CompletedNot Applicable

The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II

France30 participantsStarted 2010-07-28

Plain-language summary

The purpose of this study si to define morphological and epidemiological parameters and identify new symptoms in French patients with Seckel syndrome (SCKL) or microcephalic osteodysplastic primordial dwarfism type II (MOPDII).

Who can participate

Age range

2 Months

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: Patients aged from 2 months to 50 years must present all of the following criteria: * Symmetrical intrauterine growth restriction (IUGR) \< - 2 DS, Birth size \<-2 DS and Cranial perimeter of birth \<-2 DS * Postnatal growth restriction (size \<-4DS) * Microcephaly \<-4DS * Clinical Diagnosis of Seckel Syndrome or Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) by a geneticist * Having given free and informed consent Exclusion Criteria: * Refutation of the diagnosis * Parents' refusal to participate in genetic studies once the diagnosis of SCKL or MOPDII has been establish for the patient (major or minor) * Allergy to gadolinium, contraindicating the realization of an Angio-MRI * Absence of affiliation to a social security scheme or Universal Health Coverage.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

to visualize any vascular abnormalities according the cerebral angiography-MRI

Timeframe: 10 months

Trial details

NCT IDNCT03139903

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2013-07-16

View on ClinicalTrials.gov More Microcephalic Osteodysplastic Primordial Dwarfism Type II trials

Who can participate

Age range

2 Months

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.