Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease

An Outpatient Phase 3 Efficacy Study of Ecopipam (PSYRX 101) in the Symptomatic Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease

The purpose of this research study is to gather scientific information about the effectiveness and safety of the study drug, Ecopipam (PSYRX 101), for the treatment of self-injurious behaviors when compared with the effectiveness and safety of placebo (inactive substance) in subjects with Lesch-Nyhan Disease.

Study Overview

• Status: Terminated
• Conditions: Lesch-Nyhan Disease; Self-injurious Behavior
• Intervention / Treatment: Drug: Ecopipam; Drug: Placebo

Detailed Description

This study will be done in approximately 6 centers in approximately 4 countries, and approximately 24 subjects will be included. This study is divided into two parts. The first is a double-blinded portion lasting up to 18 weeks in total. The second portion is an optional open-label extension and lasts up to 54 weeks total. The total duration of the study, if you choose to participate in both portions, is anticipated to be up to approximately 78 weeks.

The first portion of this study is double-blind and assignment to a treatment group is done randomly. In this study, there are two treatment groups. One group will receive Ecopipam for one 6-week period and placebo for two 6-week periods, and the other group will receive Ecopipam for two 6-week periods and placebo for one 6-week period.

Subjects who did not experience any clinically significant side effects during the blinded portion of the study may be eligible to participate in an open-label extension that may last up to 54 weeks.

• Study Type: Interventional
• Enrollment (Actual): 9
• Phase: Phase 3

Contacts and Locations

Study Locations

• Spain
  • Madrid, Spain
    • Hospital Universitario La Paz
• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • H.J. Jinnah

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years to 68 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Subjects must have classic LND as defined by (a) characteristic clinical syndrome (evidence of overproduction of uric acid, severe generalized dystonia, frequent and persistent self-injurious behavior (SIB), and cognitive impairment) and (b) laboratory confirmation for mutation of the HPRT gene or severe deficiency of the associated enzyme.
• Subjects must have a minimum combined score of 20 on the Behavior Problems Inventory (BPI) SIB subscales for frequency and severity as assessed by the caregiver.
• Subjects must have a minimum score of 4 on the Physician's Global Impression (PGI) severity scale.
• Subject must be ≥ 6 years old.
• Subjects must weigh > 10 kg.

Exclusion Criteria:

• Subjects who are currently treated with medications for seizures.
• Subjects who are on neuroleptics or dopamine-depleting agents.
• Subjects with impaired renal function as defined by a serum creatinine >1.5 mg/dL.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Randomized
• Interventional Model: Crossover Assignment
• Masking: Quadruple

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Ecopipam; Active substance being tested, orally once a day at bedtime	Drug: Ecopipam; Antagonist of the dopamine D1 receptor; Other Names: SCH 39166; PSYRX 101
Placebo Comparator: Placebo; Inactive substance being tested, orally once a day at bedtime	Drug: Placebo; Placebo for Ecopipam

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Behavior Problems Inventory - Self-Injurious Behavior Subscale	The primary endpoint is the BPI (SIB subscales - total for frequency and severity) as assessed by the caregiver. BPI Self-Injurious Behavior Subscale ranges from 0 to 45, with higher scores indicating more self-injurious behavior.	Baseline, end of period 1 (6 weeks), end of period 2 (12 weeks), end of period 3 (18 weeks),

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Effect of Ecopipam Withdrawal and Maintenance	The secondary objectives of this study are to assess the effect of withdrawal and maintenance of ecopipam's effects in subjects with LND. Measured by the number of participants whose score changes significantly from baseline on ecopipam or placebo	Baseline, 6 weeks, 12 weeks, 18 weeks
Safety Summary of Ecopipam in Patients With Lesch-Nyhan Disease: Total Number of Serious and Non-Serious Adverse Events Experienced During 3 Double-blind Crossover Periods	An additional objective of the study is to assess the safety of ecopipam in subjects with LND for up to 52 weeks. Total number of serious and non-serious adverse events experienced by participants while receiving ecopipam or placebo. For additional detail, see Adverse Events	Total duration over which participants recieved double-blind ecopipam or placebo, up to 6 or 12 weeks

Collaborators and Investigators

• Sponsor: Emalex Biosciences Inc.
• Collaborators: Psyadon Pharma
• Investigators: Principal Investigator: H J Jinnah, MD, Emory University

Publications and helpful links

Helpful Links

• Sponsor's website

Study record dates

Study Major Dates

• Study Start: December 1, 2012
• Primary Completion (Actual): December 1, 2013
• Study Completion (Actual): December 1, 2014

Study Registration Dates

• First Submitted: December 14, 2012
• First Submitted That Met QC Criteria: December 14, 2012
• First Posted (Estimated): December 18, 2012

Study Record Updates

• Last Update Posted (Estimated): April 22, 2024
• Last Update Submitted That Met QC Criteria: April 18, 2024
• Last Verified: October 1, 2015

More Information

Terms related to this study

• Keywords: Lesch Nyhan Disease; Self-Injury
• Additional Relevant MeSH Terms: Behavioral Symptoms; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Purine-Pyrimidine Metabolism, Inborn Errors; Self-Injurious Behavior; Lesch-Nyhan Syndrome; Physiological Effects of Drugs; Neurotransmitter Agents; Molecular Mechanisms of Pharmacological Action; Central Nervous System Depressants; Antipsychotic Agents; Tranquilizing Agents; Psychotropic Drugs; Dopamine Agents; Dopamine Antagonists; Ecopipam
• Other Study ID Numbers: PSY102