Blood marker may predict nerve damage onset in rare genetic disease
NCT ID NCT06360289
First seen Jun 26, 2026 · Last updated Aug 13, 2026 · Updated 3 times
Summary
This observational study is looking at a protein called neurofilament light chain (NfL) in the blood of people who carry a gene variant for hereditary ATTR amyloidosis, both those without symptoms and those with nerve damage. Researchers want to see if NfL levels can help detect when the disease starts, how it progresses, and how well treatments work. About 346 participants are being followed over time, but no new drugs are being tested.
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 show that a simple blood test (NfL) helps doctors detect when the disease starts and monitor how it progresses, leading to earlier treatment decisions.
- What could go wrong
- This is an observational study, not a treatment trial. It only measures a biomarker, so it cannot prove that NfL improves patient outcomes. Results may not change current care.
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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346 people
The number who actually took part.
- Started
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Apr 2024
- Expected to finish
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Dec 2027
An estimate. End dates often move.
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Study will include asymptomatic carriers of TTR variants or symptomatic patients with hATTR amyloidosis with polyneuropathy who review and confirm their understanding of the Patient Information Sheet (PIS) provided and do not oppose participating in the study at Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP).
- 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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Accepted
You do not need to have the condition being studied to take part.
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: \- Carrier of a documented pathogenic TTR variant confirmed with genotyping with predicted disease onset within 5 years and not diagnosed with hATTR amyloidosis with polyneuropathy OR Confirmed diagnosis of hATTR amyloidosis with polyneuropathy with a documented TTR variant confirmed with genotyping \- Participant is able to understand the study and does not oppose participating in the study after reviewing the content of the PIS provided. Exclusion Criteria: * A known condition (other than hATTR amyloidosis) that can cause nerve damage and affect NfL levels * Estimated glomerular filtration rate (eGFR) \<45 milliliters per minute per 1.73 meters squared (mL/min/1.73 m\^2) * Currently enrolled in a clinical study for any investigational agent.
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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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Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP)
Paris, Île-de-France Region, 94270, France
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