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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.
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
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
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
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
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
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.