Rare Diseases with unresolved diagnosis
Conditions
Interventions
Group 1: Retrospective analysis of rare disease patients with unresolved or unclear diagnoses.
Sponsors
Universitätsklinikum Tübingen, Institut für medizinische Genetik und angewandte Genomik
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients with rare diseases who, despite extensive diagnostic evaluations, have not received a diagnosis, and, where applicable, their immediate family members.
Exclusion criteria
Exclusion criteria: Patients without a rare disease or with an established (confirmed) diagnosis.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Increased diagnostic rate within the study population. Defined as the proportion of clearly resolved cases (diagnostically solved) relative to the total number of enrolled patients [Proportion in %]. | — |
Secondary
| Measure | Time frame |
|---|---|
| Shortened time to diagnosis, defined as the period between a patient’s first medical presentation for the suspected rare disease and either the establishment of a molecular diagnosis or enrolment into systematic research when a diagnosis is not yet possible [Time in months]. Increased number of newly identified disease genes. Defined as the absolute number of gene-disease associations newly described or confirmed within the framework of the study [n]. | — |
Countries
Germany
Contacts
Public ContactHolm Graessner
Universitätsklinikum Tübingen, Institut für medizinische Genetik und angewandte Genomik
Outcome results
None listed