Interested in participating? Learn about a clinical study opportunity.
Phase 3 Clinical Study for Children and Adolescents Living With Angelman Syndrome (AS).
You are between the ages of 4 and 18 years
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.
To help researchers learn more about the safety of GTX-102* and the effects it may have on:
* 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.
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.
GTX-102 or standard AS care‡
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.
Assessments, testing, and study treatment (GTX-102) or Sham Control procedure (study procedure with no drug administration)
Discussion about changes in your child’s health, other medications/therapies
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
Gene therapy is the introduction, removal, or change of genetic material in the cells of a person. For certain rare genetic diseases, gene therapy offers the potential for treatment that could have a significant impact on the lives of patients. Find out more details, including how gene therapies are designed to work.
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By submitting this form, you confirm that a diagnosis of OTC has been made by a medical professional.
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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.
Email our PEL team about current and future medical research opportunities.
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.
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