Clinical trials: X-linked Mental Retardation
Poor Responder, Severe Male Infertility
Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility
In this study the suitability of two -sequential and single step- commercially available culture media from the same brand was compared.
- Conditions
- Poor Responder, Severe Male Infertility, Embryo Development, Blastocyst
- Trial name
- NCT02575924
- Testing
- sequential medium, 1-step medium
- Where
- Italy
- Volunteers
- 24 people
- Sponsor
- European Hospital
Rett Syndrome, Neurologic Disorder
Assessment of Nutritional and Growth Status in Rett Syndrome Patients
Children with Rett syndrome are in a period of rapid growth, and proper and appropriate nutritional support is very important. Past foreign research papers it has been pointed out that most of these patients have feeding…
- Trial name
- NCT06335368
- Testing
- Nutrition and Growth Status
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Hunter Syndrome
A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
The main aim of this study is to learn more about the safety profile of Elaprase in Indian children and adults with hunter syndrome.
- Trial name
- NCT05058391
- Testing
- Elaprase
- Where
- 5 sites in India
- Volunteers
- 5 people
- Sponsor
- Takeda
ALD (Adrenoleukodystrophy), Adrenoleukodystrophy
Adrenoleukodystrophy National Registry Study
The aim of this registry to understand the natural history and disease progression in ALD and potentially develop bio-markers using the biospecimens collected using this registry.
- Conditions
- ALD (Adrenoleukodystrophy), Adrenoleukodystrophy, Cerebral Adrenoleukodystrophy
- Trial name
- NCT03789721
- Testing
- Medical Record Abstraction, Biospecimen Sample Collection
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD)
Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)
Study ALD-103 will be a multi-site, global, prospective and retrospective data collection study that is designed to evaluate outcomes of allo-HSCT in male subjects with CALD ≤17 years of age.
- Conditions
- X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
- Trial name
- NCT02204904
- Testing
- Allo-HSCT
- Where
- 13 sites in United States, Argentina and 5 more
- Volunteers
- 59 people
- Sponsor
- Genetix Biotherapeutics Inc.
Hunter Syndrome
Hunter Outcome Survey (HOS)
The purpose of this study is to collect data that will increase understanding of Hunter syndrome. The data from HOS may provide guidance to healthcare professionals about disease treatment options.
- Trial name
- HOS (NCT03292887)
- Where
- United States
- Volunteers
- 1,443 people
- Sponsor
- Shire
Mucopolysaccharidosis Type II (MPS II)
CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)
RGX-121 is a gene therapy which is intended to deliver a functional copy of the iduronate-2-sulfatase gene (IDS) to the central nervous system.
- Trial name
- NCT03566043
- Testing
- RGX-121
- Where
- 5 sites in United States, Brazil
- Volunteers
- 48 people
- Sponsor
- REGENXBIO Inc.
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
ALD (Adrenoleukodystrophy)
Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)
A randomized open-label Phase 2a study to assess the pharmacokinetics and pharmacodynamic parameters of PXL065 after 12 weeks of treatment in male subjects with adrenomyeloneuropathy (AMN).
- Trial name
- NCT05200104
- Testing
- PXL065
- Sponsor
- Poxel SA
Neurodegenerative Diseases, Leukodystrophy
Home Exercise for Individuals With Neurodegenerative Disease
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL
- Trial name
- NCT05443906
- Testing
- Home exercise
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
Fragile X Syndrome
Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome
The primary objective of this clinical trial is to evaluate efficacy of probiotic mixture which contains Lactobacillus casei, Lactobacillus salivarius and Bifidobacterium breve, in children with Fragile X aged 3-18 years.
- Trial name
- NCT06279858
- Testing
- Probiotics
- Where
- Serbia
- Volunteers
- 15 people
- Sponsor
- Specila hospital for cerebral palsy and developmental neurology
Mucopolysaccharidosis II
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type II
MPS II is a genetic disorder that affects boys. Boys with MPS II are missing a working enzyme known as iduronate-2-sulfatase (IDS) which is needed to break down long sugar chains in the body.
- Trial name
- NCT05665166
- Testing
- Autologous CD34+ HSCs transduced ex vivo with CD11B LV encoding human IDS tagged with ApoEII
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- University of Manchester
Fragile X Syndrome, Autism Spectrum Disorders
Acamprosate in Youth With Fragile X Syndrome
Fragile X syndrome (FXS) is the most common inherited form of developmental disability. FXS is inherited from the carrier parent, most often the mothers.
- Trial name
- NCT01300923
- Testing
- Acamprosate
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Indiana University
Pyruvate Dehydrogenase Complex Deficiency Disease
Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
This is a phase II, multicenter, prospective, non-comparative clinical trial to assess the efficacy and safety of the treatment of pyruvate dehydrogenase deficiency (PDH) patients with glycerol phenylbutyrate (Ravicti®).
- Trial name
- PDH-RAVICTI (NCT06887777)
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Rett Syndrome
An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome
Primary Objective: To test the hypothesis that 6 months treatment with glatiramer acetate (GA) decreases epileptiform activity in young girls with Rett syndrome.
- Trial name
- NCT02023424
- Testing
- Glatiramer Acetate (Copaxone®)
- Where
- Israel
- Volunteers
- 10 people
- Sponsor
- Sheba Medical Center
Rett Syndrome
Biomarkers in Rett Syndrome
Rett syndrome (RTT) is an X-linked genetic disorder that causes severe neurological development disorder. In its classic form, it seems to affect almost exclusively females with an incidence of up to one in 10,000 females.
- Trial name
- BIRS (NCT06346444)
- Testing
- Diagnostic test and behavioral
- Where
- 4 sites in Ireland, Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Mucopolysaccharidosis II
Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome
AGT-182 is a fusion protein containing idursulfase that is intended to deliver the enzyme peripherally and to the brain, when administered intravenously.
- Trial name
- NCT02262338
- Testing
- AGT-182
- Where
- 5 sites in United States, Germany and 1 more
- Volunteers
- 6 people
- Sponsor
- ArmaGen, Inc
Hematologic Malignancies, Inborn Errors of Metabolism Disorders
Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants
The objective of this study is to make T-cell depleted stem cells from a family member who is a half match (haplo-identical) available on an expanded access basis to patients receiving one or two unrelated cord blood transplants…
- Conditions
- Hematologic Malignancies, Inborn Errors of Metabolism Disorders, Immune Deficiencies
- Trial name
- NCT01881334
- Testing
- CliniMACS CD34 Reagent System
- Where
- United States
- Sponsor
- Joanne Kurtzberg, MD
Anxiety Disorders, Child Developmental Disorders, Pervasive
Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes
By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.
- Trial name
- NCT00879515
- Where
- United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of California, Davis