". At each study visit the parent/caregiver was reminded of their responses from the screening visit in order to rate the 3 questions for improvement or worsening.

    Measured: Period 1: Week 14 (Day 98 ± 3 days); Period 2: Week 38 (Day 266 ± 3 days).

  6. Change From Baseline in Pediatric Anxiety Rating Scale-Revised (PARS-R) Total Severity Score at Week 14 (Period 1) and Week 38 (Period 2)

    The Pediatric Anxiety Rating Scale-Revised (PARS-R) is a clinician-rated caregiver interview that covers 61 behaviors related to anxiety. The interviewer assesses 7 items: overall severity of anxiety feelings; overall number, frequency, and severity of anxiety symptoms; overall severity of anxiety (physical symptoms); overall avoidance of anxiety-provoking situations; and anxiety interference with family and peer relationships and/or performance at home or outside of the home. Each of the 7 severity items was scored on a scale of 1 to 5, with 5 being the most severe and frequent. The total score for the PARS-R is the sum of the 7 items; range from 0 (not a problem) to 35 (severe problem). Higher scores indicate higher severity. Baseline was defined as the last assessment prior to the first dose.

    Measured: Period 1: Baseline (Day 1) and Week 14 (Day 98 ± 3 days); Period 2: Week 14 (Day 98 ± 3 days) and Week 38 (Day 266 ± 3 days).

  7. Plasma Concentrations of Cannabidiol and Δ9-tetrahydrocannabinol

    Blood samples were collected to determine the plasma concentrations of cannabidiol and Δ9-tetrahydrocannabinol.

    Measured: Week 14 (Day 98 ± 3 days) and Week 38 (Day 266 ± 3 days).

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted8 Dec 2021
  2. Study start19 Feb 2020
  3. Primary completion9 Nov 2022
  4. Study completion9 Nov 2022

Resources

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
Model description
Open-label study
Masking
None (open label)
Enrolment
20 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05149898
Sponsor's protocol ID
ZYN2-CL-031
Acronym
INSPIRE
Status last verified
Feb 2026
First submitted
5 Oct 2021
Last updated
9 Mar 2026
FDA-regulated drug
Yes
FDA-regulated device
No
Individual data sharing
No: There is no plan to make individual participant data available to other researchers.

Publications

  • Heussler H, Cohen J, Buchanan CB, Albers DS, Bzdek KG. Phase 2, open-label INSPIRE trial to assess the tolerability and effectiveness of transdermal cannabidiol gel in children and adolescents with 22q11.2 deletion syndrome (ZYN2-CL-031). J Neurodev Disord. 2026 Mar 26;18(1):22. doi: 10.1186/s11689-026-09687-z.

    PubMed 41888667

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing ZYN002 in people with 22Q11.2 Deletion Syndrome, run by Harmony Biosciences Management, Inc. at 3 sites in 2 countries.

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 14 inclusion and 22 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: finished, as of the sponsor's last update on 9 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 3 sites in Australia, 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?

Yes. Results are posted in the registry (first posted 9 Mar 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

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?

Overall Number of Participants With Treatment-Emergent Adverse Events (TEAEs) and Treatment-Emergent Serious Adverse Events (SAEs) (time frame: From first dose of study drug administration (Day 1) up to end of the study, approximately 306 days). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05149898, which also lists 1 linked publication.

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 9 Mar 2026.

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