Clinical trials: Congenital Disorders
Birth Defects, Multiple Congenital Anomaly
Genetic Inclusion by Virtual Evaluation
This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving…
- Conditions
- Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders
- Trial name
- GIVE (NCT05318222)
- Testing
- Whole genome sequencing (WGS)
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Hypoxemia, Skin Pigment
Skin Pigment/Pulse Oximeter in Congenital Heart Disease (CHD)
Recent retrospective studies have demonstrated differences between pulse oximeter values (SpO2) and measured arterial oxygen saturation (SaO2) in patients identifying as Black or Hispanic.
- Conditions
- Hypoxemia, Skin Pigment, Congenital Heart Disease
- Trial name
- NCT06575270
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Naevi, Neurodevelopmental Disorder
CongenItal Naevus Cohort for Longitudinal Evaluation
Congenital Nevus (CN) is a pigmented skin lesion present at birth, which grows in size as the child grows. It can vary in appearance and is classified by its size, from small (less than 1.5 cm) to giant (greater than 40 cm).
- Conditions
- Naevi, Neurodevelopmental Disorder, Congenital Nevus
- Trial name
- CIRCLE (NCT06828822)
- Testing
- Neurodevelopmental assessment, Meeting with the parents, Patient quality of life assessment
- Where
- 16 sites in France
- Volunteers
- 819 people
- Sponsor
- Nantes University Hospital
Congenital Heart Disease, Fetal Heart Disorder
Perinatal Cardiology: Bridging Obstetric and Neonatal Care in CHD
This prospective observational study aims to evaluate the agreement between prenatal fetal echocardiographic diagnoses and postnatal diagnoses of congenital heart disease, and to assess the impact of prenatal diagnosis status on…
- Conditions
- Congenital Heart Disease, Fetal Heart Disorder, Neonatal Disease, Fetal Disease
- Trial name
- NCT07820163
- Volunteers
- 115 people
- Sponsor
- Assiut University
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Congenital Anomalies, Mendelian Disorders
Evaluating Prenatal Exome Sequencing Study
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies…
- Conditions
- Congenital Anomalies, Mendelian Disorders, Genetic Diseases, Inborn
- Trial name
- EPES (NCT05290701)
- Where
- Netherlands
- Volunteers
- 235 people
- Sponsor
- Leiden University Medical Center
Non-progressive Congenital Ataxia, Ataxic Cerebral Palsy
ARTEMIS - The ARTEMIS Cohort
This multinational European observational clinical study focuses on non-progressive congenital ataxia (NPCA), a very rare early-onset neurological condition also within the cerebral palsy (CP) concept as ataxic CP.
- Trial name
- ARTEMIS (NCT07421219)
- Where
- 7 sites in Belgium, Denmark and 5 more
- Volunteers
- 50 people
- Sponsor
- Vastra Gotaland Region
Adrenal Gland Pheochromocytoma, Carcinoma In Situ
Project: Every Child for Younger Patients With Cancer
This study gathers health information for the Project: Every Child for younger patients with cancer. Gathering health information over time from younger patients with cancer may help doctors find better methods of treatment and…
- Conditions
- Adrenal Gland Pheochromocytoma, Carcinoma In Situ, Central Nervous System Neoplasm, Childhood Immature Teratoma
- Trial name
- NCT02402244
- Testing
- Cytology Specimen Collection Procedure, Medical Chart Review
- Where
- 279 sites in United States, Australia and 4 more
- Volunteers
- 75,000 people
- Sponsor
- Children's Oncology Group
HIV/AIDS, Pregnancy Related
Measuring Adverse Pregnancy and Newborn Congenital Outcomes
The purpose of this study is to develop a pharmacovigilance (PV) surveillance program to monitor adverse pregnancy and infant outcomes, including the presence of congenital abnormalities, among HIV-positive and HIV-negative women…
- Conditions
- HIV/AIDS, Pregnancy Related, Congenital Disorders, Newborn Morbidity
- Trial name
- MANGO (NCT04405700)
- Testing
- Pharmacovigilance surveillance program
- Where
- Kenya
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- Indiana University
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.
Phosphomannomutase 2 Deficiency, PMM2-CDG
A Study to Assess the Efficacy and Safety of Weekly Doses of GLM101 in Participants With PMM2-CDG
This study is evaluating the safety, effectiveness, and how the body absorbs, distributes, and eliminates GLM101, for participants with PMM2-CDG, including children, adolescents, and adults.
- Trial name
- NCT06892288
- Testing
- GLM101 (Part A, Double-blind), GLM101 (Part B, Open-label)
- Where
- 15 sites in United States, Belgium and 8 more
- Volunteers
- 50 people
- Sponsor
- Glycomine, Inc.
Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders
3'-Deoxy-3'-[18F] Fluorothymidine PET Imaging in Patients With Cancer
RATIONALE: Diagnostic procedures, such as 3'-deoxy-3'-[18F] fluorothymidine (FLT) PET imaging, may help find and diagnose cancer.
- Conditions
- Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders, Leukemia, Lymphoma
- Trial name
- NCT00935090
- Testing
- 3'-deoxy-3'-[18F]fluorothymidine
- Where
- United States
- Sponsor
- Barbara Ann Karmanos Cancer Institute
Cardiac Diseases, Sickle Cell Disease
Domestication and Implementation of the PEN-Plus Clinical Model in the Zambian Health System
Cognizant of the prevalence of complicated non communicable diseases (NCD) and the attendant capacity problems faced by the health workers in primary care settings, we propose to adapt and pilot the Package of Essential…
- Conditions
- Cardiac Diseases, Sickle Cell Disease, Hypertension, Diabetes Mellitus
- Trial name
- PEN Plus (NCT07753681)
- Testing
- Supportive treatment
- Where
- Zambia
- Volunteers
- 2,084 people
- Sponsor
- Centre for Infectious Disease Research in Zambia
Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations
Regeneron is conducting a study of an investigational new drug called DB-OTO. DB-OTO is a gene therapy that is being developed to treat pediatric and adult participants who have severe-to profound and profound hearing loss due to…
- Trial name
- CHORD (NCT05788536)
- Testing
- DB-OTO
- Where
- 17 sites in United States, Germany and 3 more
- Volunteers
- 36 people
- Sponsor
- Regeneron Pharmaceuticals
Epstein-Barr Virus (EBV)-Associated Diseases, EBV+ Lymphoproliferative Disease With Primary Immunodeficiency (EBV+ PID LPD)
A Study to Evaluate Tabelecleucel in Participants With Epstein Barr Virus (EBV) Associated Diseases
The purpose of this study is to assess the efficacy and safety of tabelecleucel in participants with EBV-associated diseases.
- Conditions
- Epstein-Barr Virus (EBV)-Associated Diseases, EBV+ Lymphoproliferative Disease With Primary Immunodeficiency (EBV+ PID LPD), EBV+ Lymphoproliferative Disease With Acquired (Non-congenital) Immunodeficiency (EBV+ AID LPD), EBV+ Posttransplant Lymphoproliferative Disease in Central Nervous System (EBV+ CNS PTLD)
- Trial name
- NCT04554914
- Testing
- Tabelecleucel
- Where
- 40 sites in United States, Austria and 5 more
- Volunteers
- 190 people
- Sponsor
- Pierre Fabre Medicament
Congenital Disorders of Glycosylation
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
- Trial name
- NCT04199000
- Where
- 12 sites in United States
- Volunteers
- 500 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors
Screening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic Disorders
Preventive measures are increasingly coming to the forefront of medicine. Many of these measures can be implemented as early as childhood and adolescence.
- Conditions
- Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Congenital Heart Disease, Inflammatory Bowel Disease (IBD)
- Trial name
- FAMELIPIDCHILD (NCT07716488)
- Testing
- blood test, questionaire
- Where
- Germany
- Volunteers
- 600 people
- Sponsor
- Alexandra Miriam Kiess
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.
Congenital Heart Disease in Children, Hypoxia
Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
Determine 1) the impact of abnormal fetal cerebrovascular physiology with neurodevelopmental delay (ND) outcomes and 2) how this relationship is modified by patient and environmental factors such as chronic congenital heart…
- Conditions
- Congenital Heart Disease in Children, Hypoxia, Neurodevelopmental Disorders, Complex Congenital Heart Disease
- Trial name
- NCT05767385
- Testing
- Single Arm, Neonatal Neurobehavioral Scale
- Where
- 5 sites in United States
- Volunteers
- 104 people
- Sponsor
- University of Utah
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2b study is to evaluate the safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- LUNA (NCT06627179)
- Testing
- Intravitreal Injection of Ultevursen, No intervention, will not receive any active study intervention
- Where
- 26 sites in United States, Belgium and 8 more
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea