Zatolmilast for PPP2R5D Syndrome

Recruiting at 2 trial locations

Overseen By Shionogi Clinical Trials Administrator Clinical Support Help Line

Age: < 65

Sex: Any

Trial Phase: Phase 2

Sponsor: Shionogi

Disqualifiers: Major psychiatric condition, others

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

30 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

The primary objective of this study is to assess the safety and tolerability of BPN14770 in participants aged 9 to 45 years with JS.

Will I have to stop taking my current medications?

The trial does not specify if you need to stop taking your current medications, but you can be on up to 3 prescribed psychotropic medications.

How does the drug BPN14770 differ from other treatments for PPP2R5D Syndrome?

BPN14770, also known as Zatolmilast, is unique because it targets the underlying molecular mechanisms of PPP2R5D Syndrome by modulating the activity of protein phosphatase 2A (PP2A), which is involved in key neuronal processes. This approach is novel as there are currently no standard treatments specifically addressing the genetic and molecular basis of this condition. ^{1 2 3 4 5}

Are You a Good Fit for This Trial?

This trial is for individuals aged 9 to 45 with Jordan's Syndrome (JS), a neurodevelopmental disorder. It includes those with related conditions like Klinefelter and Triple X Syndromes, but the full eligibility criteria are not provided.

Inclusion Criteria

Participant has a parent, legal authorized guardian or consistent caregiver

I have been diagnosed with PPP2R5D Neurodevelopmental Disorder.

I am currently taking 3 or fewer medications for mental health.

Exclusion Criteria

Clinically significant abnormalities, in the investigator's judgment, in safety laboratory tests, vital signs, or electrocardiogram (ECG), as measured during Screening

Concurrent major psychiatric condition (e.g., Major Depressive Disorder, Schizophrenia or Bipolar Disorder) as diagnosed by the investigator. Participants with additional diagnosis of Autism Spectrum Disorder or Anxiety Disorder will be allowed

I am starting or have recently started psychotherapy or CBT.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Double-blind Treatment

Participants receive either BPN14770 or placebo BID for 24 weeks

24 weeks

Open-label Extension

Participants receive a weight adjusted dose of BPN14770 BID for 24 weeks

24 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• BPN14770

Trial Overview The study tests Zatolmilast (BPN14770) against a placebo to see if it's safe and tolerable for people with JS. Participants will be randomly assigned to receive either the drug or an inactive substance.

How Is the Trial Designed?

Group I: BPN14770 Experimental Treatment 1 Intervention

Participants will receive a weight adjusted dose of BPN14770 twice daily (BID) during the 24-week Double-blind Period. Participants in the BPN14770 arm who complete the Double-blind Period will have the opportunity to continue in the Open-label Extension Period. Participants will receive a weight adjusted dose of BPN14770 BID during the 24-week Open-label Extension Period.

Group II: Placebo Placebo Group 2 Interventions

Participants will receive BPN14770 matching placebo BID during the 24-week Double-blind Period. Participants in the placebo arm who complete the Double-blind Period will have the opportunity to continue in the Open-label Extension Period. Participants will receive a weight adjusted dose of BPN14770 BID during the 24-week Open-label Extension Period.

Who Is Running the Clinical Trial?

Shionogi

Lead Sponsor

Trials

122

Recruited

42,100+

Dr. Isao Teshirogi

Shionogi

Chief Executive Officer since 2008

PhD in Pharmaceutical Sciences from the University of Tokyo

Dr. Takuko Sawada

Shionogi

Chief Medical Officer since 2022

MD from a recognized institution (specific details not found)

Citations

1. United States pubmed.ncbi.nlm.nih.gov

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care. [2023]

2. England pubmed.ncbi.nlm.nih.gov

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. [2023]

3. United States pubmed.ncbi.nlm.nih.gov

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. [2018]

4. United States pubmed.ncbi.nlm.nih.gov

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. [2023]

5. Switzerland pubmed.ncbi.nlm.nih.gov

Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy. [2022]