Trials Sponsors Conditions Drugs Pricing

Conditions

Phelan McDermid Syndrome

Outcome Measures

Primary Outcomes (7)

Number, frequency and severity of Treatment Emergent Adverse Events (TEAEs), including Adverse Events of Special Interest (AESIs).
Number, frequency and severity of serious TEAEs, including AESIs.
Number and percentage of withdrawn Participants due to TEAEs, including AESIs.
Frequency of clinically relevant abnormalities in physical examination findings, vital signs and ECG parameters.
Frequency of clinical laboratory parameters (haematology and chemistry) of potential clinical concern.
Number and percentage of Participants exhibiting suicidal ideation or behaviours, as evaluated by the Columbia - Suicide Severity Rating Scale (C-SSRS).
Concomitant medication use.

Secondary Outcomes (2)

Change from Baseline (Visit 2) in the: - Aberrant Behaviour Checklist (ABC) Irritability Subscale. - Clinical Global Impression of Severity - Anger and Aggression (CGI-S A/A).
Change from Baseline (Visit 2) in the: - Repetitive Behaviour Scale-Revised (RBS-R). - Phelan-McDermid Syndrome Assessment of Severity (PMSA-S). - ABC Subscales: o Stereotypic Behaviour. o Hyperactivity/Non-compliance. o Inappropriate Speech. o Social Withdrawal.

Interventions

ORY-2001Type not reported

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Eligibility Criteria

Sexall

Age GroupsAdult (18-64)

You may qualify if:

Participants must be 18 to 65 years of age inclusive, at the time of signing the informed consent.
Confirmed clinical diagnosis of PMS, supported by molecular evidence of a pathogenic SHANK3 point mutation or a deletion involving 22q13.3 that includes at least part of the SHANK3 gene. Molecular confirmation may be established using any conventional method, including chromosomal microarray analysis (CMA), chromosome structural tests (fluorescence in situ hybridization [FISH]/karyotype), or sequencing.

Sponsors & Collaborators

Oryzon Genomics S.A.
Industrylead

Study Sites (1)

Hospital General Universitario Gregorio Maranon

Madrid, 28009, Spain

María José Parellada+34915868000 parelladahggm@gmail.com

Central Study Contacts

Director Clinical Operations

+34935151313 sgutierrez@oryzon.com

Study Design

Study Type: interventional
Phase: phase 2

Study Record Dates

First Submitted

June 25, 2026

Source record

Download the complete CTIS (EMA) record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.

Source: European Medicines Agency (EMA), Clinical Trials Information System (CTIS). Original record and public documents are available on CTIS.

JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.

Registry identifier: 2026-525699-24-00
Data provider: European Medicines Agency (EMA)
Normalization version: ctis-v1

Open registry record

Source retrieved: 2026-10-31 06:51:36 UTC

Documents

D4_Patient facing documents_ES_Diario medicacion

You may not qualify if:

Failure to perform Screening procedures.
Participants with a DSM-5 diagnosis may be included provided that all of the following conditions are met: a) Symptoms of the comorbid condition have been clinically stable for at least 3 months prior to Screening. b) The comorbid condition is not an acute exacerbation and does not require immediate or intensive clinical management. c) No initiation or change in pharmacological or behavioural treatment for the comorbid condition is anticipated during the study period. d) In the Investigator’s opinion, the comorbid condition will not interfere with study participation, safety, or the assessment and reliability of study endpoints.
Clinically significant, advanced, or unstable disease that is likely to result in rapid deterioration of the Participant’s condition or affect their safety during the trial, including but not limited to: a) Respiratory insufficiency: the status must be determined as per usual clinical practice. b) Hepatic impairment (serum values of total bilirubin value, alanine aminotransferase, aspartate aminotransferase and/or gamma-glutamyl transferase > 2 times the upper limit of normal). c) Renal insufficiency (estimated glomerular filtration rate < 90 mL/min/1.73m2). d) Heart disease (myocardial infarction, unstable angina, heart failure class III or IV, cardiomyopathy onset) within 6 months before Screening Visit). e) Uncontrolled hypertension defined as systolic blood pressure ≥ 160 mmHg on 2 separate measurements taken at least 10 minutes apart. f) Atrioventricular block (type II/Mobitz II and type III), congenital long QT syndrome, sinus node dysfunction or prolonged QT interval corrected using Fridericia's formula (QTcF) (males > 450 msec; and females > 470 msec), unless attributable to a right bundle branch block acquired from previous cardiac surgery or congenital heart disease. g) Uncontrolled diabetes (glycosylated haemoglobin [Hb1Ac] > 7.5%). h) Uncontrolled hypo- or hyperthyroidism at Screening, based on laboratory results. i) Platelets < 150,000/mm3 and/or neutrophils < 2,000/mm3. j) Lifetime history of malignancy. k) Lifetime history of moderate‑to‑severe traumatic brain injury.

Safety, tolerability and efficacy of vafidemstat in adults with Phelan McDermid Syndrome (HOPE-2)

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

Conditions

Outcome Measures

Primary Outcomes (7)

Secondary Outcomes (2)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Central Study Contacts

Study Design

Study Record Dates

Source record

Documents

You may not qualify if:

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

Conditions

Outcome Measures

Primary Outcomes (7)

Secondary Outcomes (2)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Central Study Contacts

Study Design

Study Record Dates

Source record

Documents

You may not qualify if:

Locations