Clinical trials: X-linked Mental Retardation
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
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.
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
Cerebral Adrenoleukodystrophy (CALD)
A Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
This trial assessed the efficacy and safety of autologous cluster of differentiation 34 (CD34+) hematopoietic stem cells, transduced ex-vivo with Lenti-D lentiviral vector (also called elivaldogene autotemcel or eli-cel), for the…
- Trial name
- NCT01896102
- Testing
- Lenti-D Drug Product (eli-cel)
- Where
- 8 sites in United States, Argentina and 4 more
- Volunteers
- 32 people
- Sponsor
- Genetix Biotherapeutics Inc.
Metachromatic Leukodystrophy, Adrenoleukodystrophy
Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Evaluating the safety and efficacy of Lentiviral Hematopoietic Stem Cell Gene Therapy for advanced stage of Metachromatic Leukodystrophy and adrenoleukodystrophy.
- Trial name
- NCT02559830
- Testing
- transduced CD34+ hematopoietic stem cell
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Shenzhen Second People's Hospital
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
Rett Syndrome
Lamivudine as a Novel Clinical Effort for Rett Syndrome
Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder caused primarily by mutations in the MECP2 gene, leading to progressive impairments in motor function, communication, and behavior following an initial period of…
- Trial name
- LANCE (NCT07640503)
- Testing
- Lamivudine
- Where
- Brazil
- Volunteers
- 10 people
- Sponsor
- Maria Denise Fernandes Carvalho de Andrade
Rett Syndrome
A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome
The purpose of this study is to investigate the efficacy of fenfluramine hydrochloride (HCl) versus placebo in study participants with Rett syndrome (RTT).
- Trial name
- NCT07503444
- Testing
- fenfluramine hydrochloride
- Where
- 40 sites in United States, Belgium and 10 more
- Volunteers
- 200 people
- Sponsor
- UCB BIOSCIENCES, Inc.
Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies
Genetic Disease Gene Identification
This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips.
- Conditions
- Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia
- Trial name
- NCT00916903
- Where
- United States
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- State University of New York - Upstate Medical University
Rett Syndrome
A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome
This study will examine the potential efficacy and safety of Rett-T for core motor deficits of Rett syndrome, and will explore biological markers of safety and treatment response.
- Trial name
- NCT04041713
- Testing
- Rett-T
- Where
- Canada
- Volunteers
- 35 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Fragile X Syndrome
AFQ056 for Language Learning in Children With FXS
The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).
- Trial name
- FX-LEARN (NCT02920892)
- Testing
- AFQ056, Language Intervention
- Where
- 14 sites in United States
- Volunteers
- 110 people
- Sponsor
- Elizabeth Berry-Kravis
Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product (eli-cel) in a parent clinical study (Study ALD-102 or Study…
- Conditions
- Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD), X-Linked Adrenoleukodystrophy (X-ALD)
- Trial name
- NCT02698579
- Testing
- No interventional drug product utilized in this follow-up study
- Where
- 13 sites in United States, Argentina and 7 more
- Volunteers
- 64 people
- Sponsor
- Genetix Biotherapeutics Inc.
Mucopolysaccharidosis II
An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II
A Phase II open-label, parallel group, 2 sites (Brazil), designed to evaluate the long term safety and efficacy of study drug for the treatment of the MPS II.
- Trial name
- NCT03708965
- Testing
- JR-141
- Where
- 2 sites in Brazil
- Volunteers
- 19 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Mucopolysaccharidosis II
Long-term Follow-Up for RGX-121
RGX-121-5101 is an observational long-term follow-up study to the RGX-121-101 or RGX-121-1102 studies where participants received RGX-121, a gene therapy intended to deliver a functional copy of the iduronate-2-sulfatase gene…
- Trial name
- NCT04597385
- Testing
- Long-term Follow-Up
- Where
- 4 sites in United States, Brazil
- Volunteers
- 27 people
- Sponsor
- REGENXBIO Inc.
Cerebral Adrenoleukodystrophy (CALD)
A Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
The purpose of this study is to evaluate the efficacy and safety of Lenti-D Drug Product (also known as elivaldogene autotemcel or Skysona, hereafter referred to as eli-cel) after myeloablative conditioning with busulfan and…
- Trial name
- NCT03852498
- Testing
- Lenti-D
- Where
- 8 sites in United States, France and 4 more
- Volunteers
- 35 people
- Sponsor
- Genetix Biotherapeutics Inc.
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics
Kinky Hair Syndrome
Copper Histidine Therapy for Menkes Diseases
Menkes Disease is a genetic disorder affecting the metabolism of copper. Patient with this disease are both physically and mentally retarded. Menkes disease is usually first detected in the first 2-3 months of life.
- Trial name
- NCT00001262
- Testing
- Copper Histidine
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)