What is the mechanism of action of this treatment?

The most common treatments for Phelan-McDermid Syndrome (PMS) focus on addressing developmental delays and intellectual disabilities. NNZ-2591, currently under study, is believed to modulate neuroplasticity and synaptic function, which are crucial for cognitive development and learning. This is particularly important for PMS patients, who often suffer from significant developmental and intellectual challenges. By enhancing synaptic connectivity and neuroplasticity, treatments like NNZ-2591 aim to improve cognitive functions and overall quality of life for individuals with PMS.

What side effects are associated with this type of intervention?

Common treatments for Phelan-McDermid Syndrome, which aim to address developmental delays and intellectual disabilities, often include pharmacological interventions and developmental support therapies. Pharmacological treatments can sometimes lead to side effects such as gastrointestinal disturbances, sleep issues, and behavioral changes. Developmental support therapies, while generally safe, may occasionally cause mild stress or fatigue in patients due to the intensity of the interventions. Specific side effects of NNZ-2591 are not detailed, but similar treatments typically focus on ensuring safety and tolerability in pediatric populations.

What prior FDA approvals exist?

Currently, there are no FDA-approved treatments specifically for Phelan-McDermid Syndrome (PMS). NNZ-2591 is being studied for its potential therapeutic effects on developmental delays and intellectual disabilities associated with PMS. Treatments for similar symptoms in other conditions often include behavioral interventions and medications targeting specific symptoms such as hyperactivity, irritability, and attention deficits. These medications may include stimulants, antipsychotics, and other psychotropic drugs, but none are specifically approved for PMS.

What other types of research exist?

Promising novel alternatives to NNZ-2591 for Phelan-McDermid Syndrome patients may include gene therapy approaches, such as postnatal soluble FGFR3 therapy, which has shown potential in rescuing symptoms and restoring bone growth in genetic disorders. Additionally, therapies targeting the C-type natriuretic peptide (CNP) pathway, like vosoritide, could be considered due to their role in regulating endochondral ossification and potential benefits in developmental disorders.

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Oral NNZ-2591 for Phelan-McDermid Syndrome (PMS-001 Trial)

Phase 2

Waitlist Available

Research Sponsored by Neuren Pharmaceuticals Limited

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Be younger than 18 years old

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 13 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing a liquid medicine called NNZ-2591 in children and adolescents with Phelan-McDermid Syndrome. The study will check if the medicine is safe, how well it is tolerated, and if it helps with their symptoms. Participants will take the medicine for several weeks.

Who is the study for?

This trial is for children aged 3-12 with Phelan-McDermid Syndrome, weighing at least 12 kg, and not currently losing developmental skills. They must have a SHANK3 genetic abnormality and be able to swallow liquid medication. Exclusions include unstable seizures, certain health conditions like heart or kidney problems, recent severe COVID-19 requiring hospitalization, and changes in psychotropic treatment within the last two weeks.

What is being tested?

The study tests NNZ-2591's safety, how well it's tolerated by the body (tolerability), its movement through the body (pharmacokinetics), and effectiveness in treating symptoms of Phelan-McDermid Syndrome in children and adolescents.

What are the potential side effects?

While specific side effects are not listed here, common concerns may include reactions related to drug tolerance such as digestive issues, allergic reactions (note allergy exclusion for strawberry), or impacts on mood or behavior given the population being studied.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 13 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~13 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and 13 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Pharmacokinetic - Typical AUC24 of 30 kg Child

Pharmacokinetic - Typical t1/2 in 30 kg Child

Safety and Tolerability

Secondary study objectives

ABC-2

Behavior Problems Inventory - Short Form

CGI-I

+11 more

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: NNZ-2591Experimental Treatment1 Intervention

NNZ-2591 oral solution (50mg/mL) to be administered twice daily dose for 13 weeks.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

NNZ-2591

2020

Completed Phase 2

~80

Do I qualify?Apply below to find out

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

The most common treatments for Phelan-McDermid Syndrome (PMS) focus on addressing developmental delays and intellectual disabilities. NNZ-2591, currently under study, is believed to modulate neuroplasticity and synaptic function, which are crucial for cognitive development and learning. This is particularly important for PMS patients, who often suffer from significant developmental and intellectual challenges. By enhancing synaptic connectivity and neuroplasticity, treatments like NNZ-2591 aim to improve cognitive functions and overall quality of life for individuals with PMS.