Clinical Trials in Phelan-McDermid Syndrome
Clinical trials are conducted to test the safety and benefit of a drug for a specific disorder. Clinical trials rely on human volunteers to expand medical knowledge. Some clinical trials are testing newly-developed drugs. Other clinical trials are testing “repurposed drugs,” or drugs that are approved for another condition and are being tested for benefits in Phelan McDermid syndrome.
Below are opportunities for treatment intervention in Phelan-McDermid syndrome.
Click each link below to learn more. Always contact the trial coordinator directly to get answers to your questions about a specific trial, or to enroll.
This clincialtrials.gov page is frequently updated on clinical trials for Phelan-McDermid syndrome.
Which Trials are Enrolling?
Phelan McDermid syndrome Ongoing Clinical Trials
*last updated 5/2/24
Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| Growth Hormone | Icahn School of Medicine at Mount Sinai | 2-12 | 45 | 12 Weeks | United States: NY | Enrolling by Invitation |
Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| Lithium Carbonate | Assistance Publique Hôpitaux de Paris | 7-8 | 22 | 28-30 Weeks | France | Recruiting |
Learn about past trials
These studies are currently closed. This means these phases have ended, and may or may not be continuing based on results. Not all completed trials have published results. Click the link of the drug name to read the results if they are available.
*last updated 4/23/24
Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| NNZ-2951 | Neuren Pharmaceuticals Limited | 3-12 | 20 | 13 Weeks | United States: IL, MA, TX | Recruitment Ended 6/30/23 |
Piloting Treatment with Intranasal Oxytocin in Phelan-McDermid Syndrome
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| Intranasal Oxytocin 2016-2019 | Alexander Kolevzon | 5-17 | 18 | 12 Weeks | United States, NY | Results Published |
AMO-01 to Treat Adolescents and Adults with Phelan-McDermid Syndrome and Co-morbid Epilepsy
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| AMO-01 2018 – 2020 | Alexander Kolevzon | 12-45 | 6 | 8 Weeks | United States, NY, TX | Results Not Published |
Insulin-like growth factor 1 (IGF-1) in Phelan-McDermid Syndrome
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| IGF-1 2012-2016 | Icahn School of Medicine at Mount Sinai | 5-12 | 19 | 28 Weeks | United States, NY | Results Published |
Growth Hormone Treatment in Children with Phelan-McDermid syndrome
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| Recombinant Human Growth Hormone 2019-2020 | Swathi Sethuram | 2-12 | 6 | 12 Weeks | United States, NY | Results Published |
Effectiveness of Recombinant Human Growth Hormone Therapy for Children with Phelan-McDermid Syndrome
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| Recombinant Human Growth Hormone 2020-2021 | Affiliated Hospital of Jiangnan University | 1-5 | 6 | 3 Months | China | Results Not Published |
Intranasal Insulin on Development and Behavior in Phelan-McDermid Syndrome
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| Intranasal Insulin 2013-2015 | The University Medical Centre Groningen | 1-18 | 25 | 24 Months | Netherlands | Results Published |
Q10 Ubiquinol in ASD and in Phelan-McDermid Syndrome (Q10ASD)
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| Coenzyme Q10, Vitamin E, Polyvitamin B 2019-2023 | University of Messina | 2-40 | 35 | 8 Months | Italy | Results Published |
Study to Investigate LP352 in Subjects with Developmental and Epileptic Encephalopathies (PACIFIC)
| Drug | Sponsor | Ages | #Patients | Length | Locations | Satus |
|---|---|---|---|---|---|---|
| LP352, or Bexicaserin | Longboard Pharmaceuticals | 12-65 | 52 | 8 Months | United States; Australia | Results Published |
Phases of Clinical Trials
Phase I
Phase I trials are the first set of studies with human participants, designed to assess the safety and tolerability of a drug. This monitors how a drug interacts with the body and helps to determine the correct dosage.
Phase II
Phase II trials are designed to evaluate drug safety and benefit (efficacy) in people with the disease or condition being studied and determine the potential short-term adverse effects and risks associated with a drug.
Phase III
Phase Ill trials measure drug safety and benefit (efficacy) and monitor for any adverse reactions. These studies are longer in duration and provide most of the safety data needed for regulatory approval.
Phase IV
Phase IV trials are conducted once a drug has been approved by FDA during Post-Market Safety Monitoring and are designed to monitor for any adverse effects over a longer time period.
Why Participate In a Clinical Study?
- Help current and future patients by contributing to research and science
- Advance the understanding of Phelan McDermid syndrome
- Gain access to potential therapies before they become widely available
It is a personal decision on how, when, and why to participate in clinical research. The guide below can help determine which questions you should ask a study coordinator. The perceived benefits and risks of each study will be included in the informed consent document which must be signed before participating in a trial.
The PMSF can help direct you to the information and resources to help you make your decision. If you have questions, contact us.
Understanding Clinical Trials in
Phelan-McDermid Syndrome
Click on the play icon below to view a 2022 video about clinical trials in Phelan-McDermid syndrome.