Another new clinical trial is being offered by Dr. Brian Skotko and his study team at MassGeneral Hospital. A number of spots are available to eligible adolescents and adults with Down syndrome to participate. In this clinical trial, an investigational medicine, not yet approved by the FDA, will be studied. The clinical trial is looking at how the new drug affects learning, memory, and language abilities in people with Down syndrome. There will be 180 people with Down syndrome involved in the study worldwide. We will be enrolling up to 20 participants here at MassGeneral Hospital. Currently there are spots available for ages 12-30.

This study is being funded by F. Hoffman-LaRoche, which has developed the study drug. To see if your family member is eligible to take part in this study, please review these questions first. If you would like your family member to participate in this study, or if you have further questions, please contact Mary Ellen McDonough, Senior Clinical Research Coordinator in the MassGeneral Hospital Down Syndrome Program, at 617-643-5571 or

Why is this research study being done?

In this study we will be examining the effect of RO5186582 in adolescents and young adults with Down syndrome. There has been limited success to date in treating cognition in people with Down syndrome and impairment in learning, memory, and speech still represent a major barrier to greater independence and accomplishment. In people with Down syndrome, the expression of a transmitter (GABA) is too high and is known to impair cognition. RO5186582 acts in the brain to prevent the expression of this transmitter. By preventing the expression of this transmitter, it is believed that memory and learning deficits can be improved.

Why is this study on a first-come/first serve basis?

The drug company, Roche, has made available a limited number of spots for each site participating in this study. MassGeneral Hospital has the ability to enroll up to 20 subjects in this study.

How long will I take part in the research study?
Your family member with Down syndrome and one other accompanying family member will need to make 10 visits to MassGeneral Hospital over a period of ten months.  
What does this Clinical Trial involve?
Each person in the study will be given either the study drug (RG1662) or a pill that contains no medicine (placebo). A placebo looks the same as the study drug (RG1662) but has no medicine in it. Neither you nor the study doctor will know which drug is given. If you agree to take part in this study you will be asked to make 10 clinic visits over a period of 10 months. These visits will last between 2-6 hours.
Will being in this study help my family member with Down syndrome?
There is no guarantee that your family member will benefit from this study. Information from the study might help researchers to come up with new tests or medications to help people with Down syndrome in the future. Below is an outline of who is eligible—and who is not—to participate in this clinical trial. These criteria were established by F. Hoffman-LaRoche, the study Sponsor. The person with Down syndrome does NOT need to be an established patient in the MassGeneral Hospital Down Syndrome Program in order to participate in this research opportunity. Please read through all of these criteria, and if you think your family member with Down syndrome qualifies, please call Mary Ellen McDonough, RN, Senior Clinical Research Coordinator at the MassGeneral Hospital Down Syndrome Program at (617) 643 – 5571 or You may ask her any questions about the study. Please remember, people will be considered on a first-come/ first-serve basis. At MassGeneral Hospital, we will have up to 20 spots for those who are interested and qualify.
Will I be paid?
Parking will be validated. You will be compensated up to $750 for your participation in the study.

Your family member with Down syndrome must meet ALL of the following requirements to be able to participate in the drug study:

  • Males and females, 12-30 years of age inclusive.
  • Clinical diagnosis of Down syndrome (trisomy 21) confirmed by chromosomal analysis (karyotyping). Subjects may have standard trisomy 21, Robertsonian translocation, isochrome 21 (so called 21q21q Robertsonian translocation), Down syndrome with reciprocal translocation or mosaicism.
  • Ability to complete the testing and evaluation of language and memory.
  • Must be willing and assenting or consenting to participate.
  • Parent or guardian must be willing to give written informed consent.
  • Have a parent or, other reliable caregiver, who will agree to accompany the study participant to the visits during the drug study.
  • The parent or caregiver must be a constant and reliable informant with sufficient contact with the study participant to have detailed knowledge of the study participant’s adaptive functioning in order to be able to complete the assessments accurately.
  • The person with Down syndrome must be verbal and able to be understood most of the time and must not use other forms of communication, signs, symbol boards, or devices as their primary form of communication.
  • The person with Down syndrome should have sufficient vision and hearing to participate in the study-related assessments. This will be based on the clinical judgment of the study doctor.
  • The person with Down syndrome, if taking anti-epileptic medications, must have been on a stable dose for at least 4 weeks prior to enrollment in the treatment protocol and that there are no anticipated changes to the ant-epileptic medication dose; withdrawal of anti-epileptic medications; or initiation of additional anti-epileptic medications during the treatment study.

If ANY of the following apply to the person with Down syndrome at this time, he or she would NOT qualify for this study:

  • Severe lactose intolerance.
  • Moderate or severe sleep apnea not well controlled by CPAP.
  • History of any malignancy, if not considered likely to be cured.
  • History of epilepsy in the last 2 years. Personal history of Infantile Spasms, of Lennox-Gastaut syndrome.
  • Early Infantile Epileptic Encephalopathy or any treatment-refractory epilepsy associated with cognitive or developmental regression, of severe head trauma or Central Nervous System infections (e.g. meningitis), with the exception of a single isolated seizure.
  • The person with a known or suspected seizure of any type within 24 months prior to screening.
  • The person with Down syndrome has been seizure-free for 24 months but have required frequent changes of type or dose of anti-epileptic, have consistently had a sub-therapeutic dose levels or who will, in the judgment of the study doctor will require dose alterations, or withdrawal of anti-epileptic medications during the treatment study or are likely to require additional anti-epileptic medication during the treatment study.
  • Evidence of unstable digestive, kidney, liver, endocrine, or heart disease. Diabetes mellitus requiring insulin or not chronically well controlled by other medications. Alcohol and/or substance abuse or dependence in the past year.
  • Diagnosis of any primary psychiatric diagnosis (including autism spectrum disorder). Problems with intellectual disability, attention deficit hyperactivity disorder, depression, and conduct disorder are allowed as long as they are considered stable and will not interfere with conduct of the drug study.
  • History of suicide attempt or deliberate self-harm. During the past 6 months, thinking about suicide or self-harm.
  • Personal or family history of congenital long QT syndrome.
  • History of HIV or Hepatitis C.
  • Pregnant or breast feeding.
  • Use of certain medications (see below)
  • Participation in another clinical drug trial within one month prior.

Medications that cannot be taken during this study:

Barbiturates (if used longer than 1 week in duration) Allobarbital, amobarbital, aprobarbital, barbexaclone, barbital, butobarbital, cyclobarbital, ethallobarbital, heptabarbital, hexobarbital, hexobarbital, metharbital, methohexital, methohexital, methylphenobarbital, pentobarbital, phenobarbital, primidone, proxibarbal, reposal, secobarbital, talbutal, thiopental, thiopental, vinbarbital, vinylbital

Benzodiazepinesand benzodiazepine-related drugs
(if used longer than 1 week in duration)
Adinazolam, alprazolam, bromazepam, brotizolam, camazepam, chlordiazepoxide, cinolazepam, clobazam, clonazepam, clotiazepam, cloxazolam, diazepam, doxefazepam, estazolam, eszopiclone, ethyl loflazepate, etizolam, fludiazepam, flunitrazepam, flurazepam, halazepam, haloxazolam, ketazolam, loprazolam, lorazepam, lormetazepam, medazepam, midazolam, nimetazepam, nitrazepam, nordazepam, oxazepam, oxazolam, pinazepam, potassium clorazepate, prazepam, quazepam, temazepam, tetrazepam, tofisopam, triazolam, zaleplon, zolpidem, zopiclone
Other anxiolytics, hypnotics and sedatives
Acetylglycinamide chloral hydrate, bromides, chloral hydrate, chloralodol, clomethiazole, dichloralphenazone, emylcamate, ethchlorvynol, mebutamate, meprobamate, methaqualone , paraldehyde

Anesthetics (except for short-term use)
Alfaxalone, chloroform, desflurane, enflurane, esketamine, etomidate, halothane, isoflurane, ketamine, nitrous oxide, propofol, sevoflurane, trichloroethylene, xenon

GABAA antagonists Flumazenil

Anti-epileptic drugs Phenelzine, tiagabine, valproic acid, vigabatrin

Anti-dementia drugs Donepezil, galantamine, Ginkgo folium, memantine, rivastigmine, tacrine



Partners Human Research Committee APPROVAL Effective Date 6/6/2014  

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