Clinical trials: Angelman Syndrome
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
Angelman Syndrome
A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome
The purpose of this study is to evaluate the safety and efficacy of MVX-220 gene therapy in children and adults with Angelman syndrome with UBE3A gene deletion, uniparental disomy, or imprinting center defect genotypes.
- Trial name
- ASCEND-AS (NCT07181837)
- Testing
- MVX-220
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- MavriX Bio, LLC
Angelman Syndrome
REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
The purpose of this study is to evaluate the efficacy and safety of obudanersen in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.
- Trial name
- NCT06914609
- Testing
- obudanersen
- Where
- 41 sites in United States, Australia and 10 more
- Volunteers
- 156 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Angelman Syndrome
A Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants
The aim of Study BP41660 is to quantify the amount and concentration of [89Zr]DFO-RO7248824 in the brain with positron emission tomography (PET) following a single sub-pharmacological dose of RO7248824 and [89Zr]DFO-RO7248824…
- Trial name
- NCT04863794
- Testing
- RO7248824
- Where
- Netherlands
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Angelman Syndrome
Long-term Extension of GTX-102 in Angelman Syndrome
The primary objective of the study is to evaluate the long-term safety profile of GTX-102 in participants with Angelman Syndrome (AS)
- Trial name
- NCT06415344
- Testing
- GTX-102
- Where
- 23 sites in United States, Australia and 6 more
- Volunteers
- 255 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Angelman Syndrome
A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome
The primary objective of the study is to evaluate the safety and tolerability of multiple-ascending doses of GTX-102 administered by intrathecal (IT) injection to participants with Angelman Syndrome (AS).
- Trial name
- NCT04259281
- Testing
- GTX-102
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 74 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Angelman Syndrome
CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS)
The primary purpose of the study is to evaluate efficacy of obudanersen in participants with AS due to uniparental disomy or imprinting defects (UPD/ID) as measured through expressive communication.
- Trial name
- NCT07782827
- Testing
- obudanersen
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Sleep Problems
Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances
There is increasing evidence that chronic sleep disorders in children with autism spectrum disorder (ASD), Angelman Syndrome (AS) and Smith-Magenis syndrome (SMS) are associated with disturbed melatonin secretion and melatonin…
- Trial name
- NCT01903681
- Testing
- Circadin 2 mg, Circadin 10 mg
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Angelman Syndrome
Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)
The primary objective of this study is to evaluate the effect of GTX-102 in cognitive function in participants with deletion-type Angelman Syndrome (AS).
- Trial name
- Aspire (NCT06617429)
- Testing
- GTX-102
- Where
- 28 sites in United States, Canada and 4 more
- Volunteers
- 129 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Angelman Syndrome
Angelman Syndrome Video Assessment (ASVA) Source Material Study
This is a longitudinal, observational, nonrandomized, fully remote study enrolling approximately 55 participant-caregiver dyads.
- Trial name
- ASVA SMS (NCT05637697)
- Where
- United States
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- The Emmes Company, LLC
Angelman Syndrome
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Angelman syndrome
- Trial name
- AS-001 (NCT05011851)
- Testing
- NNZ-2591
- Where
- 3 sites in Australia
- Volunteers
- 17 people
- Sponsor
- Neuren Pharmaceuticals Limited
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Angelman Syndrome
BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.
- Trial name
- NCT07605429
- Testing
- rugonersen
- Where
- 6 sites in United States, Taiwan
- Volunteers
- 165 people
- Sponsor
- OHB Pediatrics Ltd.
Angelman Syndrome, Chromosome 15q Duplication (dup15q) Syndrome
Angelman Syndrome (AS) Biomarker Study
The primary objective of this study is to measure ubiquitin-protein ligase E3A (UBE3A) protein levels in cerebrospinal fluid (CSF) and to evaluate its utility as a biomarker in support of the development of therapies for AS.
- Trial name
- NCT04103333
- Testing
- Lumbar Puncture, Blood Collection
- Where
- 5 sites in United States
- Volunteers
- 20 people
- Sponsor
- Biogen
Angelman Syndrome
A Study to Investigate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of RO7248824 in Participants With Angelman Syndrome (AS)
This is a phase I, multicenter, non-randomized, adaptive, open-label, multiple ascending, intra-participant, dose-escalation study with a long-term extension (LTE) part and an optional open-label extension (OOE) part.
- Trial name
- NCT04428281
- Testing
- RO7248824
- Where
- 12 sites in United States, Italy and 2 more
- Volunteers
- 74 people
- Sponsor
- Hoffmann-La Roche
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Angelman Syndrome
An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome
This open-label study (OV101-18-002) will evaluate the long-term (52 weeks) safety of OV101 in subjects with AS and provide additional OV101 treatment to those subjects who completed Study OV101-15-001 (NCT02996305).
- Trial name
- ELARA (NCT03882918)
- Testing
- OV101
- Where
- 11 sites in United States, Israel
- Volunteers
- 141 people
- Sponsor
- Healx AI
Autism Spectrum Disorder
An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
- Trial name
- Autism (NCT02226458)
- Testing
- EPI-743
- Sponsor
- Edison Pharmaceuticals Inc
Angelman Syndrome
HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome
The purpose of this study is to evaluate the safety and tolerability of ascending doses of ION582 administered intrathecally in participants with Angelman syndrome.
- Trial name
- NCT05127226
- Testing
- ION582
- Where
- 11 sites in United States, Australia and 4 more
- Volunteers
- 71 people
- Sponsor
- Ionis Pharmaceuticals, Inc.