New model aims to speed up rare disease diagnosis
NCT ID NCT07558213
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study is testing a new way to care for people with rare diseases. It will use advanced genetic testing and a team of specialists to help diagnose patients faster and coordinate their care better. The study involves 136 participants with certain rare diseases and aims to reduce the time to diagnosis and improve follow-up.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could lead to faster diagnoses and better coordinated care for people with rare diseases.
- What could go wrong
- This is an observational study focused on improving processes, not testing a new treatment. It is small and may not apply to all rare diseases.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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136 people
The number who actually took part.
- Started
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Oct 2023
- Expected to finish
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May 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with complex syndromic RDs without a genetic diagnosis, ultra-rare diseases with or without a genetic confirmation, muscular dystrophies, mitochondrial disorders.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * complex syndromic RDs without a genetic diagnosis, ultra-rare diseases with or without a genetic confirmation, muscular dystrophies, mitochondrial disorders * Evidence of a personally signed and dated informed consent document indicating that the subject has been informed of all pertinent aspects of the study Exclusion Criteria: * inability to understand or unwilling to follow the study requirements including attendance at the study center, completion of questionnaires and participation in laboratory testing as called for by the protocol * inability to sign an informed consent; * severe psychiatric diseases.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Fondazione Policlinico Universitario A. Gemelli Irccs
Roma, 00168, Italy
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Other studies related to the condition(s) this trial covers.
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