Clinical trials: Mental Retardation
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.
Fragile X Syndrome
Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)
This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive).
- Trial name
- NCT07209462
- Testing
- Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379
- Where
- 18 sites in United States, Spain
- Volunteers
- 60 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Mucopolysaccharidosis II
To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients
The purpose of this study is to evaluate the safety and efficacy of GC1111 (recombinant human iduronate-w-sulfatase) in Hunter Syndrome (Mucopolysaccharidosis II) patients
- Trial name
- NCT01301898
- Testing
- GC1111_0.5mg/kg, GC1111_1.0mg/kg, Elaprase_0.5mg/kg
- Where
- South Korea
- Volunteers
- 31 people
- Sponsor
- Green Cross Corporation
Prader-Willi Syndrome
Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome
Evaluate the efficacy and safety after treatment of Eutropin® inj. compared to Genotropin® in infants/toddlers with Prader-Willi syndrome
- Trial name
- NCT02204163
- Testing
- Eutropin, Genotropin
- Where
- 3 sites in South Korea
- Volunteers
- 34 people
- Sponsor
- LG Life Sciences
RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design.
- Trial name
- TRANSCEND (NCT07257978)
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 40 people
- Sponsor
- Fenix Innovation Group
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
To explore the efficacy, safety and tolerability of STX209 (arbaclofen) administered for the treatment of social withdrawal in adolescents and adults with fragile X syndrome (FXS)
- Trial name
- Harbor-A (NCT01282268)
- Testing
- arbaclofen
- Where
- 24 sites in United States
- Volunteers
- 125 people
- Sponsor
- Seaside Therapeutics, Inc.
Alzheimer Disease, Down Syndrome
Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD)
The primary purpose of this study is to evaluate the safety and tolerability of ION269 in adults with Down syndrome with evidence of brain amyloid positivity.
- Trial name
- NCT06673069
- Testing
- ION269
- Where
- 6 sites in United States, Spain
- Volunteers
- 1 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Hunter Syndrome
Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
As the HGT-HIT-046 (NCT01506141) and SHP609-302 (NCT02412787) studies are completed and closed, this post-trial access (PTA) program provides TAK-609 to participants in these studies for whom the benefit:risk ratio of continued…
- Trial name
- NCT05795361
- Testing
- Idursulfase-IT
- Where
- 22 sites in United States, Australia and 3 more
- Sponsor
- Takeda
Rett Syndrome
Open-Label Extension Study of Trofinetide for Rett Syndrome
To investigate the safety and tolerability of continued long-term treatment with oral trofinetide in girls and women with Rett syndrome
- Trial name
- NCT04776746
- Testing
- trofinetide
- Where
- 21 sites in United States
- Volunteers
- 77 people
- Sponsor
- ACADIA Pharmaceuticals Inc.
Down Syndrome, Edwards Syndrome
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02787486
- Testing
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Where
- 8 sites in United States
- Volunteers
- 760 people
- Sponsor
- Progenity, Inc.
Obesity, Over-weight
An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome
The purpose of this study is to evaluate the efficacy, safety, and pharmacokinetics for certain doses of beloranib in obese subjects with Prader-Willi Syndrome.
- Conditions
- Obesity, Over-weight, Prader-Willi Syndrome
- Trial name
- NCT01818921
- Testing
- ZGN-440 sterile diluent, 1.2 mg ZGN-440 for injectable suspension, 1.8 mg ZGN-440 for injectable suspension
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Zafgen, Inc.
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.
Hunter Syndrome
Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
This long-term study will provide Elaprase treatment to children enrolled in this study and will utilize data from both enrolled patients and Hunter Outcome Survey (HOS) patient registry data to conduct the primary growth…
- Trial name
- NCT02455622
- Testing
- Elaprase for intravenous (IV) infusion
- Where
- 8 sites in United States, Dominican Republic and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Down Syndrome
Non-drug Study to Evaluate the Suitability of Neurocognitive Tests and Functioning Scales for the Measurement of Cognitive and Functioning Changes in Children With Down Syndrome
The aim of this study is to assess the suitability of selected scales (floor/ceiling effects, variability, test-retest reliability) to measure cognitive function in children with Down syndrome over 6 months, and to evaluate the…
- Trial name
- NCT02451657
- Testing
- No Intervention
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 40 people
- Sponsor
- Hoffmann-La Roche
Prader-Willi Syndrome
Observational Study of VYKAT™ XR in Patients With Prader-Willi Syndrome
Prospective observational study developed to generate more evidence of the safety profile, clinical characteristics and outcomes of patients with PWS treated with VYKAT XR.
- Trial name
- NCT07450664
- Testing
- VYKAT XR
- Where
- 25 sites in United States
- Volunteers
- 200 people
- Sponsor
- Soleno Therapeutics, Inc.
Creatine Deficiency, X-linked
Observational Study of Males With Creatine Transporter Deficiency
The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of…
- Trial name
- Vigilan (NCT02931682)
- Where
- 10 sites in United States, Canada
- Volunteers
- 50 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
DCild Development Disorders, Pervasive, Autistic Disorder
A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)
The purpose of the study is to evaluate the effectiveness of an oral solution of risperidone (an antipsychotic medication) versus placebo in the treatment of behavioral symptoms in children with Pervasive Developmental Disorders…
- Conditions
- DCild Development Disorders, Pervasive, Autistic Disorder, Developmental Disabilities, Asperger Syndrome
- Trial name
- NCT00261508
- Testing
- risperidone
- Volunteers
- 80 people
- Sponsor
- Janssen-Ortho Inc., Canada
Prader-Willi Syndrome
Phase 2 Trial to Evaluate Safety and Efficacy of Setmelanotide (RM-493) in Obese Participants With Prader-Willi Syndrome
The purpose of this study was to evaluate the effects of a once daily subcutaneous injectable formulation of setmelanotide in obese participants with Prader-Willi syndrome on tolerability, weight loss, and hyperphagia-related…
- Trial name
- NCT02311673
- Testing
- Setmelanotide
- Where
- 5 sites in United States
- Volunteers
- 40 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
X-linked Adrenoleukodystrophy
Disease Progression in Women With X-linked Adrenoleukodystrophy
Observational, single-site prospective and minimally interventional study in women with X-linked adrenoleukodystrophy (ALD), conducted in France.
- Trial name
- NCT06178120
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Minoryx Therapeutics, S.L.
Hyperphagia, Prader-Willi Syndrome
ARD-101 for Treatment of PWS: The Hunger Elimination or Reduction Objective Trial
The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS). It will also teach us about the safety of ARD-101.
- Trial name
- HERO (NCT06828861)
- Testing
- ARD-101
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 68 people
- Sponsor
- Aardvark Therapeutics, Inc.