A Study to Investigate RO7248824 in Participants With Angelman Syndrome


About this study

The primary objective of this study is to investigate the safety and tolerability of RO7248824 in participants with Angelman Syndrome (AS) aged 1-12 years.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

1. The participant has a parent, caregiver or legal representative (hereinafter “caregiver”) who is reliable, competent and at least 18 years of age. The caregiver is willing and able to accompany the participant to clinic visits and to be available to the Investigational Site by phone or email if needed and who (in the opinion of the investigator) is and will remain sufficiently knowledgeable of participant’s ongoing condition to respond to any inquiries about the participant from personnel from the Study Site.  2. A caregiver must be able to consent for the participant according to International Council on Harmonisation (ICH) and local regulations.  3. Ability to comply with all study requirements.  4. Have adequate supportive psychosocial circumstances.  5. Able to tolerate blood draws.  6. Able to undergo LP and IT injection, under sedation or anesthesia if needed and as determined appropriate by the Investigator.  7. Stable medical status for at least 4 weeks prior to Screening and at the time of enrollment. 8. Bodyweight of >= 7 kg.
9. Participant must be >= 1 to <= 12 years of age at the time of signing of the informed consent by the caregiver.  10. Clinical diagnosis of AS confirmed by a molecular diagnosis with genotypic classification of either:  - UBE3A truncation mutation of maternal allele  - Deletion on the maternally inherited chromosome 15q11q13 that includes the UBE3A gene and is less than 7 Mb in size.

Reproductive status
Some of the provisions that follow may have limited applicability based on the age range of study participants (i.e., up to the age of 12) and the nature of the disease under study. These provisions are nonetheless included for purposes of completeness in order to make clear that
individuals who are pregnant, or are engaging in actions that may cause them to become pregnant, should not participate in this study.
Consent must be provided by the legal representative for all participants.
a) Female Participants
A female participant is eligible to participate if she is not pregnant, not breastfeeding, and at least one of the following conditions applies:
 Women of non-childbearing potential.
 Women of childbearing potential who agree to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the treatment period and for at least 6 months after the final dose of RO7248824.
The following are acceptable contraceptive methods: bilateral tubal occlusion/ ligation, male sexual partner who is sterilized, established proper use of hormonal contraceptives that inhibit ovulation, hormone-releasing intrauterine devices and copper intrauterine devices,
male or female condom with or without spermicide; and cap, diaphragm, or sponge with spermicide.
b) Male Participants
During the treatment period and for at least 6 months after the final dose of RO7248824, consent has to be provided to:
 Remain abstinent (refrain from heterosexual intercourse) or use contraceptive measures such as a condom, with a female partner of childbearing potential, or pregnant female partner, to avoid exposing the embryo.
The reliability of sexual abstinence for male and/or female enrollment eligibility needs to be evaluated in relation to the duration of the clinical study and the preferred and usual lifestyle of the participant. Periodic abstinence (e.g., calendar, ovulation, symptothermal, or post-ovulation
methods) and withdrawal are not acceptable methods of preventing drug exposure.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Ralitza Gavrilova, M.D.

Contact us for the latest status

Contact information:

Bridget Neja C.N.A.

(507) 266-9150


More information


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