Clinical trials: Silver Russell 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
Small for Gestational Age Infant, Silver-Russell Syndrome
Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature
This study is a multi-center, retrospective and non-interventional research. In this study, a total of 150 short children who were small for gestational age and had been treated with recombinant human growth hormone (rhGH) are…
- Conditions
- Small for Gestational Age Infant, Silver-Russell Syndrome, Genetic Diseases, Inborn
- Trial name
- NCT05070234
- Testing
- Blood collection for genetic analysis
- Volunteers
- 150 people
- Sponsor
- Chunxiu Gong
Silver Russell Syndrome, Prader-Willi Syndrome
Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome
There is currently no drug with pediatric marketing authorization capable of limiting the advance in bone maturation of children with aggressive adrenarche.
- Trial name
- ANASILPRA (NCT01520467)
- Testing
- Anastrozole
- Where
- France
- Volunteers
- 27 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Syndrome, Russell Silver
Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology
Silver Russell Syndrome (SRS) is a rare imprinting disorder (about 1/16000). Parental imprinting is an epigenetic regulation phenomenon leading to the monoallelic expression of some genes.
- Trial name
- SRS-AMP (NCT06878716)
- Where
- France
- Volunteers
- 125 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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