Clinical trials: Disabilities, Intellectual
Immunodeficiency, Skeletal Abnormalities
European Alpha-Mannosidosis Participant
International, multicenter, observational, longitudinal monitoring study to investigate the prevalence of Alpha-Mannosidosis in participants at risk for Alpha-Mannosidosis.
- Conditions
- Immunodeficiency, Skeletal Abnormalities, Deafness, Mental Retardation
- Trial name
- EUMAP (NCT03651245)
- Where
- 19 sites in Germany, Switzerland
- Volunteers
- 667 people
- Sponsor
- CENTOGENE GmbH Rostock
Intellectual Disability
Characterization of Nociception Phenotype in Individuals With Intellectual Disability
Background: People with intellectual disability (ID) often have physical disabilities as well. These physical problems can affect their bones, muscles, nerves, and gastrointestinal tracts. All of these issues can also cause pain.
- Trial name
- NCT05473429
- Testing
- TSA2 Thermosensory Stimulator
- Where
- United States
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
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.
Autism Spectrum Disorder, Intellectual Disability
Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
Autism Spectrum Disorder (ASD) is the most prevalent of the developmental disorders and their incidence is rising. However, the variability in the behavioral symptoms is large.
- Trial name
- NCT02591446
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Rhode Island Hospital
Adrenoleukodystrophy
Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the efficacy of interferon beta and thalidomide in male patients with adrenoleukodystrophy who show evidence of brain inflammatory response and are receiving concurrent glyceryl trierucate and glyceryl…
- Trial name
- NCT00004450
- Testing
- glyceryl trierucate, glyceryl trioleate, interferon beta
- Volunteers
- 60 people
- Sponsor
- FDA Office of Orphan Products Development
Upper Extremity Impairments, Cerebral Palsy (CP)
Obi Medical Robot: Evaluating Effectiveness Related to Usability
This mixed-methods usability study evaluates the effectiveness of the Obi Gen 3 robotic feeding device in meeting user needs among providers, caregivers, and patients.
- Conditions
- Upper Extremity Impairments, Cerebral Palsy (CP), ALS - Amyotrophic Lateral Sclerosis, Rett Syndrome
- Trial name
- NCT07151950
- Testing
- One-week trial of Obi Medical device, which provides robotic assistance with feeding to persons with upper extremity impairments who are unable to self-feed in the traditional manner using utensils
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Desin LLC
Mucopolysaccharidoses, Mucopolysaccharidosis I
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI.
- Conditions
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV
- Trial name
- NCT01675674
- Testing
- Dried blood spot test for MPS
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- National MPS Society
Down Syndrome, Acute Lymphoblastic Leukemia
ASIA Down Syndrome Acute Lymphoblastic Leukemia 2016
To evaluate the outcome of a prednisolone and low dose methotrexate based protocol in Down syndrome children with ALL (DS-ALL) in an Asia-wide study.
- Conditions
- Down Syndrome, Acute Lymphoblastic Leukemia, Childhood Cancer
- Trial name
- NCT03286634
- Testing
- Daunorubicin, Prednisolone, Vincristine
- Where
- 10 sites in Hong Kong, Japan and 4 more
- Volunteers
- 60 people
- Sponsor
- National Hospital Organization Nagoya Medical Center
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Obstructive Sleep Apnea, Down Syndrome
Treatment of Obstructive Sleep Apnea With Personalized Surgery in Children With Down Syndrome (TOPS-DS)
The overall objective of this randomized clinical trial is to test the effectiveness of a personalized approach to the surgical treatment of OSA in children with Down syndrome (DS).The estimated prevalence of obstructive sleep…
- Trial name
- TOPS-DS (NCT05508971)
- Testing
- DISE-Directed Surgery, Adenotonsillectomy
- Where
- 7 sites in United States
- Volunteers
- 304 people
- Sponsor
- Oregon Health and Science University
Parent-Child Relations
Effects of Infant Massage on Acceptance, Commitment and Conscience of Influence of Parents With Down Syndrome Babies
This study aims to analyze whether the course of infant massage serves as a tool to improve acceptance, commitment and awareness of influence of parents of babies with Down syndrome.
- Trial name
- NCT03126734
- Testing
- Infant Massage course
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Seville
Aggression, Intellectual Disability
Reducing Aggression Among People With an Intellectual Disability
The study is an randomised controlled trial (RCT) to test whether supplementation of vitamins, minerals and n-3 fatty acids may reduce aggressive behavior in people with intellectual disabilities.
- Trial name
- PSYVB (NCT03212092)
- Testing
- Multivitamin, mineral & n-3 FA
- Where
- 7 sites in Netherlands
- Volunteers
- 137 people, healthy volunteers welcome
- Sponsor
- Leiden University Medical Center
Prader Willi Syndrome, Obsessive-compulsive Disorder
Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project
Obsessive-compulsive (OC) symptoms are often present among youth with Prader-Willi Syndrome (PWS). They are also associated with considerable problems in the daily functioning of the child and his/her family.
- Trial name
- NCT00742664
- Testing
- Cognitive-behavioral therapy, Wait-list control
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- University of South Florida
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
Down Syndrome
Effect of Aerobic Exercises on Static & Dynamic Balance
To determine the effect of aerobic exercises on static \& dynamic balance of children in Down syndrome. When a person has Down syndrome, they have an extra chromosome. In the body, chromosomes are discrete collections of genes.
- Trial name
- NCT05915780
- Testing
- Cycling, Balance Board
- Where
- Pakistan
- Volunteers
- 20 people
- Sponsor
- Riphah International University
Down Syndrome
Non-drug Study to Assess the Suitability of Assessment Scales in Japanese Individuals With Down Syndrome Aged 6-30
To evaluate the suitability (i.e. number of tests completed and number of participants completing the tests, variance estimate of baseline and of the change from baseline values) of neurocognitive tests and functioning scales in…
- Trial name
- NCT02431117
- Where
- 7 sites in Japan
- Volunteers
- 43 people
- Sponsor
- Chugai Pharmaceutical
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
Balance, Down Syndrome
Pilates Exercises and Down Syndrome
Down syndrome is one of the genetic disorders that affect postural control and balance in children. Balance involves controlling the position of the body in space to achieve stability and orientation.
- Conditions
- Balance, Down Syndrome, Pilates Exercises
- Trial name
- NCT05928949
- Testing
- pilates exercises
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Intellectual Disability
Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability
Introduction : Intellectual Disability (ID) is the most common cause of referral in the pediatric genetic centers and is characterized by an extreme genetic heterogeneity corresponding to a myriad of rare diseases that…
- Trial name
- DEFIDIAG (NCT04154891)
- Testing
- Whole Genome Sequencing
- Where
- 14 sites in France
- Volunteers
- 3,825 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Pyruvate Dehydrogenase Complex Deficiency
Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.
In this study phenylbutyrate is used for patients with pyruvate dehydrogenase complex deficiency. The aim of the study is to investigate the safety and efficacy of therapy.
- Trial name
- TIGEM2-PDH (NCT03734263)
- Testing
- sodium phenylbutyrate
- Where
- Italy
- Volunteers
- 1 people
- Sponsor
- Fondazione Telethon