Clinical trials: Rett Syndrome
Tuberous Sclerosis Complex
Studies in Patients With Tuberous Sclerosis Complex
This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected…
- Trial name
- NCT03276195
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Translational Genomics Research Institute
Rett Syndrome
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome. II.
- Trial name
- NCT00004773
- Volunteers
- 95 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Autistic Disorder, Pervasive Developmental Disorder
Advanced Grandparental Age as a Risk Factor for Autism
The Division of Medical Genetics at the University of Mississippi Medical Center is recruiting parents of children with a pervasive developmental disorder (including autism, autistic spectrum disorder, PDD-NOS, Asperger syndrome…
- Conditions
- Autistic Disorder, Pervasive Developmental Disorder, Asperger Syndrome, Childhood Disintegrative Disorder
- Trial name
- NCT00464477
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Mississippi Medical Center
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals…
- Conditions
- Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome
- Trial name
- NCT06139172
- Testing
- Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- Rush University Medical Center
Rett Syndrome
A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.
- Trial name
- NCT05898620
- Testing
- NGN-401
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 33 people
- Sponsor
- Neurogene Inc.
Osteopenia, Spinal Muscular Atrophy
Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
Children with neuromuscular disabilities and limited ambulation are at significant risk for decreased bone mineral density (BMD) and increased incidence of fracture.
- Conditions
- Osteopenia, Spinal Muscular Atrophy, Cerebral Palsy, Muscular Dystrophy
- Trial name
- NCT02428673
- Testing
- Assisted Standing Treatment Program
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Gillette Children's Specialty Healthcare
Rett Syndrome
Treatment of Rett Syndrome With Recombinant Human IGF-1
Investigators are recruiting children for a clinical trial using the medication recombinant human IGF-1 (a.k.a. mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT).
- Trial name
- NCT01777542
- Testing
- Recombinant Human Insulin Growth Factor 1 (rhIGF-1)
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Boston Children's Hospital
Rett Syndrome
Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
The investigators are recruiting children for a research study using a medication known as IGF-1 (mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT).
- Trial name
- NCT01253317
- Testing
- rhIGF-1
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Rett Syndrome
ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome
ANAVEX2-73-RS-003 is a Phase 2/3, double-blind, randomized, placebo-controlled dose escalation safety, tolerability and efficacy study in patients 5-17 years of age with RTT using endpoints including multiple clinical and…
- Trial name
- EXCELLENCE (NCT04304482)
- Testing
- ANAVEX2-73 oral liquid
- Where
- 12 sites in Australia, Canada and 1 more
- Volunteers
- 92 people
- Sponsor
- Anavex Life Sciences Corp.
Rett Syndrome
Trial of Dextromethorphan in Rett Syndrome
Increased brain glutamate and its N-methyl-D-aspartate (NMDA) receptors found in the brain of younger Rett syndrome (RTT) patients cause toxic damage to neurons (the brain's nerve cells), and contributing to EEG spikes.
- Trial name
- NCT00593957
- Testing
- Dextromethorphan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Rett Syndrome
Study of VYNT-0126 in the Treatment of Rett Syndrome in Adult Patients
This is an exploratory, Phase 2, multicenter, double-blind, parallel-group, placebo-controlled study to assess the safety, tolerability, and efficacy of oral treatment with VYNT-0126 in female subjects 18-45 years of age with…
- Trial name
- NCT05625568
- Testing
- VYNT-0126
- Volunteers
- 48 people
- Sponsor
- Vyant Bio
Rett Syndrome
Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
Rett syndrome (RTT) is a disorder in which the nervous system does not develop properly. RTT generally affects girls, but there are some boys who have been diagnosed with RTT.
- Trial name
- NCT00069550
- Testing
- dextromethorphan, donepezil hydrochloride
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Rett Syndrome
Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin
The aim of this study is to evaluate the safety and tolerability of triheptanoin in participants with Rett syndrome using laboratory values, electrocardiogram, rate of adverse events (AE), and physical exam.This study also seeks…
- Trial name
- NCT02696044
- Testing
- triheptanoin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Center for Rare Neurological Diseases, Norcross, GA
Rett Syndrome, MECP2 Duplication dIsorder
Natural History of Rett Syndrome & Related Disorders
The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT including the…
- Conditions
- Rett Syndrome, MECP2 Duplication dIsorder, CDKL5 Disorder, FOXG1 Syndrome
- Trial name
- NCT02738281
- Where
- 14 sites in United States
- Volunteers
- 1,044 people
- Sponsor
- University of Alabama at Birmingham
Rett Syndrome
Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
This is a single-center, exploratory, open-label study in 10 girls diagnosed with Rett Syndrome. The study will consist of the following 4 parts: Screening/Baseline run-in, Titration/Dose-Setting, Treatment, and Washout/Follow-up.
- Trial name
- UX007 (NCT03059160)
- Testing
- Tridecanoic Acid
- Volunteers
- 10 people
- Sponsor
- Sheba Medical Center
Rett Syndrome
Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)
The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome.
- Trial name
- NCT06152237
- Testing
- TSHA-102
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 6 people
- Sponsor
- Taysha Gene Therapies, Inc.
Rett Syndrome
Tolerability of the Immersive Virtual Reality System Grail in Subjects Affected by Rett Syndrome
The main goal of this study is to investigate the tolerability to the use of the GRAIL system in subjects affected by Rett syndrome, particularly referred to: 1.
- Trial name
- NCT05691582
- Testing
- GRAIL
- Where
- Italy
- Volunteers
- 9 people
- Sponsor
- IRCCS Eugenio Medea
Rett Syndrome
Cognitive Function in Rett Syndrome During Trofinetide Treatment
Assessing cognitive functions among individuals with severe intellectual and developmental disabilities (IDD), including RTT, is often challenging due to floor effects of many standardized assessment batteries in this population.
- Trial name
- NCT06705816
- Testing
- None interventional
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Minnesota
Rett Syndrome
Effects of Creatine Supplementation in Rett Syndrome
Creatine supplementation in RTT: a randomized controlled trial Rett Syndrome (RTT) is a neurodevelopmental disorder characterised by apparently normal early development (stage 1 of RTT) followed by loss of purposeful hand use…
- Trial name
- NCT01147575
- Testing
- Creatine monohydrate
- Where
- Austria
- Volunteers
- 21 people
- Sponsor
- Medical University of Vienna
Rett Syndrome
New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization
Rett syndrome (RTT) is a genetic encephalopathy and the typical form is caused by mutations in the gene MECP2. It is a genetically heterogeneous pathology.
- Trial name
- RETT (NCT02885090)
- Testing
- Blood sampling
- Where
- 9 sites in France
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France