Rett syndrome
Information
- Disease name
- Rett syndrome
- Disease ID
- DOID:1206
- Description
- "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability." [url:http\://www.nichd.nih.gov/health/topics/rett_syndrome.cfm, url:http\://www.ninds.nih.gov/disorders/rett/detail_rett.htm, url:https\://medlineplus.gov/ency/article/001536.htm]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01822249 | Completed | Phase 2 | Phase 2 Study of EPI-743 for Treatment of Rett Syndrome | January 2013 | January 2014 |
| NCT00004773 | Completed | Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome | August 1995 | June 1997 | |
| NCT00004807 | Completed | N/A | Study of the Pathogenesis of Rett Syndrome | January 1995 | |
| NCT01198015 | Completed | Creatine Metabolism in Rett Syndrome | August 2010 | January 2011 | |
| NCT01253317 | Completed | Phase 1 | Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) | December 2010 | January 2013 |
| NCT01520363 | Completed | Phase 2 | Placebo Controlled Trial of Dextromethorphan in Rett Syndrome | March 2012 | October 26, 2016 |
| NCT01703533 | Completed | Phase 2 | A Safety Study of NNZ-2566 in Patients With Rett Syndrome | March 2013 | September 2014 |
| NCT01777542 | Completed | Phase 2 | Treatment of Rett Syndrome With Recombinant Human IGF-1 | January 2013 | November 2016 |
| NCT00004656 | Completed | N/A | Nutritional Aspects of Rett Syndrome | May 1993 | |
| NCT02153723 | Completed | Phase 2 | Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) | August 2013 | January 2016 |
| NCT02428673 | Completed | N/A | Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions | December 9, 2015 | March 23, 2018 |
| NCT02563860 | Completed | Phase 2 | Pharmacological Treatment of Rett Syndrome With Statins | July 2015 | July 2016 |
| NCT02670694 | Completed | Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW | June 2011 | July 2013 | |
| NCT02705677 | Completed | Biobanking of Rett Syndrome and Related Disorders | September 1, 2017 | July 31, 2021 | |
| NCT02715115 | Completed | Phase 2 | A Safety Study of NNZ-2566 in Pediatric Rett Syndrome | March 2016 | January 5, 2017 |
| NCT02738281 | Completed | Natural History of Rett Syndrome & Related Disorders | November 2015 | July 31, 2021 | |
| NCT02885090 | Completed | N/A | New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization | February 2010 | May 2011 |
| NCT03196323 | Completed | Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe) | June 1, 2017 | September 24, 2020 | |
| NCT03633058 | Completed | Phase 2 | A Study to Evaluate Ketamine for the Treatment of Rett Syndrome | March 12, 2019 | November 22, 2021 |
| NCT03758924 | Completed | Phase 2 | Study of ANAVEX2-73 in Patients With Rett Syndrome | February 28, 2019 | October 30, 2020 |
| NCT03848442 | Completed | N/A | 'Uptime' Participation Intervention in Girls and Women With Rett Syndrome | February 7, 2017 | December 15, 2017 |
| NCT03941444 | Completed | Phase 3 | ANAVEX2-73 Study in Patients With Rett Syndrome | May 6, 2019 | September 30, 2021 |
| NCT04181723 | Completed | Phase 3 | Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™) | November 6, 2019 | October 28, 2021 |
| NCT04279314 | Completed | Phase 3 | Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome | January 29, 2020 | August 19, 2022 |
| NCT04304482 | Completed | Phase 2/Phase 3 | ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome | July 1, 2020 | June 30, 2023 |
| NCT04514549 | Completed | ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME | November 23, 2020 | March 1, 2023 | |
| NCT04776746 | Completed | Phase 3 | Open-Label Extension Study of Trofinetide for Rett Syndrome | November 8, 2020 | June 30, 2023 |
| NCT04920110 | Completed | Development of the ORCA Communication Measure for Rett Syndrome | July 2, 2021 | February 10, 2022 | |
| NCT04988867 | Completed | Phase 2/Phase 3 | An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome | September 22, 2021 | May 31, 2023 |
| NCT05352373 | Completed | N/A | The Role of Dietary Calcium for the Treatment of Osteopenia in Girls With Rett Syndrome | March 1, 2008 | March 1, 2012 |
| NCT05420805 | Completed | N/A | Protective Role of Pre-/ Post-biotics on Gut Inflammation, Dysbiosis, and Life Quality in Rett Syndrome (Biotics_RTT) | April 1, 2022 | February 28, 2023 |
| NCT05488938 | Completed | N/A | Intensive Anti-Scoliosis Postural Intervention for Individuals With Rett Syndrome Supported by a Smartphone Application | April 1, 2021 | September 30, 2023 |
| NCT05687214 | Completed | N/A | Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome | November 16, 2022 | January 27, 2023 |
| NCT05691582 | Completed | N/A | Tolerability of the Immersive Virtual Reality System Grail in Subjects Affected by Rett Syndrome | July 1, 2021 | April 15, 2022 |
| NCT06335368 | Completed | Assessment of Nutritional and Growth Status in Rett Syndrome Patients | March 9, 2016 | October 26, 2020 | |
| NCT00261508 | Completed | Phase 3 | A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) | August 1999 | December 2001 |
| NCT00299312 | Completed | Genetic and Physical Characteristics of Rett Syndrome | March 2006 | October 2015 | |
| NCT00464477 | Completed | Advanced Grandparental Age as a Risk Factor for Autism | June 2007 | October 2007 | |
| NCT00630422 | Completed | Functional Abilities in Rett Syndrome | February 2006 | December 2006 | |
| NCT00786071 | Completed | Metabolic Evaluation of Nutrition in Rett Syndrome | May 2009 | October 2009 | |
| NCT00891956 | Completed | The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome | April 24, 2009 | January 13, 2016 | |
| NCT00990691 | Completed | Phase 2 | Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome | February 17, 2009 | August 21, 2017 |
| NCT01147575 | Completed | N/A | Effects of Creatine Supplementation in Rett Syndrome | January 2005 | January 2009 |
| NCT06139172 | Enrolling by invitation | N/A | Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities | September 15, 2023 | December 2026 |
| NCT03836300 | Enrolling by invitation | N/A | Parent and Infant Inter(X)Action Intervention (PIXI) | November 30, 2018 | June 30, 2025 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT05625568 | Not yet recruiting | Phase 2 | Study of VYNT-0126 in the Treatment of Rett Syndrome in Adult Patients | March 2023 | June 2024 |
| NCT06338267 | Not yet recruiting | Validation of Innovative Biosensors for Rett Autonomic Symptom Tracking | May 2024 | May 2025 | |
| NCT05606614 | Recruiting | Phase 1/Phase 2 | Safety and Efficacy of TSHA-102 in Adult Females With Rett Syndrome (REVEAL Adult Study) | March 6, 2023 | January 5, 2032 |
| NCT06199700 | Recruiting | Early Phase 1 | Esketamine for the Treatment of Rett Syndrome | November 15, 2023 | May 1, 2025 |
| NCT05740761 | Recruiting | Gene Editing as a Therapeutic Approach for Rett Syndrome | March 1, 2021 | March 1, 2024 | |
| NCT04900493 | Recruiting | The Rett Syndrome Global Registry | January 31, 2022 | June 30, 2031 | |
| NCT05932589 | Recruiting | Neurophysiologic Biomarkers in Rett Syndrome | October 11, 2023 | March 31, 2029 | |
| NCT05012475 | Recruiting | N/A | Measuring Impact of Computer Gaming on Arm Use in Rett Syndrome | May 1, 2021 | December 1, 2024 |
| NCT06346444 | Recruiting | Biomarkers in Rett Syndrome | August 3, 2020 | December 31, 2024 | |
| NCT05432349 | Recruiting | Rett Syndrome Registry | August 2, 2022 | July 2028 | |
| NCT06346106 | Recruiting | The Diagnostic Experience of Male Rett Syndrome | May 24, 2023 | April 30, 2024 | |
| NCT06152237 | Recruiting | Phase 1 | Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study) | December 12, 2023 | November 2, 2031 |
| NCT04463316 | Recruiting | GROWing Up With Rare GENEtic Syndromes | October 1, 2018 | January 1, 2030 | |
| NCT05898620 | Recruiting | Phase 1/Phase 2 | A Novel, Regulated Gene Therapy (NGN-401) Study for Female Children With Rett Syndrome | June 13, 2023 | October 2029 |
| NCT00593957 | Terminated | Phase 2 | Trial of Dextromethorphan in Rett Syndrome | August 2004 | June 2010 |
| NCT03848832 | Terminated | Phase 3 | Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome | July 29, 2019 | January 21, 2021 |
| NCT04252586 | Terminated | Phase 3 | A Long-term Safety Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome | February 28, 2020 | June 9, 2021 |
| NCT02790034 | Terminated | Phase 2/Phase 3 | Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms | October 26, 2016 | May 4, 2020 |
| NCT02562820 | Terminated | Phase 1 | An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome | November 2015 | July 2017 |
| NCT02023424 | Unknown status | Phase 1 | An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome | January 2014 | February 2015 |
| NCT03259971 | Unknown status | N/A | The Role of Probiotics PS128 in Movement Disorders | August 25, 2017 | August 20, 2021 |
| NCT04014985 | Unknown status | N/A | Patients With RETT Syndrome | September 1, 2019 | October 1, 2020 |
| NCT04041713 | Unknown status | Phase 2 | A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome | September 1, 2019 | January 31, 2021 |
| NCT04167059 | Unknown status | N/A | Telehealth Support to Increase Physical Activity in Rett Syndrome | January 1, 2020 | September 1, 2021 |
| NCT00069550 | Unknown status | Phase 3 | Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome | September 2004 | June 2008 |
| NCT02696044 | Unknown status | Phase 2 | Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin | June 2016 | February 2022 |
| NCT02903056 | Unknown status | The Findings of MR Imaging in Rett Syndrome | March 2016 | September 2017 | |
| NCT03059160 | Unknown status | Phase 2 | Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. | April 1, 2017 | August 1, 2018 |
| NCT02360436 | Withdrawn | Analysis of the Glutathione Cycle in Children With Rett Syndrome | March 31, 2015 | September 30, 2015 |
- Disase is a (Disease Ontology)
- DOID:0060040
- Cross Reference ID (Disease Ontology)
- GARD:5696
- Cross Reference ID (Disease Ontology)
- ICD10CM:F84.2
- Cross Reference ID (Disease Ontology)
- MESH:D015518
- Cross Reference ID (Disease Ontology)
- MIM:312750
- Cross Reference ID (Disease Ontology)
- MIM:613454
- Cross Reference ID (Disease Ontology)
- NCI:C75488
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:192583003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0035372
- Exact Synonym (Disease Ontology)
- cerebroatrophic hyperammonemia
- Exact Synonym (Disease Ontology)
- Rett's disorder
- OrphaNumber from OrphaNet (Orphanet)
- 778
- ICD10 preferred id (Insert disease from ICD10)
- D0004718
- ICD10 class code (Insert disease from ICD10)
- F84.2
- MeSH unique ID (MeSH (Medical Subject Headings))
- D015518