Clinical trials: X-linked Mental Retardation
Rett Syndrome, RTT
Neurophysiologic Biomarkers in Rett Syndrome
The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are: Do these biomarkers change during clinical changes in individuals with…
- Conditions
- Rett Syndrome, RTT, Rett Syndrome, Atypical
- Trial name
- NCT05932589
- Testing
- EEG and Auditory and Visual Evoked Potentials (AEP and VEP), Clinical assessment
- Where
- 6 sites in United States
- Volunteers
- 222 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
X-linked Adrenoleukodystrophy
A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
In this pilot study, the investigators will assess the safety of two high-dose regimens of oral vitamin D supplementation and measure the effects of vitamin D supplementation on markers of oxidative stress and inflammation in the…
- Trial name
- NCT02595489
- Testing
- vitamin D3
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Stanford University
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.
Pyruvate Dehydrogenase Complex Deficiency
Expanded Access Treatment Protocol With DCA for Patients With PDCD
Expanded Access (EA) will provide a transition to continue therapy for those patients who are currently in the open label extension of the Phase III study, SL 1009-01, while also allowing new patients diagnosed with PDCD who meet…
- Trial name
- NCT06931262
- Testing
- Dichloroacetate (DCA)
- Sponsor
- Saol Therapeutics Inc
Fragile X Syndrome
A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome
The purpose of this study is to determine whether NNZ-2566 is safe and well tolerated in the treatment of Fragile X Syndrome in adolescent and adult males.
- Trial name
- NCT01894958
- Testing
- NNZ-2566
- Where
- 17 sites in United States
- Volunteers
- 72 people
- Sponsor
- Neuren Pharmaceuticals Limited
Lesch-Nyhan Syndrome
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism.
- Trial name
- NCT05548751
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people
- Sponsor
- Uskudar University
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Rett Syndrome
Measuring Impact of Computer Gaming on Arm Use in Rett Syndrome
Using a tele-research approach, we will recruit, enroll, guide and support carers and participants to engage in computer based activities (modified virtual reality) with the primary outcome of reducing stereotypies and increasing…
- Trial name
- NCT05012475
- Testing
- Modified Virtual Reality Gaming
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Georgetown University
Rett Syndrome
Validating Innovative Biosensors for Rett Autonomic Symptom Tracking
The VIBRANT study aims to validate biosensors to objectively and directly measure symptoms in Rett syndrome and create confidence in the use of these devices in clinical trials.
- Trial name
- VIBRANT (NCT06338267)
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Rett Syndrome Research Trust
Rett Syndrome
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Background: Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females.
- Trial name
- NCT00891956
- Where
- 3 sites in United States
- Volunteers
- 426 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Fragile X Syndrome
Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
This Phase IIb study is designed to assess whether 3 doses of AFQ056 are safe and effective in treating the behavioral symptoms of Fragile X Syndrome.
- Trial name
- NCT01357239
- Testing
- AFQ056
- Where
- 38 sites in United States, Australia and 14 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
Rett Syndrome, MECP2 Duplication Disorder
Genetic and Physical Characteristics of Rett Syndrome
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2.
- Conditions
- Rett Syndrome, MECP2 Duplication Disorder, Rett-related Disorder
- Trial name
- NCT00299312
- Where
- 11 sites in United States
- Volunteers
- 10 people
- Sponsor
- University of Alabama at Birmingham
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome
Metformin in Patients With Fragile X
The purpose of this trial is to investigate the use of metformin in the treatment of Fragile X syndrome (FXS) patients. Metformin is an FDA approved compound with an established safety profile and minimal side effects that…
- Trial name
- NCT04141163
- Testing
- Metformin
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Rowan University
Rett Syndrome, RTT
The Diagnostic Experience of Male Rett Syndrome
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome.
- Trial name
- NCT06346106
- Testing
- Male Rett
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Children's Hospital Colorado
Menkes Disease, Occipital Horn Syndrome
Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Menkes disease and occipital horn syndrome are two forms of copper deficiency that must be diagnosed and treated very early in life to prevent serious developmental problems.
- Conditions
- Menkes Disease, Occipital Horn Syndrome, Unexplained Copper Deficiency
- Trial name
- NCT00811785
- Testing
- Copper Histidine
- Where
- United States
- Volunteers
- 93 people
- Sponsor
- Cyprium Therapeutics, Inc.
Autism Spectrum Disorder, Fra(X) Syndrome
Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome.
- Trial name
- NCT04869930
- Testing
- specimen collection
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Nova Mentis Life Science Corp
Fragile X Syndrome
A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
This study is a multisite, randomized, double-blind, placebo-controlled, phase 2 study of MG01CI (low dose and high dose once daily) for 6 weeks compared with placebo in a 1:1 ratio of 60 adolescent and adult subjects with…
- Trial name
- NCT02126995
- Testing
- MG01CI extended-release tablet
- Where
- 12 sites in United States, Israel
- Volunteers
- 62 people
- Sponsor
- Alcobra Ltd.
Fragile X Syndrome
Cognitive Training for Fragile X Syndrome
Individuals with fragile X syndrome (FXS) demonstrate profound executive function deficits that interfere with learning, socialization and emotion regulation.
- Trial name
- NCT02747394
- Testing
- Working Memory Training
- Where
- United States
- Volunteers
- 106 people
- Sponsor
- University of California, Davis