Phase 2
N=42
Randomized Controlled Study of Donepezil in Fragile X Syndrome
Fragile X Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT01120626 ↗Enrolled (actual)
42
Serious AEs
0.0%
Results posted
Mar 2016
Primary outcome: Primary: Contingency Naming Test (CNT) Performance Score — 37.05; 40.50; 66.94; 61.56 correct responses per minute
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- donepezil (Drug); sugar pill (Drug)
- Age
- Pediatric, Adult · 12+ yrs
- Sex
- All
- Sponsor
- Stanford University
- Primary completion
- Dec 2013
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Contingency Naming Test (CNT) Performance Score |
37.05; 40.50; 66.94; 61.56 | — |
| SECONDARY Aberrant Behavior Checklist (ABC) |
17.56; 24.43 | — |
Summary
Fragile X syndrome (FraX) is the most common known heritable cause of human intellectual disability. Though recent research has revealed much about the genetic and neurobiological bases of FraX, knowledge about specific and effective treatments for affected individuals is lacking. Based on information from both human and animal studies, one cause of intellectual disability in FraX may be related to deficits in a particular brain neurotransmitter system (the "cholinergic" system). Thus, the investigators propose to use a specific medication, donepezil, to augment cholinergic system in adolescents affected by FraX. If found to be effective, the knowledge generated by this research may also be relevant to other developmental disorders that share common disease pathways with FraX.
Eligibility Criteria
Inclusion Criteria
- confirmed genetic diagnosis of fragile X syndrome
- age >=12, = 50, = 3
Exclusion Criteria
- Current or lifetime DSM-IV diagnosis of bipolar disorder, schizophrenia, schizoaffective disorder, or psychotic disorder, NOS based upon reported history
- Poorly controlled seizure disorder or taking more than one anticonvulsant (subjects cannot be prescribed carbamazepine, phenytoin, or phenobarbital due to potential interaction effects with donepezil). The investigators will permit one anticonvulsant as monotherapy for seizures if the seizure disorder is well controlled with no evidence of break through seizures within the past year
- Concomitant or anticipated use of other medications having prominent effects on the cholinergic system (e.g., bethanechol, benztropine, atropine, succinylcholine)
- Medications or nutritional supplements that have the potential to significantly alter donepezil levels, clinical effects or adverse reactions (antifungal agents, corticosteroids, erythromycin, beta-blockers, calcium channel blockers, NSAIDs, gingko biloba, St. John's wort)
- Medical illnesses where donepezil could worsen the condition such as asthma, cardiac conduction abnormalities, urinary obstruction or gastrointestinal disease with gastric bleeding
- Pregnancy or sexually active females not using a reliable method of contraception
- If considering participation in brain MRI part of the study, then any contraindications for MRI (e.g., orthodontia, metal in or on the body, etc.)
Data sourced from ClinicalTrials.gov (NCT01120626). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.