Clinical trials: Genetics Syndrome
Genetic Disease, Chopra-Amiel-Gordon Syndrome
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the…
- Conditions
- Genetic Disease, Chopra-Amiel-Gordon Syndrome, CAGS, ANKRD17
- Trial name
- CAGS NHS (NCT05528744)
- Testing
- Observational Study, Sample collection only
- Where
- United States
- Volunteers
- 125 people
- Sponsor
- Boston Children's Hospital
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Pancreas Cancer, Pancreatitis
Pancreas Registry and High Risk Registry
The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of…
- Conditions
- Pancreas Cancer, Pancreatitis, Chronic Pancreatitis, Pancreatic Cyst
- Trial name
- NCT02775461
- Where
- 2 sites in United States
- Volunteers
- 1,368 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Usher Syndrome
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500.
- Trial name
- MYO7A (NCT07278843)
- Testing
- Vision tests, Retinal imaging, Questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Preimplantation Genetic Testing, Progestin-primed Ovarian Stimulation
Comparison of the Euploid Rate of Blastocyst Between PPOS and GnRH Antagonist Protocol in Women With PCOS Undergoing PGT-A
This randomized trial aims to compare the euploid rate of blastocysts between PPOS (progestin-primed ovarian stimulation) and GnRH (gonadotrophin releasing hormone) antagonist protocols in patients with PCOS (polycystic ovary…
- Conditions
- Preimplantation Genetic Testing, Progestin-primed Ovarian Stimulation, Polycystic Ovarian Syndrome, GnRH Antagonist
- Trial name
- NCT05326087
- Testing
- GnRH antagonist, MPA
- Volunteers
- 204 people
- Sponsor
- ShangHai Ji Ai Genetics & IVF Institute
Genetics Syndrome, Ehlers-Danlos Syndrome
Genetics of Ehlers-Danlos Syndrome
We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr.
- Trial name
- NCT03093493
- Testing
- Genotyping
- Where
- United States
- Volunteers
- 334 people, healthy volunteers welcome
- Sponsor
- Boston University
Cancer Predisposition Syndrome, Predisposition, Genetic
Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study
The purpose of this research study is to evaluate the possible benefits and harms of screening with an investigational blood test designed to detect many types of cancer early.
- Trial name
- NCT06450171
- Testing
- GRAIL Galleri Test
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X-Linked, Genetic Diseases, X-Linked
- Trial name
- NCT03862950
- Testing
- Metformin
- Where
- 2 sites in Canada
- Volunteers
- 125 people
- Sponsor
- University of Alberta
Genetic Syndrome, Language Development
Study of an Early Parenting Intervention for Children With Genetic Abnormalities and Mental Health Problems
The GAP study is a randomized controlled trial that aims to determine the feasibility and efficacy of the "Incredible Years Autism Spectrum and Language Delays" (IY-ASLD®) intervention for families of children with developmental…
- Conditions
- Genetic Syndrome, Language Development, Autism or Autistic Traits, Parenting
- Trial name
- The GAP (NCT06125093)
- Testing
- Incredible Years Autism Spectrum and Language Delays Parent Program (IY-ASLD®)
- Where
- 3 sites in Spain
- Volunteers
- 53 people
- Sponsor
- Fundació Sant Joan de Déu
Neurological Impairments, Genetic Syndrome
Speech Therapy and Parenting for Early Socio-communicAtive sKills
Every year, millions of children are diagnosed with neurodevelopmental disabilities. This term covers a wide range of conditions, from genetic syndromes to brain injuries such as cerebral palsy.
- Conditions
- Neurological Impairments, Genetic Syndrome, Neurodevelopmental Disability, Developmental Delays
- Trial name
- SPEAK (NCT06666777)
- Testing
- Intervention focused on intersubjective prelinguistic and socio-communicative skills, Standard speech therapy intervention
- Where
- 9 sites in Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Eugenio Medea
Invasive Fungal Disease, Chronic Disseminated Candidiasis
Hepatosplenic CANdidiasis : PETscan and Immune Response Analysis
The purpose of this study is to determine whether F18 fluorodeoxyglucose (18F-FDG) positron-emission tomography scan (PET scan) is useful for the therapy strategy of hepatosplenic candidiasis.
- Conditions
- Invasive Fungal Disease, Chronic Disseminated Candidiasis, Hematological Malignancies, Hematopoietic Stem Cell Transplantation
- Trial name
- CANHPARI (NCT01916057)
- Testing
- 18F-FDG PET Scan
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Down Syndrome (DS)
Awareness of Families With Down Syndrome Children About the Role of Physical Therapy in Egypt
This study explores how much families with children who have Down Syndrome in Egypt know about the benefits and role of physical therapy.
- Trial name
- DS-AWARENESS (NCT06993324)
- Where
- Egypt
- Volunteers
- 240 people
- Sponsor
- Cairo University
Pediatric: Genetic Syndrome
Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
The Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) is a research study aimed at comparing the clinical and economic utility of performing rapid whole genomic sequencing versus a targeted genomic sequencing panel…
- Trial name
- GEMINI (NCT03890679)
- Testing
- rapid whole genomic sequencing (rWGS)
- Where
- 6 sites in United States
- Volunteers
- 400 people
- Sponsor
- Tufts Medical Center
Citrate Transporter Deficiency, Epilepsy
SLC13A5 Deficiency Natural History Study - United States Only
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life.
- Conditions
- Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders
- Trial name
- NCT06144957
- Where
- 3 sites in United States
- Volunteers
- 17 people
- Sponsor
- TESS Research Foundation
HIV/AIDS, Albuminuria
Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria
In this study, the Investigators plan to determine the optimal means to prevent or slow the progression of kidney disease among genetically at-risk northern Nigerian HIV-infected adults.
- Conditions
- HIV/AIDS, Albuminuria, Kidney Diseases, Genetic Predisposition
- Trial name
- R3 (NCT03201939)
- Testing
- Lisinopril
- Where
- Nigeria
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Colo-rectal Cancer, Hereditary Diseases
Lynch Syndrome in Colorectal Cancer Surgery
Study Design (Material and Methods) This is a multicentre, prospective cohort and audit study conducted in Türkiye. The study aims to evaluate the incidence of Lynch syndrome among patients who undergo surgery for colorectal…
- Conditions
- Colo-rectal Cancer, Hereditary Diseases, Lynch Syndrome
- Trial name
- LYNX (NCT06990633)
- Testing
- diagnostic test
- Volunteers
- 180 people
- Sponsor
- Izmir Ataturk Training and Research Hospital
Daily Step Count, MASLD
The Efficacy of Pedometer-motivated Physical Activity for the Management of Patients With MASLD.
The study conducted a health survey among Thai adults in 2022 and found a significant increase in obesity and nonalcoholic fatty liver disease (NAFLD), leading to metabolic-associated steatotic liver disease (MASLD).
- Conditions
- Daily Step Count, MASLD, BMI, Metabolic Syndrome
- Trial name
- NCT06334666
- Testing
- Encourage using pedometer
- Where
- Thailand
- Volunteers
- 86 people
- Sponsor
- Mahidol University