Molecular phenotyping of MCA/ID patients to improve diagnosis

Molecular phenotyping of MCA/ID patients to improve diagnosis - Molecular phenotyping of MCA/ID patients

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45939

Enrollment

300

Registered

2016-02-17

Start date

2016-10-10

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital abnormalities intellectual disability

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: * Patient has MCA/ID and is already in the diagnostic clinical genetic circuit at the UMCU. * Patient lack a diagnosis from regular diagnostic testing (aCGH, WES) * Both parents are available for blood sampling * Parents have to give consent for the patient

Exclusion criteria

Exclusion criteria: * One or both Parents do not give consent * MCA/ID patient carries a recurrent/described SV with a causal variant (i.e. patient has a diagnosis: only undiagnosed MCA/ID patients will be included in this cohort). * One or more of the parents is not available for blood sampling * Patients are younger than 2 years of age * Blood sampling is not possible from the patient for medical reasons

Design outcomes

Primary

Measure	Time frame
This study will generate a genomics dataset from patient-parent trios at the DNA, RNA and epigenome level. These data will help to better diagnose this group of patients. Therefore, results from this study can help in the routine diagnostic care of this patient group. These results will then be shared with the clinical geneticists involved in this study through routine care mechanisms.	—

Secondary

Measure	Time frame
The results from this study could also generate new genes and/or mechanisms that are important in the etiology of MCA/ID as a syndrome.	—

Countries

Netherlands

Outcome results