Clinical trials: Disabilities, Intellectual
Hunter Syndrome, Mucopolysaccharidosis II (MPS II)
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Study TKT024EXT was a long-term, single-arm, open-label extension of Study TKT024, a one year Phase 2/Phase 3 registration study.
- Trial name
- NCT00630747
- Testing
- Idursulfase
- Where
- 52 sites in United States, Brazil and 8 more
- Volunteers
- 94 people
- Sponsor
- Shire
Sanfilippo Syndrome
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo syndrome Type A, or Mucopolysaccharidosis (MPS) IIIA, is a rare lysosomal storage disease caused by deficiency of the enzyme heparan N-sulfatase (sulfamidase).
- Trial name
- NCT02060526
- Testing
- Recombinant human heparan N-sulfatase [rhHNS]
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Hunter Syndrome
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
Adrenoleukodystrophy
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II.
- Trial name
- NCT00004418
- Testing
- glyceryl trierucate/glyceryl trioleate
- Where
- 2 sites in United States
- Volunteers
- 126 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Prader-Willi Syndrome
Intranasal Oxytocin for Infants With Prader-Willi Syndrome
The purpose of this study is to compare the change in suck and swallow competency from baseline to morning of day 6 with intranasal oxytocin spray vs placebo in infants/children with Prader-Willi Syndrome who are in nutritional…
- Trial name
- NCT03245762
- Testing
- Oxytocin
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Florida
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
Rett Syndrome
Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
A phase 2 open label trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of severe neurological impairment in girls.
- Trial name
- NCT02153723
- Testing
- Glatiramer Acetate
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Montefiore Medical Center
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)
Down Syndrome, Refractive Errors
Dilated Versus Non-Dilated Wavefront Corrections for Patients With Down Syndrome
Individuals with Down syndrome (DS) live with visual deficits due, in part, to elevated levels of higher-order optical aberrations (HOA).
- Trial name
- NCT05059041
- Testing
- Dilated Refraction, Non-Dilated Refraction
- Where
- 2 sites in United States
- Volunteers
- 42 people
- Sponsor
- Ohio State University
Fragile X Syndrome
Trial of Minocycline to Treat Children With Fragile X Syndrome
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant.
- Trial name
- NCT01053156
- Testing
- minocycline hydrochloride
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- University of California, Davis
Down Syndrome, Cognitive Dysfunction
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17
The purpose of this study is to determine the efficacy and safety of donepezil hydrochloride (Aricept) in the treatment of the cognitive dysfunction shown by children with Down syndrome, aged 11 to 17.
- Trial name
- NCT00754052
- Testing
- Aricept (donepezil hydrochloride)
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- Eisai Inc.
Prader-Willi Syndrome
Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is one of the most common genetic causes of obesity. Obesity is a major source of morbidity and mortality in this population.
- Trial name
- NCT01444898
- Testing
- Exenatide
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital Los Angeles
Angelman Syndrome, Nervous System Diseases
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating the symptoms of AS.
- Trial name
- NCT00348933
- Testing
- Betaine, Creatine, Metafolin
- Where
- 4 sites in United States
- Volunteers
- 90 people
- Sponsor
- University of California, San Diego
Down Syndrome
Evaluating The Safety Of Donepezil Hydrochloride (Aricept) For Up To 1 Year In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome - Follow-Up To A 10-Week, Double-Blind, Placebo-Controlled Trial
The purpose of this study is to determine the safety of donepezil hydrochloride (Aricept) in children with Down syndrome who have finished the preceding 10-week, double-blind study of donepezil hydrochloride.
- Trial name
- NCT00675025
- Testing
- Donepezil hydrochloride (Aricept)
- Where
- 31 sites in United States
- Volunteers
- 117 people
- Sponsor
- Eisai Inc.
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.
Hunter Syndrome
Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in…
- Trial name
- NCT00937794
- Testing
- Neurobehavioral testing, Visual and auditory assessments
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Shire
Respiratory Syncytial Virus Infection
Synagis® Liquid 50mg, 100mg for Intramuscular Injection Special Investigation in Immunocompromised Children With Synagis®
This post marketing observational study (PMOS) was conducted in Japan during the 2013-2014 and 2014-2015 Respiratory Syncytial Virus (RSV) seasons to assess the safety and effectiveness of palivizumab for the prevention of…
- Trial name
- NCT02016690
- Volunteers
- 312 people
- Sponsor
- AbbVie
Down Syndrome
Assessing Malleability of Spatial Abilities in Down Syndrome
Based on available literature and our own preliminary research, the researchers have concluded that persons with Down syndrome (DS) exhibit difficulties in utilizing the specific spatial abilities of mental rotation and…
- Trial name
- NCT05332912
- Testing
- Spatial Ability Experience
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- University of Alabama, Tuscaloosa
Down Syndrome, Postural Balance
Balance Bike Training in Down Syndrome
Background: Children with Down syndrome (DS) present with hypotonia, impaired balance and poor gross motor proficiency which lead to difficulty learning new motor skills, decreased engagement in physical activity, and limited…
- Trial name
- NCT03677245
- Testing
- Strider Balance Bike
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of Mississippi Medical Center