A Trial of Levodopa in Angelman Syndrome

This study is currently recruiting participants.
Verified October 2012 by Children's Hospital Boston
Sponsor:
Collaborators:
Rady Children's Hospital, San Diego
University of California, San Francisco
Baylor College of Medicine
Vanderbilt University
Greenwood Genetic Center
Angelman Syndrome Foundation
Information provided by (Responsible Party):
Wen-Hann Tan, Children's Hospital, Boston
ClinicalTrials.gov Identifier:
NCT01281475
First received: January 20, 2011
Last updated: October 3, 2012
Last verified: October 2012
  Purpose

This study is designed to determine whether levodopa will lead to an improvement in the development and tremor in children with Angelman syndrome (AS).

It has been suggested that levodopa, a medication that is usually used to treat Parkinson disease in adults, may help children with AS in their overall development and reduce the tremor that some of them have.

If levodopa is found to be beneficial for children with AS, this could lead to a new treatment for AS.


Condition Intervention Phase
Angelman Syndrome
Drug: Levodopa/carbidopa
Phase 2
Phase 3

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Efficacy Study
Intervention Model: Parallel Assignment
Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: A Phase 2 Randomized Placebo-Controlled Trial of Levodopa in Angelman Syndrome

Resource links provided by NLM:


Further study details as provided by Children's Hospital Boston:

Primary Outcome Measures:
  • Developmental Outcome Measures [ Time Frame: 12 months ] [ Designated as safety issue: No ]

    Changes in raw or standard scores between baseline and after 12 months of treatment with either placebo or LD/CD of:

    I. Bayley Scales of Infant and Toddler Development, 3rd edition (or the Mullen Scales of Early Learning in the more developmentally advanced subjects) II. Vineland Adaptive Behavior Scales, 2nd edition (standard scores only) III. Preschool Language Scale, 4th edition IV. Aberrant Behavior Checklist - Community version


  • Tremor and Movement Disorder [ Time Frame: 12 months ] [ Designated as safety issue: Yes ]
    Changes in raw score of a modified Unified Parkinson's Disease Rating Scale (mUPDRS), a measure of tremor and movement disorder, from baseline after 12 months in the placebo or the LD/CD group.


Secondary Outcome Measures:
  • EEG [ Time Frame: 12 months, 24 months ] [ Designated as safety issue: No ]
    Changes in electroencephalogram (EEG) scores at 12 months and 24 months.


Estimated Enrollment: 100
Study Start Date: January 2011
Estimated Study Completion Date: June 2014
Estimated Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Levodopa
Levodopa is a prodrug that "delivers" dopamine to the brain. It is usually given with carbidopa, a peripheral decarboxylase inhibitor, to increase the bioavailability of levodopa.
Drug: Levodopa/carbidopa

Levodopa/Carbidopa (4:1)

Dosages are based on levodopa.

Subjects randomized to the levodopa arm will receive a levodopa dose of 5 mg/kg/day in the first 2 weeks of the study, a levodopa dose of 10 mg/kg/day in the second 2 weeks of the study, and a levodopa dose of 15 mg/kg/day (up to a maximum of 800 mg per day) for the remaining duration of the study.

Levodopa/Carbidopa is a combined formulation that will be dispensed as capsules. It should be taken 3 times a day.

Other Names:
  • Sinemet
  • L-dopa
Placebo Comparator: Placebo
The placebo (in this study, microcellulose) is not expected to have any effect.
Drug: Levodopa/carbidopa

Levodopa/Carbidopa (4:1)

Dosages are based on levodopa.

Subjects randomized to the levodopa arm will receive a levodopa dose of 5 mg/kg/day in the first 2 weeks of the study, a levodopa dose of 10 mg/kg/day in the second 2 weeks of the study, and a levodopa dose of 15 mg/kg/day (up to a maximum of 800 mg per day) for the remaining duration of the study.

Levodopa/Carbidopa is a combined formulation that will be dispensed as capsules. It should be taken 3 times a day.

Other Names:
  • Sinemet
  • L-dopa

Detailed Description:

Levodopa is a prodrug that "delivers" dopamine to the brain. It is usually given with carbidopa, a peripheral decarboxylase inhibitor, to increase the bioavailability of levodopa. Animal studies have suggested that levodopa can reverse the excess phosphorylation of some enzymes involved in synaptic and neuronal function, including calcium/calmodulin-dependent kinase type 2 (CaMKII).

Recently, it was shown that excess phosphorylation of CaMKII may be responsible for some of the neurological deficits seen in Angelman syndrome. Therefore, it is hypothesized that levodopa may lead to an improvement in the neurodevelopment and abnormal movements (e.g. tremors) in children with Angelman syndrome.

Although many children have used levodopa for a variety of medical conditions over the last 30 years, it has not been approved by the Food and Drug Administration (FDA) for use in children, and it has not been formally studied in children with Angelman syndrome.

Therefore, the purpose of this study is to find out whether levodopa will lead to an improvement in the development and in the tremor in children with AS.

  Eligibility

Ages Eligible for Study:   4 Years to 12 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  1. Age between 4 years and 12 years (i.e., before the 13th birthday)
  2. Molecular confirmation of the diagnosis of AS, which may include abnormal methylation studies or UBE3A mutation analyses - only subjects with a molecular diagnosis will be allowed to enroll
  3. Not on LD, CD, or any dopamine agonists in the 2 weeks prior to participation

Exclusion Criteria:

  1. Co-morbid disorders that may be associated with developmental or cognitive delays
  2. Poorly controlled seizures - An average of more than 2 clinical seizures per month in the 12 months prior to enrollment.
  3. Use of medications that may interact with LD/CD including atypical antipsychotics (aripiprazole, asenapine, iloperidone, olanzapine, paliperidone, risperidone, ziprasidone), monoamine oxidase inhibitors (isocarboxazid, phenelzine, selegiline, tranylcypromine), or phenytoin within the last 14 days, or other investigational interventions within the past 3 months
  4. Presence of cardiovascular disease or instability, respiratory disease, liver disease, peptic ulcer disease, renal impairment, or hematological disorders
  5. Pregnancy
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01281475

Contacts
Contact: Wen-Hann Tan, BMBS 617-355-4697 wen-hann.tan@childrens.harvard.edu

Locations
United States, California
Rady Children's Hospital, San Diego Recruiting
San Diego, California, United States, 92123
Contact: Rachel Bollenbecker, BSN     858-966-8453     rbollenbecker@rchsd.org    
Principal Investigator: Lynne M. Bird, MD            
University of California, San Francisco Recruiting
San Francisco, California, United States, 94121
Contact: Anne Slavotinek, MD     415-514-1783     slavotia@peds.ucsf.edu    
Principal Investigator: Anne Slavotinek, MD            
United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Jennifer Willen, MA     617-355-4241     jennifer.willen@childrens.harvard.edu    
Principal Investigator: Wen-Hann Tan, BMBS            
United States, South Carolina
Greenwood Genetic Center Recruiting
Greenwood, South Carolina, United States, 29646
Contact: Fran Annese, MSW     864-941-8100     fran@ggc.org    
Principal Investigator: Steven A. Skinner, MD            
United States, Tennessee
Vanderbilt University Medical Center Recruiting
Nashville, Tennessee, United States, 37212
Contact: Selena Carpenter, MEd     615-875-4897     selena.m.carpenter@Vanderbilt.Edu    
Principal Investigator: Gregory Barnes, MD, PhD            
United States, Texas
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: Beverly Feldman, MSN     832-822-4301     bfeldman@bcm.edu    
Principal Investigator: Carlos Bacino, MD            
Sponsors and Collaborators
Wen-Hann Tan
Rady Children's Hospital, San Diego
University of California, San Francisco
Baylor College of Medicine
Vanderbilt University
Greenwood Genetic Center
Angelman Syndrome Foundation
Investigators
Principal Investigator: Wen-Hann Tan, BMBS Children's Hospital Boston
Principal Investigator: Lynne M. Bird, MD Rady Children's Hospital, San Diego
Principal Investigator: Steven A. Skinner, MD Greenwood Genetic Center
Principal Investigator: Carlos A. Bacino, MD Baylor College of Medicine
Principal Investigator: Anne Slavotinek, MD University of California, San Francisco
Principal Investigator: Gregory Barnes, MD Vanderbilt University
  More Information

No publications provided

Responsible Party: Wen-Hann Tan, Attending Physician in Genetics, Children's Hospital, Boston
ClinicalTrials.gov Identifier: NCT01281475     History of Changes
Other Study ID Numbers: 09-12-0610
Study First Received: January 20, 2011
Last Updated: October 3, 2012
Health Authority: United States: Food and Drug Administration

Keywords provided by Children's Hospital Boston:
Angelman syndrome
Levodopa
Carbidopa
L-dopa

Additional relevant MeSH terms:
Angelman Syndrome
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Carbidopa
Levodopa
Antiparkinson Agents
Anti-Dyskinesia Agents
Central Nervous System Agents
Therapeutic Uses
Pharmacologic Actions
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Dopamine Agents
Neurotransmitter Agents
Physiological Effects of Drugs

ClinicalTrials.gov processed this record on May 16, 2013