Angelman Syndrome (AS)

Interested in participating? Learn about a clinical study opportunity.

NOT YET RECRUITING NOT YET RECRUITING

STUDY| Clinical Interventional

Phase 3 Clinical Study for Children and Adolescents Living With Angelman Syndrome (AS).

Key ELIGIBILITY

You are 4 to less than 18 years of age

Has confirmed deletion of the maternal copy of the UBE3A gene causing AS

Can walk independently or with an assistive device

If your child has been previously treated with an ASO or gene therapy, they may not be eligible to participate in this study. Please discuss any previous treatments with the study team to see if your child may be able to participate.

Why are we doing this study?

To help researchers learn more about the safety of GTX-102* and the effects it may have on:

Cognitive function
Behavior
Communication
Sleep
Motor function

* GTX-102 is an investigational antisense oligonucleotide (ASO) that is not currently approved by any health authority. However, it has been given to children and adolescents in a prior study.

For more information, please visit clinicaltrials.gov

What is involved?

Study treatment
If eligible, your child will either receive study treatment (GTX-102) for 2 years or be in a Sham Control group for the first year, then receive GTX-102 in the second year. This is designed to show that GTX-102 is safe and works better than routine medical care. All children will have the opportunity to receive GTX-102 during the study. GTX-102 is given as a low starting dose every 4 weeks to start. Over time, the dose increases, and the dosing interval increases to 8 weeks and then 12 weeks.

1. Double-blind Period
(11 months)

GTX-102 or standard AS care^‡

Transition
(2 months)

2. Open-label Period
(11 months)

GTX-102

‡ Double-blind study treatment is assigned at random, with an equal chance of each option. The Double-blind Period will include a Sham Control group.

Sham Control group
Sham Control groups are included in clinical studies so researchers can compare the effects of an investigational treatment to the absence of treatment. Participants in the Sham Control group will go through all the same procedures as the GTX-102 group, except they will not receive GTX-102 in the Double-blind Period. This keeps you and the study team from knowing if a participant is receiving active treatment or not. This helps researchers understand more about the investigational treatment.

Study visits
You and your child will have monthly visits to monitor your child’s health. About half will be in-clinic visits. Where allowed, support is provided for travel costs.

In-clinic visits

Assessments, testing, and study treatment (GTX-102) or Sham Control procedure (study procedure with no drug administration)

Phone/virtual visits

Discussion about changes in your child’s health, other medications/therapies

What you can expect?

Physical exams

Neurological exams

Heart testing (electrocardiograms)

Blood, urine, and spinal fluid sample collection

Lumbar puncture (possible use of sedation)

AS functional assessments

Questionnaires for caregivers

Brainwave testing (EEG) and Video Assessments for some participants

Interested in participating or have questions? Get started

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Additionally, with this consent, Ultragenyx will retain such information to provide you with program updates, newsletters, and other communications.

Ultragenyx will retain your personal data in accordance with its regulatory record-keeping requirements or for as long as we have a legitimate legal or business need to do so. You understand that you can withdraw your consent at any time by contacting [email protected]. For more on our privacy practices and your privacy rights, including the right to withdraw your consent, please refer to our Privacy Policy at https://www.ultragenyx.com/privacy-policy/

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By submitting this form, you confirm that a diagnosis of AS has been made by a medical professional.

If you would like to know more about your privacy and the data you submit and data we collect while you are on this website, please see below or visit our privacy policy.

What happens after you submit your information?

Our Patient Enrollment Liaison (PEL) team will contact you by email or phone within one business day to discuss your study eligibility and answer questions.

If you choose to be contacted by email, be sure to check your spam folder for an email from [email protected], if it’s not in your regular inbox.

Got Questions?

Email our PEL team about current and future medical research opportunities.

EMAIL PEL

Angelman Syndrome (AS) Deficiency patient representation

Patient portrayal.

Angelman Syndrome (AS) is a rare genetic neurodevelopmental disorder that is caused by a lack of expression of the maternal copy of the UBE3A gene on chromosome 15q11-13 in the brain. Children with AS have intellectual disability, severe speech impairment, and seizures throughout their lives.

If you are thinking about joining a study, our Patient Enrollment Liaison (PEL) team is here to help. Every member of our PEL team has a robust professional background and clinical expertise and experience to help answer your questions. Your PEL team member will assist in exploring Ultragenyx clinical and non-interventional clinical trials and related sites where you could be considered for enrollment. Your PEL is here to make the process as easy as possible.

To speak with a PEL about current and future medical research opportunities, please email our PEL team at [email protected].

When you voluntarily submit your personal data, Ultragenyx stores and processes this information in an electronic database consistent with our Privacy Policy. Ultragenyx will use this information to contact you to fulfill your request regarding Ultragenyx research opportunities.

Clinical and nonclinical studies provide invaluable information to treat, diagnose, or discover new breakthroughs in treating rare and ultra-rare diseases. By choosing to participate in research, you may help advance treatments, provide crucial insights, and ultimately improve the quality of life for others living with a rare or ultra-rare disease. You might also benefit from learning more about your condition, gain access to specific care, or achieve faster access to treatment. All efforts of participation, big and small, can make a difference.

Ultragenyx is leading the future of rare disease medicine. We leverage our experience, insight, and commitment to help move the rare disease community forward. Our primary goal is to provide medicines to those with limited options, and to help patients face rare disease head on with courage and confidence.

Research Study Opportunity

Angelman Syndrome (AS)

Research Study Opportunity

Key ELIGIBILITY

Why are we doing this study?