Trial Outcomes & Findings for AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy (NCT NCT03493607)

NCT ID: NCT03493607

Last Updated: 2025-06-27

Results Overview

An adverse event is defined as any untoward medical occurrence in a study subject, temporally associated with the use of the experimental medication, whether or not considered related to the medication. An adverse event can therefore be any unfavorable and unintended sign, symptom, or disease temporally associated with the use of the experimental medication. Adverse events will be monitored throughout all 8 weeks of study participation.

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

6 participants

Primary outcome timeframe

8 weeks

Results posted on

2025-06-27

Participant Flow

Recruitment began in Feb 2017, with first enrollment in May of 2018. Study was opened for enrollment through Jan 2021 when decision was made to close study due to low enrollment. Participants completed study visits. Last participant seen March 2020.

Participant milestones

Participant milestones
Measure
AMO-01
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Overall Study
STARTED
6
Overall Study
COMPLETED
6
Overall Study
NOT COMPLETED
0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
AMO-01
n=6 Participants
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Age, Continuous
20.6 years
STANDARD_DEVIATION 2.07 • n=5 Participants
Sex: Female, Male
Female
3 Participants
n=5 Participants
Sex: Female, Male
Male
3 Participants
n=5 Participants
Ethnicity (NIH/OMB)
Hispanic or Latino
0 Participants
n=5 Participants
Ethnicity (NIH/OMB)
Not Hispanic or Latino
6 Participants
n=5 Participants
Ethnicity (NIH/OMB)
Unknown or Not Reported
0 Participants
n=5 Participants
Race (NIH/OMB)
American Indian or Alaska Native
0 Participants
n=5 Participants
Race (NIH/OMB)
Asian
0 Participants
n=5 Participants
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
0 Participants
n=5 Participants
Race (NIH/OMB)
Black or African American
0 Participants
n=5 Participants
Race (NIH/OMB)
White
6 Participants
n=5 Participants
Race (NIH/OMB)
More than one race
0 Participants
n=5 Participants
Race (NIH/OMB)
Unknown or Not Reported
0 Participants
n=5 Participants

PRIMARY outcome

Timeframe: 8 weeks

An adverse event is defined as any untoward medical occurrence in a study subject, temporally associated with the use of the experimental medication, whether or not considered related to the medication. An adverse event can therefore be any unfavorable and unintended sign, symptom, or disease temporally associated with the use of the experimental medication. Adverse events will be monitored throughout all 8 weeks of study participation.

Outcome measures

Outcome measures
Measure
AMO-01
n=6 Participants
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Participants With Phelan-McDermid Syndrome (PMS) at Week 1
Participants with Phelan-McDermid syndrome (PMS) at week 1
Participants With Phelan-McDermid Syndrome (PMS) at Week 2
Participants with Phelan-McDermid syndrome (PMS) at week 2
Participants With Phelan-McDermid Syndrome (PMS) at Week 4
Participants with Phelan-McDermid syndrome (PMS) at week 4
Number of Adverse Events
19 events

SECONDARY outcome

Timeframe: 4 weeks

Seizure frequency was measured by a caregiver-completed seizure diary throughout the duration of the trial. A seizure diary was provided to each family at the screening visit to record each seizure event, its date/time, duration, and type. The study team reviewed the diary at each visit with the caregiver and weekly seizure frequency was calculated. The week 1 seizure count was the number of seizures in the 7 days following the infusion day. Similarly, the week 2 seizure count was the number of seizures in the 7 days between weeks 1 and 2. Lastly, the week 4 seizure count was the sum of seizures in the 14 days between weeks 2 and 4, divided by 2.

Outcome measures

Outcome measures
Measure
AMO-01
n=6 Participants
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Participants With Phelan-McDermid Syndrome (PMS) at Week 1
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 1
Participants With Phelan-McDermid Syndrome (PMS) at Week 2
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 2
Participants With Phelan-McDermid Syndrome (PMS) at Week 4
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 4
Number of Weekly Seizure Counts
22.6 seizure event
Standard Deviation 42.9
4.3 seizure event
Standard Deviation 7.8
15.8 seizure event
Standard Deviation 37.3
14.3 seizure event
Standard Deviation 33.2

SECONDARY outcome

Timeframe: baseline, Week 1, Week 2, and Week 4

Clinical Global Impressions (CGI) Rating Scales are commonly used to measure symptom severity and global improvement in treatment studies of patients with developmental disorders. There Severity Scale (CGI-S) is a 7-point scale (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.) that requires the clinician to rate the severity of illness at the time of assessment. The Improvement Scale (CGI-I) is a 7-point scale (1, very much improved; 2, much improved; 3, minimally improved; 4, no change; 5, minimally worse; 6, much worse; or 7, very much worse.) that requires the clinician to assess how much the illness has improved or worsened relative to baseline.

Outcome measures

Outcome measures
Measure
AMO-01
n=6 Participants
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Participants With Phelan-McDermid Syndrome (PMS) at Week 1
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 1
Participants With Phelan-McDermid Syndrome (PMS) at Week 2
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 2
Participants With Phelan-McDermid Syndrome (PMS) at Week 4
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 4
Change in CGI - Improvement and Severity Scale
Improvement
0 score on a scale
Standard Deviation 0
0.83 score on a scale
Standard Deviation 0.98
1 score on a scale
Standard Deviation 1.1
1 score on a scale
Standard Deviation 0.89
Change in CGI - Improvement and Severity Scale
Severity
5.33 score on a scale
Standard Deviation 0.82
5.33 score on a scale
Standard Deviation 0.82
5.33 score on a scale
Standard Deviation 0.82
5.17 score on a scale
Standard Deviation 0.75

SECONDARY outcome

Timeframe: 8 weeks

9 item visual analogue scale completed by the clinician that scores the severity of concerns in domains that are clinically relevant in PMS. For each subject, the clinician is instructed to identify the top 4 or 5 that are of particular concern and that the clinician would most like to see change during the course of treatment with the study medication. The severity of the clinician's concern in each domain is scored by using a 10 cm visual analogue scale, with anchors of 0 "not at all severe" at the left and 100 "very severe" at the right end.

Outcome measures

Outcome measures
Measure
AMO-01
n=6 Participants
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Participants With Phelan-McDermid Syndrome (PMS) at Week 1
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 1
Participants With Phelan-McDermid Syndrome (PMS) at Week 2
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 2
Participants With Phelan-McDermid Syndrome (PMS) at Week 4
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 4
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Speech
86.83 score on a scale
Standard Deviation 8.13
84.33 score on a scale
Standard Deviation 5.89
84.17 score on a scale
Standard Deviation 5.85
81.67 score on a scale
Standard Deviation 6.06
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Thinking and Learning
86.67 score on a scale
Standard Deviation 6.83
77.5 score on a scale
Standard Deviation 9.87
81.67 score on a scale
Standard Deviation 6.83
78.33 score on a scale
Standard Deviation 2.58
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Seizures
62 score on a scale
Standard Deviation 28.43
41.67 score on a scale
Standard Deviation 30.11
47.5 score on a scale
Standard Deviation 34.31
44.17 score on a scale
Standard Deviation 36.66
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Gross Motor
28.33 score on a scale
Standard Deviation 28.23
26.67 score on a scale
Standard Deviation 24.01
24.17 score on a scale
Standard Deviation 22.45
25 score on a scale
Standard Deviation 23.45
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Repetitive Behavior
70.33 score on a scale
Standard Deviation 21.97
65 score on a scale
Standard Deviation 24.08
60.83 score on a scale
Standard Deviation 24.17
54 score on a scale
Standard Deviation 25.77
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Social Communication
80.83 score on a scale
Standard Deviation 8.61
77.5 score on a scale
Standard Deviation 5.24
77.5 score on a scale
Standard Deviation 6.89
74.17 score on a scale
Standard Deviation 4.92
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Sensory
50.83 score on a scale
Standard Deviation 21.78
48.33 score on a scale
Standard Deviation 20.17
52.5 score on a scale
Standard Deviation 22.97
50.33 score on a scale
Standard Deviation 22.82
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Activities of Daily Living
78.33 score on a scale
Standard Deviation 10.33
75 score on a scale
Standard Deviation 10.95
76.5 score on a scale
Standard Deviation 10.75
78.33 score on a scale
Standard Deviation 8.76
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Sleep
43.33 score on a scale
Standard Deviation 19.66
29.17 score on a scale
Standard Deviation 17.15
43.33 score on a scale
Standard Deviation 24.43
45 score on a scale
Standard Deviation 30.66

SECONDARY outcome

Timeframe: baseline, Week 1, Week 2, and Week 4

rating scaled used to monitor an array of behavioral features among patients with intellectual disabilities. It takes 15-30 minutes to complete. 16 items, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). with total from 0 to 48.

Outcome measures

Outcome measures
Measure
AMO-01
n=6 Participants
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Participants With Phelan-McDermid Syndrome (PMS) at Week 1
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 1
Participants With Phelan-McDermid Syndrome (PMS) at Week 2
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 2
Participants With Phelan-McDermid Syndrome (PMS) at Week 4
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 4
Aberrant Behavior Checklist (ABC)
Irritability
8.67 score on a scale
Standard Deviation 6.02
9.33 score on a scale
Standard Deviation 7.89
6.67 score on a scale
Standard Deviation 3.72
4.83 score on a scale
Standard Deviation 3.19
Aberrant Behavior Checklist (ABC)
Lethargy
15 score on a scale
Standard Deviation 7.13
12 score on a scale
Standard Deviation 7.9
9.83 score on a scale
Standard Deviation 6.01
8.83 score on a scale
Standard Deviation 4.96
Aberrant Behavior Checklist (ABC)
Stereotypy
6.67 score on a scale
Standard Deviation 6.09
4.83 score on a scale
Standard Deviation 5.08
4.17 score on a scale
Standard Deviation 3.76
3.17 score on a scale
Standard Deviation 2.93
Aberrant Behavior Checklist (ABC)
Hyperactivity
20.33 score on a scale
Standard Deviation 11.34
14.33 score on a scale
Standard Deviation 7.79
15.67 score on a scale
Standard Deviation 9.09
13.83 score on a scale
Standard Deviation 6.27
Aberrant Behavior Checklist (ABC)
Inappropriate Speech
1.17 score on a scale
Standard Deviation 2.4
1.17 score on a scale
Standard Deviation 2.4
0.17 score on a scale
Standard Deviation 0.41
0 score on a scale
Standard Deviation 0

SECONDARY outcome

Timeframe: Baseline, Week 1, Week 2, Week 4

Population: Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.

42-item rating scale that is completed by a parent or caregiver. It reports on the severity of repetitive behaviors. each item scored on 4-point scale: 0-Behavior does not occur, 1-Behavior occurs and is a mild problem, 2-Behavior occurs and is a moderate problem, 3-Behavior occurs and is a severe problem. with total score from 0 (mild) to 126 (severe). Subscale ranges: stereotypic behavior (0 - 27);self-injurious behavior (0 - 24); compulsive behavior (0 - 18); ritualistic/Sameness Behavior (0 - 36); restricted Interests (0 - 9). Higher score in all subscales reflect increasing severity.

Outcome measures

Outcome measures
Measure
AMO-01
n=6 Participants
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Participants With Phelan-McDermid Syndrome (PMS) at Week 1
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 1
Participants With Phelan-McDermid Syndrome (PMS) at Week 2
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 2
Participants With Phelan-McDermid Syndrome (PMS) at Week 4
n=6 Participants
Participants with Phelan-McDermid syndrome (PMS) at week 4
Repetitive Behavior Scale-Revised (RBS-R)
Sameness Behavior
2 score on a scale
Standard Deviation 2.68
1.33 score on a scale
Standard Deviation 1.75
2 score on a scale
Standard Deviation 2.76
2.33 score on a scale
Standard Deviation 2.66
Repetitive Behavior Scale-Revised (RBS-R)
Restricted Behavior
1.83 score on a scale
Standard Deviation 2.4
1.83 score on a scale
Standard Deviation 2.04
1.67 score on a scale
Standard Deviation 1.97
1.83 score on a scale
Standard Deviation 2.56
Repetitive Behavior Scale-Revised (RBS-R)
Stereotyped Behavior
3.67 score on a scale
Standard Deviation 3.5
3 score on a scale
Standard Deviation 2.68
3.5 score on a scale
Standard Deviation 2.07
2.67 score on a scale
Standard Deviation 2.42
Repetitive Behavior Scale-Revised (RBS-R)
Self-Injury
1.83 score on a scale
Standard Deviation 1.94
1.33 score on a scale
Standard Deviation 1.51
2 score on a scale
Standard Deviation 2.45
1.5 score on a scale
Standard Deviation 2.35
Repetitive Behavior Scale-Revised (RBS-R)
Compulsive Behavior
2.5 score on a scale
Standard Deviation 3.27
1.17 score on a scale
Standard Deviation 1.47
2 score on a scale
Standard Deviation 2.76
2.5 score on a scale
Standard Deviation 2.81
Repetitive Behavior Scale-Revised (RBS-R)
Ritualistic Behavior
0 score on a scale
Standard Deviation 0
0.17 score on a scale
Standard Deviation 0.41
0.17 score on a scale
Standard Deviation 0.41
0 score on a scale
Standard Deviation 0
Repetitive Behavior Scale-Revised (RBS-R)
Total
11.83 score on a scale
Standard Deviation 9.26
8.83 score on a scale
Standard Deviation 5.56
11.33 score on a scale
Standard Deviation 10.48
10.83 score on a scale
Standard Deviation 10.87

Adverse Events

AMO-01

Serious events: 0 serious events
Other events: 4 other events
Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure
AMO-01
n=6 participants at risk
Subjects received a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
Gastrointestinal disorders
Constipation
16.7%
1/6 • 8 weeks
General disorders
Sleep Issues
16.7%
1/6 • 8 weeks
Respiratory, thoracic and mediastinal disorders
Congestion/Cough
16.7%
1/6 • 8 weeks
General disorders
Headache
16.7%
1/6 • 8 weeks
Skin and subcutaneous tissue disorders
Cellulitis
16.7%
1/6 • 8 weeks
Skin and subcutaneous tissue disorders
Redness on hands
16.7%
1/6 • 8 weeks
Metabolism and nutrition disorders
Decreased appetite/weight loss
16.7%
1/6 • 8 weeks
Infections and infestations
Viral Infection
16.7%
1/6 • 8 weeks
Skin and subcutaneous tissue disorders
Rash on nect
16.7%
1/6 • 8 weeks
Ear and labyrinth disorders
Ear Infection
16.7%
1/6 • 8 weeks
Nervous system disorders
Mouth movement, possible tic
16.7%
1/6 • 8 weeks
Metabolism and nutrition disorders
Increased appetite
33.3%
2/6 • 8 weeks
Psychiatric disorders
Increased rubbing/repetitive behaviors
16.7%
1/6 • 8 weeks
Nervous system disorders
Seizure
33.3%
2/6 • 8 weeks
Injury, poisoning and procedural complications
Drowsiness after infusion
16.7%
1/6 • 8 weeks
Injury, poisoning and procedural complications
Flushing in face and hand
16.7%
1/6 • 8 weeks
Psychiatric disorders
Motor Stereotypes
16.7%
1/6 • 8 weeks

Additional Information

Christina Layton

Icahn School of Medicine at Mount Sinai

Phone: 212-241-6231

Results disclosure agreements

  • Principal investigator is a sponsor employee The Investigators agree not to publish reports, abstracts, or other data compilations concerning the Study before the first multi-site publication by Sponsor. If there is no multi-site publication within 18 months after the Study has been completed or terminated at all Study locations, Principal Investigator shall have the right to publish and or present the results of the Study generated or collected at Study Site(s) (but not the results of any other Study location).
  • Publication restrictions are in place

Restriction type: OTHER