Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)
The REVEAL Pediatric Study is an early-stage clinical trial investigating a new gene therapy called TSHA-102 for young girls with Rett Syndrome, aged between 5 and 8 years old. This study is being conducted in multiple medical centres and is 'open-label', meaning both the doctors and the families will know which treatment is being given. Researchers want to understand if TSHA-102 is safe, how well children tolerate it, and if it shows any signs of improving their condition. They will look at two different dose levels of the treatment. The study will follow children for up to six years to monitor the long-term effects. This research could help bring new treatment options for girls living with Rett Syndrome.
A colpo d'occhio
Di cosa tratta questo studio?
This study, called the REVEAL Pediatric Study, is focusing on a new type of medicine called a gene therapy, known as TSHA-102. Rett Syndrome is a serious genetic condition that affects the brain and mostly impacts girls. It's caused by a faulty MECP2 gene, which is important for brain development. Gene therapy aims to correct this problem by delivering a healthy version of the gene.
The main goal of this particular study is to find out if TSHA-102 is safe for girls with Rett Syndrome and how well their bodies cope with the treatment. Researchers will also be looking for any signs that the treatment might be helping with the symptoms of Rett Syndrome. Because this is an early-stage study, it's about gathering important information on safety and initial effectiveness, rather than being a full test of whether the medicine works perfectly.
The study is designed to involve girls aged 5 to 8 years old. They will explore two different amounts, or 'dose levels', of the TSHA-102 treatment. By studying these different doses, the researchers hope to learn which amount might be best. The children taking part will be looked after and monitored for quite a long time – up to six years – to understand the full picture of how the treatment affects them over time. This long-term follow-up is very important for understanding any potential lasting effects.
Punti chiave
- This study is for girls aged 5-8 with a specific diagnosis of Rett Syndrome.
- It tests a new gene therapy called TSHA-102, given via a spinal injection.
- The main goals are to check the treatment's safety and early effectiveness.
- Participation involves regular medical checks and assessments for up to six years.
- There's no guarantee of benefit, and potential risks will be discussed fully.
Chi può essere idoneo?
To be considered for this study, a girl must have a clear diagnosis of a specific type of Rett Syndrome (called 'classical' or 'typical') caused by a confirmed fault in the MECP2 gene. She needs to be between 5 and 8 years old when she's first included in the study. All her routine vaccinations must be up to date, and she must have had her last vaccination at least 42 days before starting the study treatment. Her parent or guardian must also agree to allow her to receive blood transfusions if needed during the study for safety reasons.
There are also some reasons why a girl might not be able to join. For example, if she has another brain condition or genetic illness that causes different or ongoing problems, or if she had significant developmental delays very early in her life (before 6 months old). Girls with a different type of Rett Syndrome ('atypical') or those whose MECP2 gene fault doesn't cause Rett Syndrome are also not eligible. Additionally, if a girl needs help breathing with a machine, has certain serious infections like hepatitis B or C, or has other medical conditions that would make the study treatment or necessary procedures unsafe for her, she wouldn't be able to participate.
Questo studio potrebbe fare al caso tuo?
Rispondi a queste domande rapide per vedere se potresti essere idoneo. Questo è solo una guida — il team di ricerca prende la decisione finale.
- Is your daughter a girl aged between 5 and 8 years old?
- Does she have a confirmed diagnosis of classical/typical Rett Syndrome, with a known MECP2 gene fault?
- Are her routine vaccinations all up to date?
- Does she NOT have other serious underlying health conditions or brain injuries that cause problems?
- Does she NOT require breathing support from a machine?
Cosa comporta la partecipazione?
If a child takes part in this study, they will receive the investigational gene therapy, TSHA-102. This treatment is given directly into the fluid surrounding the brain and spinal cord through a procedure called a lumbar puncture. Before and after receiving the treatment, the child will have various medical appointments and tests. These will include physical examinations, blood tests, and assessments to see how the treatment might be affecting their symptoms and overall health. The study involves regular check-ups and monitoring over a long period, up to six years. Over this time, healthcare professionals will carefully watch for any side effects and will assess any changes in the child's development and abilities. The specific schedule of visits and tests will be explained in detail by the study team.
Rischi e benefici potenziali
Luoghi (5)
- Rush University Medical Center & Children's HospitalCodice postale verificatoChicago, Stati Uniti
- Gillette Children's Specialty HealthcareCodice postale verificatoSaint Paul, United States
- Washington University, St. LouisCodice postale verificatoSt Louis, Stati Uniti
- CHU Ste-JustineCodice postale verificatoMontreal, Canada
- Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation TrustCodice postale verificatoLondra, Regno Unito
Domande comuni
What is gene therapy?
Gene therapy is a new type of medicine that aims to correct problems caused by faulty genes. In this study, it's designed to provide a healthy copy of the MECP2 gene.
What does 'Phase 1/2' mean?
Phase 1 and 2 are early stages of clinical trials. Phase 1 focuses on safety, and Phase 2 looks at both safety and if the treatment shows signs of working. This study combines both stages.
Will my child get the actual treatment or a dummy treatment?
In this specific study, it's an 'open-label' design, meaning all participants will receive the active investigational treatment, TSHA-102, at one of the two doses being tested.
Quanto durerà lo studio?
Children who join this study will be monitored for up to six years to understand the long-term effects of the treatment. There will be regular check-ups during this time.
Can we stop participating if we change our minds?
Yes, you can withdraw your child from the study at any time, for any reason, without it affecting their regular medical care.
Come saperne di più
Parla sempre con il tuo medico di base o specialista prima di decidere di partecipare a uno studio.
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