Clinical trials: Genetic Syndrome
Genetic Disorder, Infertility
Inherited Reproductive Disorders
Background: During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty.
- Conditions
- Genetic Disorder, Infertility, Hypogonadism, Amenorrhea
- Trial name
- NCT01500447
- Where
- 2 sites in United States
- Volunteers
- 850 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Neurofibromatosis 1, Noonan Syndrome
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful.
- Conditions
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome
- Trial name
- NCT05361811
- Testing
- Waitlist, ACT Intervention
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cockayne Syndrome, Skin Neoplasms
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility.
- Conditions
- Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes
- Trial name
- NCT00001813
- Where
- United States
- Volunteers
- 709 people
- Sponsor
- National Cancer Institute (NCI)
Eosinophilic Disease, Immune Deficiency
Screening Protocol for Genetic Diseases of Allergic Inflammation
Background: Mast cells are responsible for most symptoms of allergic reactions. In some allergic diseases, it is unusually easy to cause mast cells to release their contents and cause allergic reactions.
- Conditions
- Eosinophilic Disease, Immune Deficiency, HaTS, Urticaria Anaphylaxis
- Trial name
- NCT00852943
- Where
- United States
- Volunteers
- 834 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Genetic Disorder, Asperger Disorder
Pediatric Patients With Metabolic or Other Genetic Disorders
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies.
- Conditions
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome
- Trial name
- NCT02769949
- Where
- United States
- Volunteers
- 96 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Sanfilippo Syndrome (MPS III)
Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
The goal of this clinical trial is to learn if one infusion of rAAV9-CMV-hNAGLUop can treat patients with Sanfilippo syndrome (MPS III) 6 months or older.
- Trial name
- NCT07818759
- Testing
- rAAV9-CMV-hNAGLUop
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- NeuroGT
Genetic Disease, Genetic Syndrome
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of…
- Trial name
- NCT03458962
- Testing
- Genetic Enrollees
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
ACT-GEN, Genetic Cancer Syndromes
ACT-GEN (Adherence And Care Tracking In GENetic Cancer Syndromes)
To help people with high-risk cancer variants to follow cancer surveillance guidelines and lower their risk of developing the disease.
- Trial name
- NCT07565467
- Testing
- Standard of care, Interviews
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- M.D. Anderson Cancer Center
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Cornelia de Lange Syndrome
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
This research project is a randomized cross-over pilot trial which aims to test the efficacy of N-acetylcysteine (NAC) for the treatment of Repetitive Behaviors (RB) and self-injurious behavior (SIB) in patients with Cornelia de…
- Trial name
- NCT04381897
- Testing
- N-acetyl cysteine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Nutrition, Metabolic Syndrome
Impact of Genetic Polymorphisms And DASH Diet On Weight Loss Progression In Climacteric Women With Metabolic Syndrome
Metabolic syndrome is a multifactorial inflammatory condition that is very prevalent in overweight women with type 2 diabetes. However, there seems to be great benefit in changing lifestyle and dietary patterns in the treatment…
- Conditions
- Nutrition, Metabolic Syndrome, Obesity, Weight Loss
- Trial name
- NCT06978504
- Testing
- DASH diet
- Where
- Brazil
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Nutrindo Ideais Research Center
Dysmetabolic Iron Overload Syndrome, Genetic Hemochromatosis
Effects of Polyphenols on Iron Absorption in Iron Overload Disorders.
Dysmetabolic iron overload syndrome and genetic hemochromatosis are frequent causes of iron overload. Polyphenols are efficient iron-chelators.
- Conditions
- Dysmetabolic Iron Overload Syndrome, Genetic Hemochromatosis, Iron Absorption, Polyphenols
- Trial name
- POLYFER (NCT03453918)
- Testing
- polyphenols
- Where
- France
- Volunteers
- 41 people
- Sponsor
- University Hospital, Clermont-Ferrand
Metabolic Dysfunction-Associated Steatotic Liver Disease, Pediatric Obesity
Non-Invasive Diagnostic Panel for MASLD in Children With Obesity
This prospective, single-center, two-group observational study evaluates a non-invasive multi-parameter diagnostic panel for metabolic dysfunction-associated steatotic liver disease (MASLD) in children with obesity.
- Conditions
- Metabolic Dysfunction-Associated Steatotic Liver Disease, Pediatric Obesity, Insulin Resistance Syndrome
- Trial name
- PedMASLD-Pilot (NCT07731360)
- Testing
- Non-Invasive Multi-Parameter Diagnostic Panel
- Where
- Turkey (Türkiye)
- Volunteers
- 180 people
- Sponsor
- Kayseri City Hospital
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
The Immune Dysregulation Polyendocrinopathy Enteropathy X-linked Syndrome is a Primary Immunodeficiency Caused by Pathogenic Variants in Forkhead Box Protein 3
Study Evaluating a Gene Therapy for IPEX Syndrome Through the Expression of FOXP3 on Deficient T Cells to Produce Tregs-like.
The purpose of this study is to evaluate the safety and efficacy of FOXP3-T4 (an autologous gene therapy) alone or in combination with low-dose IL-2 for the treatment of IPEX syndrome.
- Trial name
- THERIPEX (NCT07697118)
- Testing
- FOXP3-T4 drug product, ILT-101
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hereditary Breast/Ovarian Cancer (brca1, brca2), Lynch Syndrome
Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes
The goal of this clinical trial is to address care gaps for participants at high risk of breast and ovarian cancer (HBOC), or Lynch syndrome (LS) because of testing positive for specific genetic variants.
- Conditions
- Hereditary Breast/Ovarian Cancer (brca1, brca2), Lynch Syndrome, Genetic Variation, HBOC Syndrome
- Trial name
- PC-CDS (NCT06914726)
- Testing
- Patient Centered Clinical Decision Support (PC-CDS)
- Where
- United States
- Volunteers
- 2,488 people
- Sponsor
- HealthPartners Institute
Psychological Distress, Genetic Testing
Psychological Support and Psycho-Emotional Trajectories in Cancer Genetics.
Undergoing a cancer genetic testing pathway and receiving results regarding a personal or familial cancer predisposition can generate substantial, multifaceted psycho-emotional distress for patients.
- Conditions
- Psychological Distress, Genetic Testing, Hereditary Neoplastic Syndromes, Neoplasms
- Trial name
- PsyOncoGen (NCT07695506)
- Testing
- Patients undergoing their first cancer genetic testing consultation who choose to utilise the clinical psychological support offered by the unit, Patients undergoing their first cancer genetic testing consultation who choose to follow the care pathway without utilising the systematically offered clinical psychological support.
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Rett Syndrome
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the…
- Trial name
- NCT05606614
- Testing
- TSHA-102
- Where
- 9 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Taysha Gene Therapies, Inc.