22q11.2 Deletion SyndromePhase 1NCT02895906
Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
A Phase 1 study testing NFC-1 in people with 22q11.2 Deletion Syndrome, run by Aevi Genomic Medicine, LLC, a Cerecor company at 1 site in United States.
Trial summary
This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD. Approximately 12 subjects will be initiated, dose optimized, and maintained on NFC-1 over a period of 5 weeks. Read more about this study
- Who is it for?
- Ages 12 to 17 years
- Conditions the study is for
- 22q11.2 Deletion Syndrome
- What is being tested?
- NFC-1
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Nov 2016to 20 Apr 2017
- Phase
- Phase 1
- 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 12 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Subject has a diagnosis of a 22q11.2 deletion prior to screening.
- Subject has a diagnosis of anxiety disorder and/or ADHD and/or ASD based upon diagnostic evaluations performed at screening, history, and clinical judgement.
- Subject is judged to be in general good health, other than having anxiety disorder and/or ADHD and/or ASD and 22q11DS. Medical conditions related to 22q11DS must be clinically stable post surgical correction and/or medical management.
- Subject has no clinically significant abnormality on 12-lead electrocardiogram (ECG) performed at screening or baseline such as serious arrhythmia, bradycardia, tachycardia, cardiac conduction problems, or other abnormalities deemed to be a potential safety issue.
- Subject and parent/legal guardian understand the study procedures and agree to the subject's participation in the study as indicated by parental/legal guardian signature on the subject informed consent form and subject's signature on the assent form.
Who cannot join
- Subject has a diagnosis of co-morbid major psychiatric disorders (ie, aside from anxiety disorder, ADHD, and/or ASD), including major depression, bipolar disease, schizophrenia (or any psychotic disorder), and moderate or severe intellectual disability, which in the opinion of the investigator may interfere with the conduct of study evaluations.
- Subject has an IQ < 65 as determined by the Wechsler Abbreviated Scale of Intelligence.
- Subject has a history of any illness that, in the opinion of the study investigator, might confound the results of the study or pose an additional risk to the subject by his/her participation in the study.
- Subject has a history of clinically significant endocrine, gastrointestinal, cardiovascular, hematological, hepatic, immunological, renal, respiratory, or genitourinary abnormalities or disease which is not currently stable clinically. Subjects with a history of uncomplicated kidney stones may be enrolled in the study at the discretion of the investigator.
- Subject has a history of stroke, chronic seizures, or other major neurological disorder which, in the opinion of the investigator, would interfere with the subject's ability to participate and/or be evaluated in the trial.
- Subject is currently considered at risk for suicide (in the opinion of the investigator), has previously made a suicide attempt, or is currently demonstrating active suicidal ideation.
- Subject has taken any antidepressants, antipsychotics, anxiolytics, or non-stimulant ADHD medication within 30 days of the Screening Visit.
- Subject is taking a prohibited medication
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
Official title: A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD)
This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD. Approximately 12 subjects will be initiated, dose optimized, and maintained on NFC-1 over a period of 5 weeks.
- Conditions
- 22q11.2 Deletion Syndrome
- Being tested
- NFC-1
- Keywords
- 22q11.2 DS
- Medical subject headings
- DiGeorge Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NFC-1Drug
Also called NFC1
Doses of NFC-1 will be administered as 50, 100, 200, or 400 mg twice daily as size 2, hard gelatin capsules for oral administration.
| Study group | Role | What they receive |
|---|---|---|
| NFC-1 | Experimental | Doses of NFC-1 will be administered as 50, 100, 200, or 400 mg twice daily as capsules for oral administration. Receives: Drug: NFC-1 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Time to symptom relapse
Measured: Through study completion, up to 5 weeks
Secondary outcomes (2)
Response to treatment based on Clinical Global Impression - Improvement scale
Measured: Through study completion, up to 5 weeks
Safety and tolerability as determined by AEs, laboratory results, C-SSRS, and K-SADS
Measured: Through study completion, up to 5 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2016 (estimated)
- Study start28 Nov 2016
- Primary completion13 Apr 2017
- Study completion20 Apr 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for 22q11.2 Deletion 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
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02895906
- Sponsor's protocol ID
- MDGN-NFC1-22Q-101
- Status last verified
- Mar 2022
- First submitted
- 29 Aug 2016
- Last updated
- 25 Mar 2022
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Undecided
Publications
Glessner JT, Khan ME, Chang X, Liu Y, Otieno FG, Lemma M, Slaby I, Hain H, Mentch F, Li J, Kao C, Sleiman PMA, March ME, Connolly J, Hakonarson H. Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. J Neurodev Disord. 2023 Apr 29;15(1):14. doi: 10.1186/s11689-023-09483-z.
PubMed 37120522Slaby I, Hain HS, Abrams D, Mentch FD, Glessner JT, Sleiman PMA, Hakonarson H. An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities. J Neurodev Disord. 2022 Jun 11;14(1):37. doi: 10.1186/s11689-022-09447-9.
PubMed 35690720
Study at a glance
From the registry record, last updated by the sponsor on 25 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD)
- ClinicalTrials.gov ID
- NCT02895906
- Acronym / sponsor ID
- MDGN-NFC1-22Q-101
- Conditions
- 22q11.2 Deletion Syndrome
- Keywords
- 22q11.2 DS
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 2 participants (actual)
- Lead sponsor
- Aevi Genomic Medicine, LLC, a Cerecor companyIndustry (pharma, biotech, devices)
- Study start
- 28 Nov 2016 (actual)
- Primary completion
- 13 Apr 2017 (actual)
- Study completion
- 20 Apr 2017 (actual)
- First posted
- 12 Sep 2016 (estimated)
- 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 is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD. Approximately 12 subjects will be initiated, dose optimized, and maintained on NFC-1 over a period of 5 weeks.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| NFC-1 | Experimental | Drug: NFC-1Doses of NFC-1 will be administered as 50, 100, 200, or 400 mg twice daily as capsules for oral administration. |
Who may qualify
- Ages
- 12 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Subject has a diagnosis of a 22q11.2 deletion prior to screening.
- Subject has a diagnosis of anxiety disorder and/or ADHD and/or ASD based upon diagnostic evaluations performed at screening, history, and clinical judgement.
- Subject is judged to be in general good health, other than having anxiety disorder and/or ADHD and/or ASD and 22q11DS. Medical conditions related to 22q11DS must be clinically stable post surgical correction and/or medical management.
- Subject has no clinically significant abnormality on 12-lead electrocardiogram (ECG) performed at screening or baseline such as serious arrhythmia, bradycardia, tachycardia, cardiac conduction problems, or other abnormalities deemed to be a potential safety issue.
- Subject and parent/legal guardian understand the study procedures and agree to the subject's participation in the study as indicated by parental/legal guardian signature on the subject informed consent form and subject's signature on the assent form.
Key exclusion criteria (8 listed)
- Subject has a diagnosis of co-morbid major psychiatric disorders (ie, aside from anxiety disorder, ADHD, and/or ASD), including major depression, bipolar disease, schizophrenia (or any psychotic disorder), and moderate or severe intellectual disability, which in the opinion of the investigator may interfere with the conduct of study evaluations.
- Subject has an IQ < 65 as determined by the Wechsler Abbreviated Scale of Intelligence.
- Subject has a history of any illness that, in the opinion of the study investigator, might confound the results of the study or pose an additional risk to the subject by his/her participation in the study.
- Subject has a history of clinically significant endocrine, gastrointestinal, cardiovascular, hematological, hepatic, immunological, renal, respiratory, or genitourinary abnormalities or disease which is not currently stable clinically. Subjects with a history of uncomplicated kidney stones may be enrolled in the study at the discretion of the investigator.
- Subject has a history of stroke, chronic seizures, or other major neurological disorder which, in the opinion of the investigator, would interfere with the subject's ability to participate and/or be evaluated in the trial.
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 |
|---|---|---|
| NFC-1Also: NFC1Doses of NFC-1 will be administered as 50, 100, 200, or 400 mg twice daily as size 2, hard gelatin capsules for oral administration. | Drug | NFC-1 |
Primary outcome
Time to symptom relapse
Time frame: Through study completion, up to 5 weeks
2 secondary outcomes
Response to treatment based on Clinical Global Impression - Improvement scale
Time frame: Through study completion, up to 5 weeks
Safety and tolerability as determined by AEs, laboratory results, C-SSRS, and K-SADS
Time frame: Through study completion, up to 5 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Mar 2022.
- Derived from this study: PubMed 37120522Glessner JT, Khan ME, Chang X, Liu Y, Otieno FG, Lemma M, Slaby I, Hain H, Mentch F, Li J, Kao C, Sleiman PMA, March ME, Connolly J, Hakonarson H. Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. J Neurodev Disord. 2023 Apr 29;15(1):14. doi: 10.1186/s11689-023-09483-z.
- Derived from this study: PubMed 35690720Slaby I, Hain HS, Abrams D, Mentch FD, Glessner JT, Sleiman PMA, Hakonarson H. An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities. J Neurodev Disord. 2022 Jun 11;14(1):37. doi: 10.1186/s11689-022-09447-9.
- Individual participant dataSharing planned: Undecided
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 NFC-1 in people with 22q11.2 Deletion Syndrome, run by Aevi Genomic Medicine, LLC, a Cerecor company 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: finished, as of the sponsor's last update on 25 Mar 2022. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Time to symptom relapse (time frame: Through study completion, up to 5 weeks). 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 NCT02895906, which also lists 2 linked publications.
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 25 Mar 2022.