Clinical trials: Angelman Syndrome
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
Nutritional Formulation for Angelman Syndrome
Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have been shown to be effective in treating drug resistant seizures in children with Angelman syndrome (AS).
- Trial name
- FANS (NCT03644693)
- Testing
- Nutritional Formulation Containing Exogenous Ketones
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Colorado, Denver
Angelman Syndrome
A Trial of Levodopa in Angelman Syndrome
This study is designed to determine whether levodopa will lead to an improvement in the development and tremor in children with Angelman syndrome (AS).
- Trial name
- NCT01281475
- Testing
- Levodopa
- Where
- 7 sites in United States
- Volunteers
- 67 people
- Sponsor
- Wen-Hann Tan
Angelman Syndrome
Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome
The purpose of this study is to evaluate the safety and effectiveness (how well a drug works) of Carbidopa/levodopa (Sinemet) in individuals with Angelman syndrome.
- Trial name
- NCT03235037
- Testing
- Levodopa
- Volunteers
- 10 people
- Sponsor
- Bennett Lavenstein
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
Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
This study is designed to determine the highest dose of levodopa/carbidopa that can be tolerated without any serious side effects by children with Angelman syndrome.
- Trial name
- NCT00829439
- Testing
- Levodopa/Carbidopa (4:1)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Boston Children's Hospital
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Angelman Syndrome
Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
RANDOMIZED CLINICAL TRIAL, PLACEBO COMPARED TO EVALUATE THE EFFICACY AND SAFETY OF MINOCYCLINE IN ANGELMAN SYNDROME (A-MANECE STUDY)
- Trial name
- A-MANECE (NCT02056665)
- Testing
- MINOCYCLINE
- Where
- Spain
- Volunteers
- 32 people
- Sponsor
- Puerta de Hierro University Hospital
Natural Pregnancy, Pregnancy, Ovarian
Genomic Imprinting and Assisted Reproductive Technologies
Genomic imprinting, referring to an epigenetic marking resulting in monoallelic gene expression, plays a critical role in development.
- Trial name
- EPIGEN (NCT00773825)
- Where
- France
- Volunteers
- 542 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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, Nervous System Diseases
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating the symptoms of AS.
- Trial name
- NCT00348933
- Testing
- Betaine, Creatine, Metafolin
- Where
- 4 sites in United States
- Volunteers
- 90 people
- Sponsor
- University of California, San Diego
Williams Syndrome, Angelman Syndrome
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II.
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome
- Trial name
- NCT00004351
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)