Clinical trials: Disabilities, Intellectual
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Fragile X Syndrome
Trial of Sertraline to Treat Children With Fragile X Syndrome
This study is a control trial of sertraline (Zoloft) in fragile X syndrome children aged 2 years to 5 years 8 months old. The trial is six months long, and each participant will receive a series of tests at both the beginning and…
- Trial name
- NCT01474746
- Testing
- Sertraline
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Randi J. Hagerman, MD
Fragile X Syndrome
A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome
The purpose of this study is to determine the effectiveness and tolerability of aripiprazole in the treatment of children and adolescents with Fragile X Syndrome.
- Trial name
- NCT00420459
- Testing
- Aripiprazole
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Indiana University
Down Syndrome
Promoting Health Through Parent Empowerment and the Activation of Routines (PrO-PEAR)
This study will examine the feasibility of the Promoting Health through Parent Empowerment and the Activation of Routines (Pro-PEAR) intervention using a open case-series for intervention optimization followed by a pilot RCT in…
- Trial name
- Pro-PEAR (NCT05020366)
- Testing
- Promoting Health through Parent Empowerment and the Activation of Routines, Enhanced Usual Care
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Pittsburgh
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire
Down Syndrome, Obstructive Sleep Apnea Syndrome
Obstructive Sleep Apnea and Neurocognitive and Cardiovascular Function in Children With Down Syndrome
Many individuals with Down syndrome (DS) have breathing problems during sleep. This is called obstructive sleep apnea syndrome (OSAS).
- Trial name
- TRIO (NCT01808508)
- Testing
- Continuous positive airway pressure
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Children's Hospital of Philadelphia
Prader-Willi Syndrome
A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome
The objective of this study is to assess the long-term safety and tolerability of Cannabidiol Oral Solution (CBD) in participants with Prader-Willi Syndrome.
- Trial name
- NCT03458416
- Testing
- Cannabidiol Oral Solution
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Radius Pharmaceuticals, Inc.
Language Development Disorders, Down Syndrome
Strategies for Teaching Verbs
This study is designed to evaluate whether children with Down syndrome and children with typical development exhibit different levels of accuracy demonstrating novel verbs taught under three conditions: semantic cues (perform…
- Conditions
- Language Development Disorders, Down Syndrome, Child Language
- Trial name
- NCT03441685
- Testing
- Semantic cues (perform action), syntactic cues (sentence frame), or combined semantic and syntactic cues
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Sjögren-Larsson Syndrome
A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)
This is a multi-center, randomized, double-blind, vehicle-controlled, parallel-group study designed to evaluate the safety, pharmacokinetic (PK), and exploratory activity of topically-applied NS2 dermatologic cream administered…
- Trial name
- NCT02402309
- Testing
- Active topical NS2 1% dermatologic cream
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Aldeyra Therapeutics, Inc.
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
Down Syndrome
Gait in Children With Down Syndrome While Wearing Orthoses
On average, Down syndrome (DS) occurs once in every 700 live births and results in life-long disability and increased risk for comorbidities.1 Individuals with DS are also susceptible to secondary physical impairments and…
- Trial name
- NCT01598350
- Testing
- Supramalleolar Orthoses (Cascade)
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Puget Sound
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Clinical Trial of Growth Hormone in MPS I, II, and VI
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT00748969
- Testing
- Somatropin (DNA origin)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
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
Smith-Lemli-Opitz Syndrome
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS).
- Trial name
- NCT00064792
- Testing
- Simvastatin Susp., OraPlus
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Forbes Porter, M.D.
Developmental Disabilities, Weight Loss
Weight Management for Adolescents With IDD
The goal of this study is to explore the impact of two different diets (conventional vs. enhanced stop light) and two different delivery systems (face-to-face vs.
- Conditions
- Developmental Disabilities, Weight Loss, Body Weight, Down Syndrome
- Trial name
- IDDAdol (NCT02561754)
- Testing
- Enhanced Stop Light Diet (eSLD), Conventional Diet (CD), Face-to-face (FTF)
- Where
- 2 sites in United States
- Volunteers
- 110 people
- Sponsor
- University of Kansas Medical Center
Rett Syndrome, RTT
A Long-term Safety Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
This study will be conducted to evaluate the long-term safety of cannabidiol oral solution (GWP42003-P, CBD-OS) in participants with Rett syndrome.
- Trial name
- NCT04252586
- Testing
- GWP42003-P
- Where
- 31 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- Jazz Pharmaceuticals
Hypofibrinogenemia, Afibrinogenemia
Human Fibrinogen Concentrate in Pediatric Cardiac Surgery
The goal of the study is to determine whether the use of Human Fibrinogen Concentrate (RiaSTAP) will decrease blood loss and the need for component blood therapy in neonates and infants undergoing cardiopulmonary bypass.
- Conditions
- Hypofibrinogenemia, Afibrinogenemia, Bleeding Disorders
- Trial name
- RiaSTAP (NCT02822599)
- Testing
- RiaStAP, Saline
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Down Syndrome, Subclinical Hypothyroidism
Treatment Trial of Subclinical Hypothyroidism in Down Syndrome
The purpose of this research study is to learn about the effects of treating subclinical hypothyroidism (SCH) with thyroid hormone replacement in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01832753
- Testing
- Levothyroxine
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital of Philadelphia
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota