Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome
Condition: Prader-Willi Syndrome; Self-Injurious Behavior
MeSH terms: Prader-Willi Syndrome; Syndrome; Self-Injurious Behavior
Study type: Interventional

Summary: 
      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.
    

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.
    

Intervention name(s): Topiramate
Intervention type(s): Drug
Intervention MeSH terms: Topiramate
Allocation: Randomized
Intervention model: Crossover Assignment
Masking: Double
Primary purpose: Treatment
Keywords: Prader-Willi Syndrome; Self-Injurious Behavior