Clinical trials: Beckwith-Wiedemann Syndrome
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Pregnant Women Requiring Amniocentesis
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region lead to Beckwith-Wiedemann and Silver-Russell Syndromes.
- Trial name
- DASIRUWIBE (NCT01842659)
- Testing
- Methylation Index
- Where
- France
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Natural Pregnancy, Pregnancy, Ovarian
Genomic Imprinting and Assisted Reproductive Technologies
Genomic imprinting, referring to an epigenetic marking resulting in monoallelic gene expression, plays a critical role in development.
- Trial name
- EPIGEN (NCT00773825)
- Where
- France
- Volunteers
- 542 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Tumor, Facial Fracture
A Post Market Clinical Follow-up Study on Biomet Microfixation HTR PEKK (Midface), Facial & Mandibular Plates.
This study will address medical devices manufactured by Biomet Microfixation (d.b.a. Zimmer Biomet) designed for fixation and stabilization of the facial and mandibular skeleton.
- Conditions
- Tumor, Facial Fracture, Mandibular Fractures, Fibrous Dysplasia
- Trial name
- NCT04931056
- Testing
- Titanium Facial Plates, Titanium Mandibular Plates, Add-on Condyle
- Where
- Argentina
- Volunteers
- 91 people
- Sponsor
- Zimmer Biomet
Electromyography, EMG: Myopathy
Electromyographic Study for the Help and Guidance of BoNTA Administration in the Treatment of Chronic Pelvic Floor Pain
Chronic pelvic pain (CPP) is a common presenting complaint affecting approximately 15-40 % of women aged 18-50 in western countries and 5-43% of women in most developing countries.
- Conditions
- Electromyography, EMG: Myopathy, EMG Syndrome, Pelvic Pain
- Trial name
- SEMG (NCT03715777)
- Testing
- Clostridium botulinum type A (BoNTA)
- Where
- Spain
- Volunteers
- 25 people
- Sponsor
- Jose Alberola-Rubio
Palmaris Longus Muscle, Absence of, Carpal Tunnel Syndrome
Electrophysiological Changes Based on the Palmaris Longus
One of the most important causes of carpal tunnel syndrome is increased pressure in the canal. With the loading of the palmaris longus at 20 degrees of wrist extension, the pressure within the canal increases more than the load…
- Conditions
- Palmaris Longus Muscle, Absence of, Carpal Tunnel Syndrome, EMG Syndrome
- Trial name
- NCT04619849
- Testing
- EMG, Palmaris Longus Test
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people
- Sponsor
- Istanbul Medipol University Hospital
Sotos Syndrome, Beckwith-Wiedemann Syndrome
Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts.
- Conditions
- Sotos Syndrome, Beckwith-Wiedemann Syndrome, Overgrowth Syndrome, Body Image
- Trial name
- Body-PROBAND (NCT04993235)
- Testing
- NEPSY-II, CBCL and AQ questionnaires, BUT questionnaire and experimental tasks
- Where
- Italy
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Congenital Hyperinsulinism (CHI), Beckwith-Wiedemann Syndrome
18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia
This purpose of this study is to determine the ability of an 18F-fluoro-L-dihydroxyphenylalanine (18F-DOPA) PET (Positron Emission Tomography) scan to detect a focal lesion of hyperinsulinism and determine the location in…
- Conditions
- Congenital Hyperinsulinism (CHI), Beckwith-Wiedemann Syndrome, Insulinoma
- Trial name
- NCT01916148
- Testing
- 18F-DOPA
- Where
- United States
- Sponsor
- Children's Hospital of Philadelphia
Adult Kidney Wilms Tumor, Beckwith-Wiedemann Syndrome
Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor
This phase III trial studies how well combination chemotherapy and surgery work in treating young patients with Wilms tumor. Drugs used in chemotherapy work in different ways to stop the growth of tumor cells, either by killing…
- Conditions
- Adult Kidney Wilms Tumor, Beckwith-Wiedemann Syndrome, Childhood Kidney Wilms Tumor, Diffuse Hyperplastic Perilobar Nephroblastomatosis
- Trial name
- NCT00945009
- Testing
- Dactinomycin, Doxorubicin Hydrochloride, Radiation Therapy
- Where
- 169 sites in United States, Australia and 4 more
- Volunteers
- 249 people
- Sponsor
- Children's Oncology Group
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Wilms' Tumor, Aniridia
Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies
The goal of this clinical research study is to collect information and blood samples to try to learn why some people develop cancers and tumors, why some families have more cancers than others, and whether certain genes or…
- Trial name
- NCT00503893
- Testing
- Questionnaire, Blood specimen
- Where
- United States
- Volunteers
- 295 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Beckwith-Wiedemann Syndrome
Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks
Pathogenic variants in subcortical maternal complex (SCMC) have been identified not only in mothers of Beckwith-Wiedemann syndrome (BWS) babies but also in women with reproductive disturbances such as failed pregnancy attempts…
- Trial name
- NCT06346418
- Testing
- WES analysis, whole-genome methylation analysis
- Where
- 2 sites in Italy
- Volunteers
- 208 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico