Clinical trials: Multiple Disability
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
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Down Syndrome, Polyendocrinopathies, Autoimmune
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Trial name
- NCT02421276
- Testing
- Phlebotomy
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Down Syndrome, Balance
The Effects of Kinesiotaping on Balance in Children With Down Syndrome.
This study aimed to explore the effects of Kinesio tape applied to plantar soles on balance in children with Down Syndrome (DS). Two groups including children with DS and a group with their typically developing peers evaluated.
- Trial name
- NCT04156607
- Testing
- Kinesio taping
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Gazi University
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
Disabilities Multiple
Investigation of the Relationship Between Pulmonary Function and Muscle Strength in Athletes With Disability
To investigate the relationship between respiratory function and core muscles strength in athletes with disabilities and compare with healthy athletes.
- Trial name
- NCT03769480
- Testing
- Muscle strength evaluation and Respiratory function Tests
- Where
- Turkey (Türkiye)
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Ankara Yildirim Beyazıt University
Prader Willi Syndrome, Obesity
Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity
The problem point of the Prader-Willi Syndrome (PWS) patient is the obesity which is intense and the plasma ghrelin level which increases unusual from the recently PWS patients was discovered.
- Trial name
- NCT01404624
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Children, Disability Physical
Stakeholder Perspectives on the Need for a Digital Solution in Pediatric Rehabilitation
Introduction: Children with chronic conditions receive fragmented rehabilitative care due to the multitude of providers and structures involved, and the constant changes throughout their care and life course.
- Conditions
- Children, Disability Physical, Disabilities Multiple, Disability, Developmental
- Trial name
- ProChRehab (NCT06570148)
- Testing
- semi-directed interview or focus group
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Myotonic Dystrophy 1
Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by an expanded CTG trinucleotide repeat in the 3' untranslated region of the DMPK gene.
- Trial name
- C-DMCOS-DM1 (NCT06101940)
- Testing
- MRI scan, Electrocardiography, Pulmonary function test
- Where
- 22 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Huashan Hospital
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Down Syndrome
Oral Language in Children With Down Syndrome
The objective of this research is to verify the language of children with Down syndrome concerning lexical, syntactic and semantic aspects using MLU.
- Trial name
- NCT00952354
- Where
- Brazil
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Down Syndrome, Speech and Language Disorder
Building Sentences With Preschoolers Who Use AAC
The focus of this investigation is to compare the effectiveness of the AAC Generative Language Intervention approach to an AAC Standard of Care condition on preschool sentence productions.
- Conditions
- Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility
- Trial name
- NCT03538925
- Testing
- AAC Generative Language Intervention, Standard of Care / Business as Usual
- Where
- 2 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Down Syndrome
Augmentative and Alternative Communication (AAC) and Lexical Gain in Children With Down Syndrome
Children with Down syndrome (DS) have language development particularities that have negative effects in the communication capacity. By this way, Augmentative and Alternative Communication (AAC) is indicated to this population.
- Trial name
- NCT00689988
- Testing
- speech-language therapy with AAC intervention
- Where
- Brazil
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Behavior Problem, Development Delay
Norwalk Feasibility Study
The purpose of this study is two-fold: 1) to examine the feasibility of the Drop-In model of Family Nurture Intervention (FNI); and 2) to collect pilot data concerning the mother's response to the Drop-In model of FNI and short…
- Conditions
- Behavior Problem, Development Delay, Emotional Disturbances, Family Conflict
- Trial name
- NCT04048720
- Testing
- Family Nurture Intervention
- Where
- United States
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Columbia University
Prader Willi Syndrome, Adrenal Insufficiency
Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome
The purpose of this study is to determine presence of central adrenal insufficiency in children with Prader Willi Syndrome using low dose (1 mcg) ACTH stimulation test compared to results of overnight metyrapone test.
- Trial name
- NCT02368379
- Testing
- Low dose (1 mcg) ACTH stimulation test, Overnight metyrapone test
- Where
- United States
- Volunteers
- 23 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Intellectual Disabilities
Reading Intervention for Children With Intellectual Disabilities Who Require Augmentative and Alternative Communication
The goal of this multiple single case study with multiple randomized baseline (with four starting points and 18 measurements across time) is to conduct a reading intervention for 40 children with intellectual disabilities who…
- Trial name
- NCT05709405
- Testing
- Reading intervention
- Where
- 2 sites in Norway
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Ostfold University College
Down Syndrome, Trisomy 21
The Human Trisome Project
The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.
- Trial name
- HTP (NCT02864108)
- Where
- United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Down Syndrome
Treatment of Sleep Disturbances in School-age Children With Down Syndrome
The investigators long-term goal is to improve outcomes for children with Down syndrome (DS) and their caregivers. Towards that goal, the investigators propose a randomized clinical trial of a behavioral sleep treatment designed…
- Trial name
- NCT02996175
- Testing
- Behavioral Sleep Treatment, Standard of care sleep treatment enhanced with psychoeducation
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.