Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome

This study has been completed.
Sponsor:
Information provided by:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier:
NCT00065923
First received: August 1, 2003
Last updated: April 30, 2013
Last verified: August 2010
  Purpose

Prader-Willi syndrome (PWS) is a genetic disorder usually caused by the deletion of a specific gene. One of the symptoms of PWS is self-injurious behavior (SIB); a common form of SIB in PWS patients is skin picking. The injury may be severe enough to require frequent medical attention. This trial will evaluate SIB in individuals with PWS and will test the effectiveness of the drug topiramate to control SIB.


Condition Intervention
Prader-Willi Syndrome
Self-Injurious Behavior
Drug: Topiramate

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Crossover Assignment
Masking: Double-Blind
Primary Purpose: Treatment
Official Title: Topiramate Effects on SIB in Prader-Willi Syndrome

Resource links provided by NLM:


Further study details as provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):

Estimated Enrollment: 10
Study Start Date: July 2002
Primary Completion Date: December 2005 (Final data collection date for primary outcome measure)
Detailed Description:

PWS is a neurogenetic disorder resulting from a loss of the paternal-only expressed genes on chromosome 15 (15 q11-13). PWS is characterized by a persistent pattern of SIB, most notably skin picking, that results in frequent medical care and attention. SIB in mental retardation and related developmental disabilities is often monitored by behavioral observation methods. Direct evaluation of skin lesions has been reported to help systematically follow wounds and wound healing. However, there are differences between the type and body location of SIB in individuals with PWS as compared to those with mental retardation. The goal of this study is to characterize SIB in PWS and to evaluate the efficacy of topiramate versus placebo in attenuating SIB in individuals with PWS.

A preliminary 8-week open-label study conducted to evaluate topiramate for appetite and weight in PWS has shown good tolerability and beneficial effects of topiramate. During that study, an unexpected and serendipitous finding was that of the six participants, four engaged in SIB and all four had noticeable symptom improvement during the 8 weeks of treatment. Three of these four have continued on topiramate therapy long term with positive results in terms of decreased self-injury.

Participants in the study will be randomized to receive either topiramate or a placebo for 6 weeks. All participants will be monitored for SIB by observation and photographic recordings of the resultant skin lesions, by reports of group home staff, and by standardized rating measurements of self-injury. At the end of 6 weeks, participants receiving topiramate will receive decreasing doses of topiramate; participants receiving placebo will continue to receive the placebo. At week 9, participants previously receiving topiramate will be given placebo and participants previously receiving placebo will be given topiramate. After 6 weeks, all participants will be entered into a 4-month open-label extension phase. Safety and efficacy measurements will be assessed during the 15 study visits; in the event of worsening SIB, the blind will be broken by the study's medical oversight physician and, if appropriate, the participant will be placed directly into the 4-month open-label extension phase.

  Eligibility

Ages Eligible for Study:   18 Years to 66 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria

  • PWS due to deletion of 15 q11-13 or uniparental disomy
  • Actively engaging skin picking behavior
  • Individual with PWS or legal guardian able to provide full informed consent. If legal guardian gives informed consent, then individual with PWS will give his/her assent.
  • Acceptable methods of contraception

Exclusion Criteria

  • Pregnant or breastfeeding
  • Clinically significant suicidality or homicidality
  • DSM-IV diagnosis of substance abuse or dependence within 6 months of study entry
  • Cardiovascular, hepatic, renal, gastrointestinal, pulmonary, metabolic, endocrine, or other systemic disease which could interfere with treatment or assessment of PWS
  • Treatment with any drug which might interact adversely with topiramate
  • Medication or significant behavioral management change within 4 weeks of study entry
  • Personal history or a first-degree family history of nephrolithiasis
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00065923

Locations
United States, Florida
University of Florida-Brain Institute
Gainesville, Florida, United States, 32609
Sponsors and Collaborators
Investigators
Principal Investigator: Nathan A. Shapira, MD, PhD University of Florida
  More Information

Additional Information:
No publications provided

ClinicalTrials.gov Identifier: NCT00065923     History of Changes
Other Study ID Numbers: R03HD42818
Study First Received: August 1, 2003
Last Updated: April 30, 2013
Health Authority: United States: Federal Government

Keywords provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):
Prader-Willi Syndrome
Self-Injurious Behavior

Additional relevant MeSH terms:
Prader-Willi Syndrome
Syndrome
Self-Injurious Behavior
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Obesity
Overnutrition
Nutrition Disorders
Behavioral Symptoms
Topiramate
Anticonvulsants
Central Nervous System Agents
Therapeutic Uses
Pharmacologic Actions
Neuroprotective Agents
Protective Agents
Physiological Effects of Drugs
Anti-Obesity Agents

ClinicalTrials.gov processed this record on September 18, 2014