Angelman syndrome
Information
- Disease name
- Angelman syndrome
- Disease ID
- DOID:1932
- Description
- "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance." [url:https\://en.wikipedia.org/wiki/Angelman_syndrome, url:https\://ghr.nlm.nih.gov/condition/angelman-syndrome#genes, url:https\://research.nhgri.nih.gov/atlas/condition/angelman-syndrome]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04428281 | Active, not recruiting | Phase 1 | A Study To Investigate The Safety, Tolerability, Pharmacokinetics And Pharmacodynamics Of RO7248824 In Participants With Angelman Syndrome | August 19, 2020 | August 3, 2024 |
| NCT04259281 | Active, not recruiting | Phase 1/Phase 2 | A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome | February 24, 2020 | December 2025 |
| NCT05127226 | Active, not recruiting | Phase 1/Phase 2 | HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome | December 22, 2021 | March 2029 |
| NCT00829439 | Completed | Phase 1 | Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome | January 2009 | June 2010 |
| NCT01281475 | Completed | Phase 2/Phase 3 | A Trial of Levodopa in Angelman Syndrome | January 2011 | July 2015 |
| NCT01531582 | Completed | N/A | Minocycline in the Treatment of Angelman Syndrome | April 2012 | September 2015 |
| NCT02056665 | Completed | Phase 2 | Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome | January 2014 | November 2014 |
| NCT02381457 | Completed | SNP-based Microdeletion and Aneuploidy RegisTry (SMART) | April 2015 | June 2020 | |
| NCT02670694 | Completed | Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW | June 2011 | July 2013 | |
| NCT02996305 | Completed | Phase 2 | A Study in Adults and Adolescents With Angelman Syndrome (STARS) | January 2016 | August 6, 2018 |
| NCT03109756 | Completed | Phase 1 | Single Dose Pharmacokinetic (PK) Study | April 3, 2017 | November 28, 2017 |
| NCT03235037 | Completed | N/A | Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome | November 26, 2013 | February 1, 2019 |
| NCT03358823 | Completed | Study on the Brain Network of Angelman Syndrome | May 20, 2017 | May 20, 2019 | |
| NCT03644693 | Completed | N/A | Nutritional Formulation for Angelman Syndrome | November 1, 2018 | January 15, 2020 |
| NCT03650569 | Completed | Italian Angelman Syndrome Registry Protocol | February 16, 2018 | February 16, 2022 | |
| NCT04103333 | Completed | Early Phase 1 | Angelman Syndrome (AS) Biomarker Study | December 18, 2019 | January 2, 2022 |
| NCT00004351 | Completed | Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes | September 1999 | ||
| NCT00296764 | Completed | Characterization of Angelman Syndrome | February 2006 | August 2014 | |
| NCT00348933 | Completed | N/A | Dietary Supplements for the Treatment of Angelman Syndrome | July 2006 | February 2010 |
| NCT04863794 | Completed | Phase 1 | A Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants | April 29, 2021 | August 1, 2022 |
| NCT05637697 | Completed | Angelman Syndrome Video Assessment (ASVA) Source Material Study | August 31, 2021 | August 1, 2023 | |
| NCT05783791 | Completed | Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome | April 20, 2023 | July 21, 2023 | |
| NCT06139172 | Enrolling by invitation | N/A | Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities | September 15, 2023 | December 2026 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT03836300 | Enrolling by invitation | N/A | Parent and Infant Inter(X)Action Intervention (PIXI) | November 30, 2018 | June 30, 2025 |
| NCT06415344 | Not yet recruiting | Phase 3 | Long-term Extension of GTX-102 in Angelman Syndrome | August 2024 | February 2029 |
| NCT05293184 | Recruiting | The Global Angelman Syndrome Registry | September 28, 2016 | December 31, 2099 | |
| NCT05630066 | Recruiting | Phase 2 | Study to Investigate the Pharmacokinetics 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. | July 27, 2023 | September 12, 2025 |
| NCT06353620 | Recruiting | Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy | February 13, 2024 | February 28, 2027 | |
| NCT05945576 | Recruiting | IDMet (RaDiCo Cohort) (RaDiCo-IDMet) | March 10, 2017 | March 10, 2032 | |
| NCT06115109 | Recruiting | Angelman Natural History Study - FAST Spain | December 1, 2023 | July 1, 2025 | |
| NCT06229769 | Recruiting | Natural History Study for Patients With Angelman Syndrome | October 10, 2021 | January 2028 | |
| NCT04507997 | Recruiting | Angelman Syndrome Natural History Study | August 1, 2018 | August 2025 | |
| NCT06337383 | Recruiting | Study of the Prevalence of Autistic Traits in Angelman Syndrome | March 15, 2022 | June 2024 | |
| NCT05011851 | Recruiting | Phase 2 | An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome | July 12, 2022 | June 30, 2024 |
| NCT05100810 | Recruiting | Angelman Syndrome Natural History Study-FAST UK | November 1, 2021 | December 31, 2024 | |
| NCT04768803 | Recruiting | Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity | June 10, 2021 | December 15, 2023 | |
| NCT03882918 | Terminated | Phase 3 | An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome | January 31, 2019 | June 30, 2021 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:5810
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q93.51
- Cross Reference ID (Disease Ontology)
- MESH:D017204
- Cross Reference ID (Disease Ontology)
- MIM:105830
- Cross Reference ID (Disease Ontology)
- NCI:C75462
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:76880004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0162635
- Exact Synonym (Disease Ontology)
- happy puppet syndrome
- Exact Synonym (Disease Ontology)
- puppetlike syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 72
- MedGen concept unique identifier (MedGen Concept name)
- C0162635
- MedGen unique identifier (MedGen Concept name)
- 58144
- MeSH unique ID (MeSH (Medical Subject Headings))
- D017204