Trials & Studies in AS

There are so many ways to get involved!

FAST is committed to keeping you up to date with the latest in research for Angelman syndrome and news on upcoming and ongoing clinical trials. On this page we have included a few resources to assist you in understanding the basics of clinical trials and observational studies along with what is currently active on clinicaltrials.gov for Angelman syndrome. We are here to keep you informed and up to date on the various different options available for individuals living with Angelman syndrome.


We have aligned each trial and study with our Roadmap to a Cure to understand how each is critical to our aggressive research agenda.

For more information about current clinical trials visit: www.clinicaltrials.gov

This website does not provide medical advice. The information, including, but not limited to text, graphics, images and any other content contained on this website is for informational purposes only.  Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

To find an AS clinic, please click below:

Clinical Trials

In clinical trials, investigators test potential ways to treat, detect or even prevent a disorder. Treatments might include investigating new drugs (ones that aren’t yet approved for use or previously approved drugs for other disorders), a combination of drugs, or other new procedures/approaches to help improve a condition. Clinical trials can also evaluate other aspects of patient care, like techniques to improve symptoms or quality of life.

A well designed clinical trial is the gold-standard to prove that any treatment, or new medical approach, is safe and actually has an effect in improving signs or symptoms of a disorder.  Clinical trials are usually conducted in different phases. Depending on the disease, the known safety data of a drug or device, or the size of the population, some of these phases might be skipped or combined.

Combined phase trials like Phase 1/2 and Phase 2/3 are fairly common in rare disease populations like Angelman syndrome.

The purpose of a Phase 1 clinical trial is to study whether a new treatment is  safe and well tolerated, and to identify any potential side effects (adverse events).  Oftentimes Phase 1 studies use different dose levels of a drug to learn about the safety of these dose levels.  Phase 1 studies often look at safety in a  small number of patients (~20-60), depending on the size of the patient population and the different dose levels being tested. Sometimes Phase 1 studies are conducted in healthy volunteers rather than in patients with the disorder.

The purpose of a Phase 2 clinical trial is to start testing whether a new drug is safe and shows benefit (meaning it has an impact on symptoms of the disease) in a population of patients with the disorder. Side effects and tolerability continue to be carefully monitored, and all of this information will generally be used to design a larger Phase 3 “confirmatory” clinical trial. A Phase 2 trial usually involves a larger number of patients (~50-300), depending on the size of the population. 

During Phase 3, sometimes called a pivotal study, the goal is to confirm the results of earlier studies and definitely show that  a new drug is safe and provides benefit on important symptoms of a disorder.   For example, in AS, important symptoms that could be impacted by a treatment might include changes in communication, motor function, seizures, sleep, behaviors, or other important symptoms. Phase 3 studies might involve hundreds or even thousands of patients depending on the size of the population.

Participate in Clinical Trial

Type:
ASO
Sponsor:
Ultragenyx
FAST Pillar:
Pillar 2
Status:
Recruiting
Genotype:
Deletion
Ages:
4-17
Recruiting Countries:
USA, Australia, Canada, Germany, France, Israel, Spain, UK
Phase:
1/2
Start Date:
2020-02-24
Est Study Completion Date:
2025-12-01
Drug Name:
GTX-102
Administration Technique:
IT injection
NCT:
NCT04259281
Recruitment / Coordinator Contact:
Site Locations:

United States, Illinois
Rush University Medical Center
Chicago, Illinois, United States, 60612

Australia
Queensland Children's Hospital
South Brisbane, Australia, QLD 4101
Contact: Emily Milburn
CHQ_CCTRND@health.qld.gov.au

Australia, Victoria
Austin Health
Heidelberg, Victoria, Australia, 3084

The Royal Children's Hospital
Parkville, Victoria, Australia, 3052

Canada, Alberta
MAGIC Clinic Ltd
Calgary, Alberta, Canada, T2E 7Z4
Contact: Aneal Khan, MD
akhan@discoveryDNA.ca

Canada, British Columbia
British Columbia Children's Hospital
Vancouver, British Columbia, Canada, V6H3V4

Canada, Ontario
Children's Hospital of Western Ontario
London, Ontario, Canada
Contact: Rhiannon Hicks
rhiannon.hicks@lhsc.on.ca

Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada, K1H 8L1
Contact: Erick Sell, MD
esell@cheo.on.ca

Canada, Quebec
McGill University Health Centre
Montréal, Quebec, Canada
Contact: Freqerique Arnaud
Frederique.Arnaud@MUHC.MCGILL.CA

France
Hopital de la Timone Marseille
Paris, France, 75015

France, AP-HP Hopital Necker-Enfants Malades
Paris, France, 75015

Germany
Universitatsklinikum Hamburg-Eppendorf
Hamburg, Germany, 20246

Germany, Sachsen
Universitatsklinkikum Leipzig
Leipzig, Sachsen, Germany, 04103

Israel
The Edmond and Lily Safra Children's Hosptial
Ramat Gan, Israel

Spain, Barcelona
Hospital Sant Joan de Deu
Esplugues De Llobregat, Barcelona, Spain

Hospital Universitari Parc Tauli
Sabadell, Barcelona, Spain

Spain, Madrid
Hospital Universitario Puerta de Hierro
Majadahonda, Madrid, Spain

United Kingdom
Cambridge University Hospitals
Cambridge, United Kingdom
Contact: Kay Lilley
kay.lilley@addenbrookes.nhs.uk

Great Ormond Street Hospital for Children
London, United Kingdom
Contact: Helen Cross, MD
Helen.Cross@gosh.nhs.uk

Oxford University Hospitals NHS Foundation Trust
Oxford, United Kingdom, OX3 7LE
Contact: Laurent Servais, MD PhD
laurent.servais@paediatrics.ox.ac.uk

Learn More
Type:
ASO
Sponsor:
Ionis
FAST Pillar:
Pillar 2
Status:
Recruiting
Genotype:
Deletion, Mutation
Ages:
2-50
Recruiting Countries:
USA, Australia, France, Israel, Italy, UK
Phase:
1/2
Start Date:
2021-12-22
Est Study Completion Date:
2025-01-01
Drug Name:
ION582
Administration Technique:
IT injection
NCT:
NCT05127226
Recruitment / Coordinator Contact:
Site Locations:

United States, California
Rady Children's Hospital
San Diego, California, United States, 92123

United States, Colorado
Colorado Children's Hospital Research Institute
Aurora, Colorado, United States, 80045

United States, Illinois
Rush University Medical Center
Chicago, Illinois, United States, 60612

United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02215

United States, North Carolina
University of North Carolina at Chapel Hill School of Medicine
Carrboro, North Carolina, United States, 27510

United States, Texas
Texas Children's Hospital
Houston, Texas, United States, 77030

Australia
Sydney Children's Hospital, Kids Cancer Centre
Randwick, Australia, NSW 2031

France
Necker-Enfants Malades Hospital
Paris, France, 75015

Israel
Sheba Medical Center
Ramat Gan, Israel, 5262100

Italy
Azienda Ospedaliera Universitaria Pisana
Pisa, Italy, 56126

United Kingdom
STRONG Group University of Oxford
Oxford, Oxfordshire, United Kingdom, OX3 9DU

Learn More
Type:
ASO
Sponsor:
Roche
FAST Pillar:
Pillar 2
Status:
Active, not recruiting
Genotype:
Deletion, Mutation
Ages:
1-12
Recruiting Countries:
USA, Italy, Netherlands, Spain
Phase:
1
Start Date:
2020-08-19
Est Study Completion Date:
2023-12-31
Drug Name:
RO7248824
Administration Technique:
IT injection
NCT:
NCT04428281
Recruitment / Coordinator Contact:
Site Locations:

United States, California
UCLA Neuropsychiatric Institute
Los Angeles, California, United States, 90024

Rady Children's Hospital - San Diego
San Diego, California, United States, 92123

United States, Colorado
University of Colorado Denver, Children's Hospital
Aurora, Colorado, United States, 80045

United States, Illinois
Rush Medical Center
Chicago, Illinois, United States, 60612

United States, Minnesota
Mayo Clinic - Rochester
Rochester, Minnesota, United States, 55905

United States, New York
Columbia University Medical Center
New York, New York, United States, 10032

United States, North Carolina
Carolina Institute for Development Disabilities University of North Carolina/School of Medicine
Carrboro, North Carolina, United States, 27510

United States, Texas
Baylor College of Med; Texas Child Hosp; Pediactric Dept
Houston, Texas, United States, 77030

Italy
Ospedale Pediatrico Bambino Gesù; Dip. Neuroscienze e Neuroriabilitazione
Roma, Lazio, Italy, 00165

Netherlands
Erasmus MC / location Sophia Kinderziekenhuis
Rotterdam, Netherlands, 3015 GJ

Spain
Hospital Sant Joan De Deu
Esplugues De Llobregas, Barcelona, Spain, 08950

Corporacio Sanitaria Parc Tauli
Sabadell, Barcelona, Spain, 08208

Hospital Universitario Virgen del Rocío
Sevilla, Spain, 41013

Learn More
Type:
Downstream Target
Sponsor:
Roche
FAST Pillar:
Pillar 3
Status:
Recruiting
Genotype:
Deletion
Ages:
5-17
Recruiting Countries:
USA, France, Italy, Spain
Phase:
2
Start Date:
2023-07-31
Est Study Completion Date:
2025-03-21
Drug Name:
Alogabat
Administration Technique:
Oral Dose
NCT:
NCT05630066
Recruitment / Coordinator Contact:
Site Locations:

United States, Illinois
Rush Medical Center
Chicago, Illinois, United States, 60612

United States, New York
Columbia University Medical Center
New York, New York, United States, 10032

United States, North Carolina
Carolina Institute for Development Disabilities University of North Carolina/School of Medicine
Carrboro, North Carolina, United States, 27510

France
Hopital la Timone Enfants; Service de Pediatrie et Neurologie Pediatrique
Marseille, France, 13005

Groupe Hospitalier Necker Enfants Malades
Paris, France, 75015

Italy, Lazio
Ospedale Pediatrico Bambino Gesù; Dip. Neuroscienze e Neuroriabilitazione
Roma, Lazio, Italy, 00165

Italy, Liguria
IRCCS Istituto G. Gaslini; UOC Neurologia Pediatrica e Malattie Muscolari
Genova, Liguria, Italy, 16147

Spain, Barcelona
Corporacio Sanitaria Parc Tauli
Sabadell, Barcelona, Spain, 08208

Learn More
Type:
Downstream Target
Sponsor:
Neuren
FAST Pillar:
Pillar 3
Status:
Recruiting
Genotype:
Deletion, Mutation, UPD, ICD
Ages:
3-17
Recruiting Countries:
Australia
Phase:
2
Start Date:
2022-07-12
Est Study Completion Date:
2023-05-18
Drug Name:
NNZ-2591
Administration Technique:
Oral Solution
NCT:
NCT05011851
Recruitment / Coordinator Contact:
Site Locations:

Australia, New South Wales Sydney Children's Hospital Recruiting
Randwick, New South Wales, Australia, 2031
Contact: Kaitlyn Griffin (02) 9382 1549
kaitlyn.griffin@health.nsw.gov.au

Australia, Queensland Centre for Clinical Trials in Rare Neurodevelopmental Disorders at Children's Health Queensland Hospital and Health Service Recruiting
South Brisbane, Queensland, Australia, 4101
Contact: Emily Milburn (07) 3069 7532
Emily.Milburn@health.qld.gov.au

Australia, Victoria Austin Health Recruiting Heidelberg, Victoria, Australia, 3084
Contact: Greesha Zacharia (03) 9035 7361
greesha.zacharia@unimelb.edu.au

Learn More

Observational Studies

In some studies the investigator (sometimes referred to as a researcher, or a primary investigator [PI]), does not test new drugs on an individual with a disorder they are evaluating. Instead, the goal of the research is to observe the person or patient to learn more about a condition and how it changes (or doesn’t change) over time. This observation or assessment helps the investigator understand the disorder, better describe the condition, and understand the most impacted areas of that condition (for example: communication abilities, sleep, motor function, fine motor function, seizures, etc). A common example of an observational study is a natural history study where the investigator, or doctor, is trying to understand what Angelman syndrome looks like in individuals over time without a therapy. This helps to identify what the important symptoms of the condition are that might be evaluated in clinical trials of new drugs intended to treat the condition.  Sometimes treatment studies compare outcomes in patients taking a new drug to those in untreated patients from observational studies to help prove that the drug is improving symptoms of the condition beyond what would be expected as part of the natural history of the disorder.

Participate in an Observational Study

Name:
Angelman Syndrome Natural History Study
Sponsor:
Boston Children's Hospital
FAST Pillar:
Pillar 4
Status:
Recruiting
Genotype:
All
Ages:
All
NCT:
NCT04507997
Description:
(pulled from CT.gov):
The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials.
Learn More
Name:
Angelman Syndrome Natural History Study - UK
Sponsor:
University of Oxford
FAST Pillar:
Pillar 4
Status:
Recruiting
Genotype:
All
Ages:
All
NCT:
NCT05100810
Description:
(pulled from CT.gov):
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults. This will be performed by acquiring baseline measurements, and developing effective outcome measures and diagnostic tools for the syndrome, to prepare the healthcare system for forthcoming clinical trials.
Learn More
Name:
Angelman Syndrome Video Assessment (ASVA) Source Material Study (ASVA SMS)
Sponsor:
Emmes Company
FAST Pillar:
Pillar 4
Status:
Recruiting
Genotype:
All
Ages:
1+
NCT:
NCT05637697
Recruitment / Coordinator Contact:
Description:
(pulled from CT.gov):
This is a longitudinal, observational, nonrandomized, fully remote study enrolling approximately 55 participant-caregiver dyads. The study includes no treatments or interventions, and participants will not be asked to change their current treatments. The objective of this study is to gather sufficient source material videos to develop a scoring system for ASVA and to perform preliminary validation of that scoring system.
Learn More
Name:
The Global Angelman Syndrome Registry
Sponsor:
FAST - AUS
FAST Pillar:
Pillar 4
Status:
Recruiting
Genotype:
All
Ages:
All
NCT:
NCT05293184
Recruitment / Coordinator Contact:
Description:
(pulled from CT.gov):
The Global Angelman Syndrome Registry is an online patient organization driven registry to collect information about the natural history of children and adults with Angelman Syndrome. The registry will facilitate 1) recruitment for clinical trials into therapies and interventions to benefit participants with Angelman Syndrome and their families, and 2) advancement of research and best standards of care for Angelman Syndrome.

The registry is currently available in English, Spanish, Traditional Chinese and Italian.
Learn More
Name:
Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome
Sponsor:
UW Madison
FAST Pillar:
Pillar 4
Status:
Enrolling by invitation
Genotype:
Deletion, UPD, ICD
Ages:
All
NCT:
NCT05783791
Recruitment / Coordinator Contact:
Description:
(pulled from CT.gov):
The overall purpose of this project is to establish the capability of screening for Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in public health newborn screening (NBS) programs, with an aim of developing and validating a screening test for AS and PWS.
Learn More