Trusted research, clinical trials, and therapy updates explained in simple parent-friendly language. Summaries are based only on trusted sources and are not medical advice.
Approved treatment
This study looked at how people with Rett syndrome in the United States used trofinetide, an FDA-approved treatment, over time.
Source: Journal of medical economics
Early research
This genomic study explored the genetic roots of hair pulling (trichotillomania) and skin picking (excoriation disorder) in families, finding connections to genes involved in obsessive-compulsive disorder.
Source: Translational psychiatry
Small human study
A study compared how children with cochlear implants, children with normal hearing, and normal hearing children listening through a 'vocoder' device perceived and produced speech sounds, finding similar overall error rates but different patterns for specific sounds.
Source: Ear and hearing
Approved treatment
A study found that only about one-quarter of eligible individuals with Rett Syndrome received the newly approved medication, Trofinetide, shortly after its approval in the United States.
Source: Journal of health economics and outcomes research
Clinical trial update
Researchers have finished giving the study treatment to all 25 children in a major trial for a new gene therapy called NGN-401.
Source: ClinicalTrials.gov
Clinical trial update
A new clinical study is checking how many children have antibodies that might block gene therapy from working.
Source: ClinicalTrials.gov
Review article
Scientists recently gathered to share new findings on brain health, memory, and aging in individuals with Down Syndrome.
Source: PubMed (Neuromolecular Medicine)
Early research
This study investigated how the brains of children and teenagers with autism process visual attention, finding specific differences in brain activity when focusing on the right side compared to typically developing peers.
Source: bioRxiv : the preprint server for biology
Clinical trial update
A new clinical trial is recruiting teenagers with Down syndrome to test a medicine that may help with memory and focus.
Source: ClinicalTrials.gov
Clinical trial update
A new phase 2 clinical trial is testing a targeted medication for children with Dravet Syndrome and other SCN1A-related conditions.
Source: ClinicalTrials.gov
Gene therapy
The FDA recently hosted a workshop to find ways to get gene therapy into pediatric clinical trials sooner and more safely.
Source: U.S. Food and Drug Administration (FDA)
Gene therapy
Researchers found that a new antisense therapy can fix brain signaling issues in lab models of autism caused by SHANK mutations.
Source: Nature Communications
Small human study
Researchers found that the size of certain parts of the brain's outer layer may be linked to how well children with ADHD perform in school.
Source: PubMed (National Library of Medicine)
Review article
A recent review explains how sleep disturbances are common in Rett Syndrome and how they relate to a child's mood and behavior during the day.
Source: PubMed
Clinical trial update
New research suggests that children diagnosed with ADHD may have a higher chance of certain physical health challenges as they grow into adults.
Source: JAMA Network Open
Gene therapy
A large-scale study has identified new areas in human DNA that may be responsible for ADHD traits, providing a roadmap for future gene-based therapies.
Source: Nature Genetics
Gene therapy
A 'one-shot' viral gene therapy has been developed to restore a critical protein needed for brain development in MEF2C-related disorders.
Source: National Institutes of Health (NIH)
Clinical trial update
An international clinical trial is currently testing a new oral medication designed to help young people with Down Syndrome manage daily tasks and memory.
Source: ClinicalTrials.gov
Clinical trial update
The first clinical trial for a gene therapy targeting the SHANK3 gene is showing early signs of safety and benefit in young children.
Source: ClinicalTrials.gov
Gene therapy
A new review examines the safety of using viral vectors—tools in gene therapy—to address brain-related conditions like ADHD.
Source: NIH (National Institutes of Health)
Clinical trial update
This study is comparing two different medications, intranasal dexmedetomidine and oral midazolam, to see which works better and is safer for reducing anxiety in children aged 2-10 before elective surgery.
Source: Saglik Bilimleri Universitesi Gazi Yasargil Training and Research Hospital
Approved treatment
The World Health Organization (WHO) has released a new training program to help caregivers of children with autism manage stress and provide effective home support.
Source: World Health Organization
Gene therapy
A new technique described in 'Nature' allows for the safe insertion of large pieces of DNA into the genome, which could help deliver gene therapies for Down syndrome.
Source: Nature
Small human study
A study found that babies frequently use both single words and physical actions or gestures to communicate, and mothers are more likely to respond when these actions clearly match what the baby is saying.
Source: Infancy : the official journal of the International Society on Infant Studies
Gene therapy
A recent review for doctors highlights how new gene-based therapies are changing the way Rett Syndrome is managed.
Source: PubMed (NIH)
Review article
A 2024 expert review offers practical guidance for doctors and families on managing common digestive issues in Rett syndrome, including side effects from the newly approved medication trofinetide.
Source: Expert Review of Gastroenterology & Hepatology
Clinical trial update
This study aims to determine if an intervention supporting caregivers in using educational media with children can improve early literacy skills, comparing it to shared book reading and no intervention.
Source: ClinicalTrials.gov
Clinical trial
This project aims to create a UK-wide research network to improve the understanding and treatment of eating disorders by connecting child and adult services for better research collaboration.
Source: clinicaltrials.gov
Clinical trial update
A new pilot study is testing whether online training for doctors and therapists can improve how they use 'gait analysis' to help children walk better.
Source: PubMed
Clinical trial
This study plans to investigate if giving women an intranasal medication called dexmedetomidine before labor pain relief can help prevent postpartum depression after vaginal delivery.
Source: Chengdu Jinjiang Maternity and Child Health Hospital
Small human study
A 2023 peer-reviewed study used data from the US Rett Syndrome Natural History Study to identify the top concerns reported by caregivers of people with Rett syndrome and related disorders.
Source: Journal of Neurodevelopmental Disorders
Clinical trial update
In March 2023, the FDA approved Daybue (trofinetide) as the first-ever treatment for Rett syndrome in adults and children 2 years and older. A clinical trial showed statistically significant improvement compared to placebo.
Source: U.S. Food and Drug Administration (FDA)
Clinical trial update
A Phase 1/2/3 clinical trial is testing a one-time gene therapy called TSHA-102, delivered by spinal injection, in females ages 6 to under 22 with classic Rett syndrome.
Source: ClinicalTrials.gov — Taysha Gene Therapies, Inc.
Guideline update
A large group of medical experts created the first consensus-based care guidelines for Rett syndrome, covering the full lifespan from childhood through adulthood.
Source: BMJ Paediatrics Open
Review article
A 2019 review study found that children with Rett syndrome may show subtle signs of the condition before the well-known regression at age 2, suggesting there may be an earlier window for diagnosis and support.
Source: Neuroscience and Biobehavioral Reviews
Clinical trial update
This completed study investigated how factors like family functioning, coping methods, and perceived illness burden impact caregivers of individuals with Rett Syndrome.
Source: National Human Genome Research Institute (NHGRI)
No. We provide summaries of research and clinical trials for informational purposes. Always consult your healthcare team for medical decisions.
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