An observational study in Syndrome, Russell Silver, sponsored by Assistance Publique - Hôpitaux de Paris. Not yet recruiting at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-03-17.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
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. Its establishment takes place in the gametes and its maintenance is important at the early embryonic stage. Increase in the prevalence of conception by assisted reproductive technology (ART) has already been found in patients with imprinted disorder such as Angelman, Beckwith-Wiedemann or Prader Willi Syndromes, and more recently with SRS; ART is associated with an increase in the frequency of SRS. Several hypotheses are formulated to explain this increase. The first one is the involvement of the infertility etiology in the imprinting disorder genesis. The second one is the involvement of ART technics in the genesis of abnormal gamete imprinting during their manipulation or during imprinting maintenance at early embryonic stages.
Our main objective is to estimate ART conceptions prevalence in children followed for a SRS. The secondary objectives are to estimate infertility prevalence among parents of patients with SRS, to estimate factors frequency possibly responsible for the genesis of imprinting anomalies among parents of patients with SRS, to describe the infertility causes and to detail ART technics used (stimulation protocols, type of fertilization used, modality of embryonic culture and transfer, embryonic characteristics).
A transversal pilote study will be firstly conducted in parents of patients followed in Silver Russell Syndrome Reference Center (Pediatric Endocrine department, in Trousseau Hospital, Paris).
Data collection will be done by phone, after collecting the non-opposition of the parents, in order to complete a questionnaire concerning their fertility and conception mode of their child. If ART was used to conceive, a questionnaire concerning the details of the ART technics used will be sent to the doctor and:or the ART biologist, who performed the ART. The data will be anonymized and collected on a REDCap database.
There is no planned follow-up, and the parents' participation is limited to the telephone interview.
The aim is to conduct / carry out a single-centre observational cross-sectional study, on the one hand by collecting data from the centre's patient files (molecular anomaly leading to the diagnosis of Silver Russell syndrome) and on the other hand by conducting a 30-minute telephone questionnaire to collect additional data. The first part of this questionnaire will be carried out with the parents of these patients in order to specify their age, height, weight, drug consumption and profession at the time of the start of pregnancy, as well as the time required for conception and recourse to ART.
In the event of recourse to ART, with the authorisation of the parent(s), a questionnaire will be sent to the clinical doctor and/or the biologist at the ART centre.
9,217 studies on the registry are indexed under Syndrome; 1,031 are open to participants now.
This study's planned enrollment of 125 is above the median of 102 across 2,209 observational studies indexed under Syndrome.
Browse Syndrome studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Parents of children being followed for Silver-Russell syndrome at the Silver-Russell Syndrome Reference Centre at Trousseau Hospital in the Endocrine Functional Investigation Unit.
Exclusion Criteria:
Proportion of SRS patients whose mode of conception was ART
To estimate ART conceptions prevalence in children followed for a SRS
Time frame: Day 0, visit inclusion
Estimate infertility prevalence among parents of patients with SRS (defined as a delay to conception of more than 12 months)
The time required for conception is defined by the time between stopping contraception and the start of pregnancy
Time frame: Day 0, visit inclusion
Estimate frequency of maternal and paternal BMI at the time of conception
Time frame: Day 0, visit inclusion
Estimate frequency of consumption of tobacco and alcohol at the time of conception
At the time of conception maternal and paternal BMI, consumption of tobacco and alcohol and both parents' occupations
Time frame: Day 0, visit inclusion
Estimate frequency of parents's profession at the time of conception
Time frame: Day 0, visit inclusion
The etiology of infertility in detail
Study infertility causes in detail this will be do through a questionnaire send to the fertility doctor who treated the parents.
Time frame: 3 years, end of the study
Describe the ART techniques used from the point of view of ovarian stimulation but also oocyte, sperm and embryo manipulations
Details of ART techniques used this will be do through a questionnaire send to the fertility doctor who treated the parents.
Time frame: 3 years, end of the study
Plan to share: Undecided
No publications or documents are linked to this record.
This study is not yet recruiting, as verified in Mar 2025. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Silver-Russell Syndrome
Assistance Publique - Hôpitaux de Paris