Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
Recruiting
N/A
Interventional Study
Rare Genetic Disease
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
At a Glance
- Age
- 0 – 99
- Sex
- Any
- Study type
- Interventional
- Purpose
- Diagnostic
- Participants needed
- 62 (estimated)
- Sponsor
- Assistance Publique Hopitaux De Marseille · Other
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About This Trial
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients.
Finally, the results of this study will make it possible to compare the two types of tissue used…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Male or female, aged 0-99 years
* Patient with neonatal intellectual disability and/or hypotonia followed at one of three inclusion centers
* Patient or parent has been informed about the study and has signed an informed consent form
* Genetic analysis by high-throughput DNA s…
Contacts