Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions

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.

Study Overview

• Status: Completed
• Conditions: 22q11.2 Deletion Syndrome
• Intervention / Treatment: Drug: NFC-1

• Study Type: Interventional
• Enrollment (Actual): 2
• Phase: Phase 1

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 12 years to 17 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• 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.

Exclusion Criteria:

• 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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: NFC-1; Doses of NFC-1 will be administered as 50, 100, 200, or 400 mg twice daily as capsules for oral administration.	Drug: NFC-1; 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.; Other Names: NFC1

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Time to symptom relapse	Through study completion, up to 5 weeks

Secondary Outcome Measures

Outcome Measure	Time Frame
Response to treatment based on Clinical Global Impression - Improvement scale	Through study completion, up to 5 weeks
Safety and tolerability as determined by AEs, laboratory results, C-SSRS, and K-SADS	Through study completion, up to 5 weeks

Collaborators and Investigators

• Sponsor: Aevi Genomic Medicine, LLC, a Cerecor company

Publications and helpful links

General Publications

• Slaby 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.

Study record dates

Study Major Dates

• Study Start (Actual): November 28, 2016
• Primary Completion (Actual): April 13, 2017
• Study Completion (Actual): April 20, 2017

Study Registration Dates

• First Submitted: August 29, 2016
• First Submitted That Met QC Criteria: September 6, 2016
• First Posted (Estimate): September 12, 2016

Study Record Updates

• Last Update Posted (Actual): March 25, 2022
• Last Update Submitted That Met QC Criteria: March 24, 2022
• Last Verified: March 1, 2022

More Information

Terms related to this study

• Keywords: 22q11.2 DS
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Lymphatic Diseases; Endocrine System Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Parathyroid Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Abnormalities, Multiple; Chromosome Disorders; 22q11 Deletion Syndrome; Lymphatic Abnormalities; Hypoparathyroidism; Syndrome; DiGeorge Syndrome
• Other Study ID Numbers: MDGN-NFC1-22Q-101

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided