Phelan-McDermid SyndromePhase 2NCT03493607
AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
A Phase 2 study testing AMO-01 in people with Phelan-McDermid Syndrome and Epilepsy, run by Alexander Kolevzon at 2 sites in United States.
Trial summary
The purpose of this study is to investigate the safety, tolerability and efficacy of a single 6-hour intravenous infusion of AMO-01 to treat adolescents and adults with PMS and co-morbid epilepsy. Read more about this study
- Who is it for?
- Ages 12 to 45 years
- Conditions the study is for
- Phelan-McDermid Syndrome, Epilepsy
- What is being tested?
- AMO-01
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 2 sitesUnited States
- Study dates
- 30 May 2018to 31 Mar 2020
- 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 12 to 45 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Subjects under study must have a diagnosis of Phelan McDermid syndrome (PMS) with genetic confirmation of pathogenic SHANK3 deletion or mutation.
- Subjects must be post pubertal males or females aged ≥12 years and ≤45 years at Screening.
- Subject must have a diagnosis of epilepsy.
- Subjects must have a syndrome-specific Clinical Global Impression- Severity Score of 4 or greater at Screening
- Subject's parent or legally authorized representative (LAR) must provide written informed consent before any study related procedures are conducted. Where a parent or LAR provides consent, there must also be assent from the subject (as required by local regulations).
- Subject's caregiver must be willing and able to support the subject's participation for the duration of the study.
- Subject's caregiver is able and willing to maintain an accurate and complete daily written seizure diary for the entire duration of the study.
Who cannot join
- Receiving medications/therapies not stable (i.e. changed) within 4 weeks prior to Screening. For each enrollee, every effort should be made to maintain stable regimens of allowed concomitant medications and allowed non -medicine based therapies throughout the course of the study, from Screening until the last study assessment.
- Known hypersensitivity to farnesylated dibenzodiazepinone or any of the formulation components.
- Subjects with a history of uncontrolled hypotension or hypertension (Polysorbate 80 is a major constituent of AMO-01 and can cause hypotension).
- Subjects that have received Coumadin or heparin in the 2 weeks preceding Screening.
- Medical illness or other concern which would cause the investigator to conclude that the subject will not be able to perform the study procedures or assessments or would confound interpretation of data obtained during assessments.
- Females who are pregnant, lactating or not willing to use a protocol-defined acceptable contraception method if sexually active and not surgically sterile.
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- Males, engaged in sexual relations with a female of child bearing potential, not using an acceptable contraception method if sexually active and not surgically sterile.
- Clinically significant abnormalities in safety laboratory tests, vital signs or ECG, as measured at Screening (may repeat to confirm).
- Current clinically significant (as determined by the investigator) neurological, cardiovascular, renal, hepatic, endocrine or respiratory disease that may impact the interpretability of the study results.
- Current clinically significant (as determined by the investigator) lymphedema that may compromise venous access and/or may have an adverse impact on study drug distribution and clearance.
- Judged clinically to be at risk of suicide by the investigator.
- Average QTcF value of >450 msec at Screening (may repeat to confirm).
- Subjects in whom an indwelling intravenous line could not be established or maintained.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Texas Children's Hospital
Houston, Texas, 77030
Seaver Autism Center for Research and Treatment at Mount Sinai
New York, New York, 10029
About this study
Official title: An Open-label Study to Investigate the Safety, Tolerability and Efficacy of a Single 6-hour Intravenous Infusion of AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
The purpose of this study is to investigate the safety, tolerability and efficacy of a single 6-hour intravenous infusion of AMO-01 to treat adolescents and adults with PMS and co-morbid epilepsy. Phelan-McDermid Syndrome (PMS) is a neurodevelopmental disorder characterized by a chromosomal deletion or mutation at 22q13.3 that contains the SHANK3/ProSAP2 gene. A key co-morbidity in PMS is the presence of epilepsy. Currently there are no approved treatments for PMS. Furthermore, there has been relatively little clinical study of pharmacological interventions for PMS. AMO-01 may provide benefit to PMS patients exhibiting behavioral abnormalities and seizures.
- Conditions
- Phelan-McDermid Syndrome, Epilepsy
- Being tested
- AMO-01
- Keywords
- AMO-01, Shank3, Clinical Trial
- Medical subject headings
- Telomeric 22q13 Monosomy Syndrome, Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AMO-01Drug
Subjects will receive a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01.
| Study group | Role | What they receive |
|---|---|---|
| AMO-01 | Experimental | Intravenous Infusion Receives: Drug: AMO-01 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Adverse Events
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.
Measured: 8 weeks
Secondary outcomes (5)
Number of Weekly Seizure Counts
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.
Measured: 4 weeks
Change in CGI - Improvement and Severity Scale
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.
Measured: baseline, Week 1, Week 2, and Week 4
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
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.
Measured: 8 weeks
Aberrant Behavior Checklist (ABC)
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.
Measured: baseline, Week 1, Week 2, and Week 4
Repetitive Behavior Scale-Revised (RBS-R)
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.
Measured: Baseline, Week 1, Week 2, Week 4
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2018
- Study start30 May 2018
- Primary completion31 Mar 2020
- Study completion31 Mar 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Phelan-McDermid 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Single Group, open label
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alexander Kolevzon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Alexander Kolevzon, Icahn School of Medicine at Mount Sinai
- Investigators
- Alexander Kolevzon, MD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03493607
- Sponsor's protocol ID
- GCO 17-2226
- Status last verified
- Jun 2025
- First submitted
- 4 Apr 2018
- Last updated
- 27 Jun 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label Study to Investigate the Safety, Tolerability and Efficacy of a Single 6-hour Intravenous Infusion of AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
- ClinicalTrials.gov ID
- NCT03493607
- Acronym / sponsor ID
- GCO 17-2226
- Conditions
- Phelan-McDermid Syndrome, Epilepsy
- Keywords
- AMO-01, Shank3, Clinical Trial
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Alexander KolevzonUniversity, hospital or other
- Study start
- 30 May 2018 (actual)
- Primary completion
- 31 Mar 2020 (actual)
- Study completion
- 31 Mar 2020 (actual)
- First posted
- 10 Apr 2018 (actual)
- Results
- Posted 22 Jun 2021
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to investigate the safety, tolerability and efficacy of a single 6-hour intravenous infusion of AMO-01 to treat adolescents and adults with PMS and co-morbid epilepsy. Phelan-McDermid Syndrome (PMS) is a neurodevelopmental disorder characterized by a chromosomal deletion or mutation at 22q13.3 that contains the SHANK3/ProSAP2 gene. A key co-morbidity in PMS is the presence of epilepsy. Currently there are no approved treatments for PMS. Furthermore, there has been relatively little clinical study of pharmacological interventions for PMS. AMO-01 may provide benefit to PMS patients exhibiting behavioral abnormalities and seizures.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single Group, open label
| Arm | Type | Receives |
|---|---|---|
| AMO-01 | Experimental | Drug: AMO-01Intravenous Infusion |
Who may qualify
- Ages
- 12 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- Subjects under study must have a diagnosis of Phelan McDermid syndrome (PMS) with genetic confirmation of pathogenic SHANK3 deletion or mutation.
- Subjects must be post pubertal males or females aged ≥12 years and ≤45 years at Screening.
- Subject must have a diagnosis of epilepsy.
- Subjects must have a syndrome-specific Clinical Global Impression- Severity Score of 4 or greater at Screening
- Subject's parent or legally authorized representative (LAR) must provide written informed consent before any study related procedures are conducted. Where a parent or LAR provides consent, there must also be assent from the subject (as required by local regulations).
Key exclusion criteria (13 listed)
- Receiving medications/therapies not stable (i.e. changed) within 4 weeks prior to Screening. For each enrollee, every effort should be made to maintain stable regimens of allowed concomitant medications and allowed non -medicine based therapies throughout the course of the study, from Screening until the last study assessment.
- Known hypersensitivity to farnesylated dibenzodiazepinone or any of the formulation components.
- Subjects with a history of uncontrolled hypotension or hypertension (Polysorbate 80 is a major constituent of AMO-01 and can cause hypotension).
- Subjects that have received Coumadin or heparin in the 2 weeks preceding Screening.
- Medical illness or other concern which would cause the investigator to conclude that the subject will not be able to perform the study procedures or assessments or would confound interpretation of data obtained during assessments.
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 |
|---|---|---|
| AMO-01Subjects will receive a single 6-hour intravenous infusion for a total dose administration or 120 mg/m2 of AMO-01. | Drug | AMO-01 |
Primary outcome
Number of Adverse Events
Time frame: 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.
5 secondary outcomes
Number of Weekly Seizure Counts
Time frame: 4 weeks
Change in CGI - Improvement and Severity Scale
Time frame: baseline, Week 1, Week 2, and Week 4
Clinician-completed PMS Domain Specific Causes for Concerns Visual Analogue Scale (VAS)
Time frame: 8 weeks
Aberrant Behavior Checklist (ABC)
Time frame: baseline, Week 1, Week 2, and Week 4
Repetitive Behavior Scale-Revised (RBS-R)
Time frame: Baseline, Week 1, Week 2, Week 4
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jun 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- 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.
Alexander Kolevzon, MD principal investigator
Icahn School of Medicine at Mount Sinai
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing AMO-01 in people with Phelan-McDermid Syndrome and Epilepsy, run by Alexander Kolevzon at 2 sites 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 7 inclusion and 13 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 27 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
Yes. Results are posted in the registry (first posted 22 Jun 2021). 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?
Number of Adverse Events (time frame: 8 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 27 Jun 2025.