Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

Genome-First approach could speed up rare disease diagnoses for kids

NCT ID NCT06935019

Knowledge-focused Sponsor: The Hospital for Sick Children Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study compares doing a full genome sequencing test as soon as a rare genetic disease is suspected (genomics-first) versus the usual process of waiting to see a specialist first. About 200 children referred to genetics clinics at SickKids or CHEO will take part. Researchers want to see if the genomics-first approach leads to more and faster diagnoses, and if it is cost-effective.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 200 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2025

Expected to finish

May 2028

An estimate. End dates often move.

Lead sponsor

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.

Ages

Up to 18 years

Sex

Anyone

Healthy volunteers

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

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Referral accepted to the Genetics Clinic at SickKids or CHEO within 7 days of screening for study eligibility. * Referral is for a patient that is ≤18 years old. * Reason for referral is a suspected but as-yet-undiagnosed RD * A genetic aetiology is a possible explanation for the phenotype such that genetic testing is likely to be offered in Genetics Clinic, as determined by the research team. Exclusion Criteria: * Patient has a known or suspected clinical diagnosis using established criteria of a genetic condition with low locus heterogeneity (e.g., HHT, fCCM, NF1, TSC, others) * Referral considered "Urgent" using established site criteria. * Genome-wide sequencing (exome sequencing or GS) or a comprehensive panel that encompasses all genes relevant for the reported phenotype previously completed on a clinical or research basis. * Patient or family member previously assessed by a medical geneticist within the last 2 years for the same phenotype(s). * Patient lacks Ontario Health Insurance Plan (OHIP) or comparable coverage (as this will limit options for standard genetic testing). * Referral is solely to facilitate familial variant testing or for genetic counselling. * A family member is already enrolled in the study and was referred for the same indication. * Patient/family does not provide informed consent to participate within 2 weeks of being approached.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Genetic conditions are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

hereditary disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Genetic conditions

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    2 sites. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Children's Hospital of Eastern Ontario

    Ottawa, Ontario, K1H 5B2, Canada

  • The Hospital for Sick Children

    Toronto, Ontario, M5G 0A4, Canada

More trials for these conditions

Other studies related to the condition(s) this trial covers.