Syndrome, Russell SilverSRS-AMPNCT06878716
Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology
An observational study of Syndrome, Russell Silver, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Syndrome, Russell Silver
- How many people
- 125 participants
- Where
- 1 siteFrance
- Study dates
- Mar 2025to Feb 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 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.
Who may be able to join
- ≥ 18 years old
- parents from patients followed in the department " Unité Fonctionnelle Endocrinienne du Pr Netchine " for un Silver Russell syndrome
Who cannot join
- parent's objection
- patient under State Medical Aid
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Pediatric Endocrine department - Trousseau Hospital
Paris, 75012
Irène Netchine, PUPH - MD, PhD, 00 33 1 44 73 66 31, irene.netchine@aphp.fr
Marie-Pierre Luton, PhD, +33(0) 1 87 89 26 00, mariepierre.luton@aphp.fr
About this study
Official title: Official Title : Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology 600 caractères Maximum
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).
Read more
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.
Read the detailed description
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.
- Conditions
- Syndrome, Russell Silver
- Keywords
- Imprinting disorders, - Silver Russell syndrome, Infertility, Assisted Reproductive Technology, In vitro fertilization
- Medical subject headings
- Silver-Russell Syndrome, Imprinting Disorders, Infertility
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of SRS patients whose mode of conception was ART
To estimate ART conceptions prevalence in children followed for a SRS
Measured: Day 0, visit inclusion
Secondary outcomes (6)
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
Measured: Day 0, visit inclusion
Estimate frequency of maternal and paternal BMI at the time of conception
Measured: 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
Measured: Day 0, visit inclusion
Estimate frequency of parents's profession at the time of conception
Measured: 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.
Measured: 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.
Measured: 3 years, end of the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2025
- Study startMar 2025 (estimated)
- Primary completionFeb 2028 (estimated)
- Study completionFeb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Syndrome, Russell SilverStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 125 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Irène Netchine, PUPH, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06878716
- Sponsor's protocol ID
- APHP240670
- Other IDs
- IDRCB 2021-A02781-40
- Acronym
- SRS-AMP
- Status last verified
- Mar 2025
- First submitted
- 21 Feb 2025
- Last updated
- 17 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Official Title : Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology 600 caractères Maximum
- ClinicalTrials.gov ID
- NCT06878716
- Acronym / sponsor ID
- SRS-AMP / APHP240670
- Conditions
- Syndrome, Russell Silver
- Keywords
- Imprinting disorders, - Silver Russell syndrome, Infertility, Assisted Reproductive Technology, In vitro fertilization
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 125 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Mar 2025 (estimated)
- Primary completion
- Feb 2028 (estimated)
- Study completion
- Feb 2028 (estimated)
- First posted
- 17 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (2 listed)
- ≥ 18 years old
- parents from patients followed in the department " Unité Fonctionnelle Endocrinienne du Pr Netchine " for un Silver Russell syndrome
Key exclusion criteria (2 listed)
- parent's objection
- patient under State Medical Aid
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Proportion of SRS patients whose mode of conception was ART
Time frame: Day 0, visit inclusion
To estimate ART conceptions prevalence in children followed for a SRS
6 secondary outcomes
Estimate infertility prevalence among parents of patients with SRS (defined as a delay to conception of more than 12 months)
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
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
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
Time frame: 3 years, end of the study
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2025.
- Individual participant dataSharing planned: Undecided
Related trials for Syndrome, Russell Silver
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Irène Netchine, PUPH, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Syndrome, Russell Silver, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 17 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Irène Netchine, PUPH, MD, PhD (0033 1 44 73 66 31, irene.netchine@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of SRS patients whose mode of conception was ART (time frame: Day 0, visit inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2025.