Clinical trials: Angelman Syndrome
- Condition Angelman Syndrome
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Angelman Syndrome
A Study in Adults and Adolescents With Angelman Syndrome (STARS)
The purpose of the study is to assess the safety and tolerability of oral OV101 (gaboxadol) in adult and adolescent subjects with Angelman syndrome. In addition, several exploratory efficacy outcome measures will be investigated.
- Trial name
- NCT02996305
- Testing
- OV101 Regimen 1, OV101 regimen 2
- Where
- 13 sites in United States, Israel
- Volunteers
- 88 people
- Sponsor
- Healx AI
Primary Disease or Condition Being Studied: Angelman Syndrome (AS)
A Study of OV101 in Individuals With Angelman Syndrome (AS)
The purpose of this study is to assess the efficacy and safety of oral OV101 (gaboxadol) in pediatric subjects with Angelman syndrome.
- Trial name
- NEPTUNE (NCT04106557)
- Testing
- Gaboxadol
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 104 people
- Sponsor
- Ovid Therapeutics Inc.
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
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
Angelman Syndrome
A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.
This is a two-part, Phase IIa, multicenter, 12-week, open-label study. Up to 56 participants with deletion AS aged 5-17 years (inclusive) will be enrolled in the study.
- Trial name
- Aldebaran (NCT05630066)
- Testing
- Alogabat
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 48 people
- Sponsor
- Hoffmann-La Roche
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
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.
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
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
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
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
Angelman Syndrome, Fragile X Syndrome
Single Dose Pharmacokinetic (PK) Study
The trial is a Phase 1 Single Dose PK Study in Adolescent Subjects with Fragile X syndrome (FXS) or Angelman syndrome (AS). The primary objective of the study is to evaluate the pharmacokinetics (PK) of OV101 following a single 5…
- Trial name
- NCT03109756
- Testing
- OV101
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Ovid Therapeutics Inc.
Angelman Syndrome
A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)
The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.
- Trial name
- Aurora (NCT07157254)
- Testing
- No intervention, GTX-102
- Where
- 21 sites in United States, Argentina and 6 more
- Volunteers
- 55 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Angelman Syndrome
Expanded Access/Compassionate Use of Rugonersen in Patients With Angelman Syndrome
For a patient to be considered for this EAP, they must have consented to participate in the TANGELO Optional Open-label Extension (OOE), and continue to meet the inclusion/ exclusion criteria and have not received any other…
- Trial name
- NCT07136454
- Testing
- Rugonersen
- Sponsor
- Oak Hill Bio Ltd
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
- 66 people
- Sponsor
- Ultragenyx Pharmaceutical 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, 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
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.
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.
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.