Hereditary Amyloidosis, Transthyretin-RelatedEDONANCT05311488
Early Detection of Neuropathy in ATTRv
An observational study of Hereditary Amyloidosis, Transthyretin-Related, run by University of Pennsylvania at 1 site in United States.
Trial summary
The purpose of the study is to evaluate and compare different tools that are used to detect evidence of peripheral neuropathy in patients with TTRv. Read more about this study
- Who is it for?
- Ages 30 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Hereditary Amyloidosis, Transthyretin-Related
- What is being tested?
- neurofilament light chain, In-vivo Meissner Corpuscle imaging and Nerve conduction study
- How many people
- 47 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Feb 2022to 14 Feb 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 30 to 90 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: ATTRv symptomatic, asymptomatic and control.
Who may be able to join
- Patients with known TTR mutations and neuropathy
- Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease
- Age criteria must meet the following:
- Non V122I mutations, Age 40 or older.
- V122 I mutations, 55 or older.
- Healthy persons without neuropathy
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- The following distribution of age ranges will be considered when enrolling healthy participants:
- 5 patients age 30-40
- 5 patients age 40-50
- 5 patients age 50-60
- 5 patients age 60-70
- Healthy control subjects for this study are defined as subjects with no symptoms of neuropathy or risk factors for neuropathy such as family history of hereditary neuropathy, chemotherapy, diabetes, autoimmune disease, or vitamin deficiency. Their status will be verified by medical records review.
Who cannot join
- Patients with neuropathy other than TTR amyloid
- Subjects with risk factors for neuropathy (diabetes, history of neuropathy in the family, neurotoxic drugs) or with neurological disorder associated with elevated NFL
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
About this study
Official title: Early Detection of Peripheral Neuropathy in Hereditary Transthyretin Amyloidosis
The purpose of the study is to evaluate and compare different tools that are used to detect evidence of peripheral neuropathy in patients with TTRv.
Read the detailed description
Early detection of peripheral neuropathy in patients with TTRv is important to support initiation of therapy that alters the course of the disease. Current tools used to detect peripheral neuropathy may not be sensitive, especially in very early and distal peripheral neuropathy. This study will compare different methods of assessing for peripheral neuropathy including using in-vivo reflectance confocal microscopy to assess for meissner corpuscles, serum neurofilament light chain, quantitative sensory testing, neuropathy impairement scores, nerve conduction studies and quality of life and symptoms questionnaires.
- Being tested
- neurofilament light chain, In-vivo Meissner Corpuscle imaging, Nerve conduction study
- Keywords
- transthryretin, Hereditary transthyretin amyloidosis, TTRv, familial amyloid polyneuropathy
- Medical subject headings
- Amyloidosis, Hereditary, Transthyretin-Related, Amyloid Neuropathies, Familial
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
neurofilament light chainDiagnostic test
Blood test
In-vivo Meissner Corpuscle imagingDiagnostic test
Imaging
Nerve conduction studyDiagnostic test
Nerve conduction study
| Study group | Role | What they receive |
|---|---|---|
| Symptomatic TTRv | Patients with known TTR mutations and neuropathy Receives: Diagnostic Test: neurofilament light chain; Diagnostic Test: In-vivo Meissner Corpuscle imaging; Diagnostic Test: Nerve conduction study | |
| Asymptomatic TTRv | Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease Receives: Diagnostic Test: neurofilament light chain; Diagnostic Test: In-vivo Meissner Corpuscle imaging; Diagnostic Test: Nerve conduction study | |
| Healthy controls | Age and sex matched healthy controls without neuropathy or other neurological disorder. Receives: Diagnostic Test: neurofilament light chain; Diagnostic Test: In-vivo Meissner Corpuscle imaging; Diagnostic Test: Nerve conduction study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Serum neurofilament light chain
Change in Serum neurofilament light chain concentration at 12 months
Measured: 12 months
Meissner corpuscles
Change in Meissner corpuscles density at 12 months
Measured: 12 months
Secondary outcomes (3)
Quantitative sensory testing
Testing of vibratory sensation using a tuning fork, testing of light touch using neurofilament
Measured: 12 months
Neuropathy symptoms questionnaire
Questionnaire that assess symptoms of neuropathy and severity.
Measured: 12 months
Neuropathy impairment score
Neurological examination reporting motor strength, reflexes and sensation. Scale ranges from 0 (normal) to 244, with a higher score indicating greater impairment.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Apr 2022
- Study start14 Feb 2022
- Primary completion1 Nov 2025
- Study completion14 Feb 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Amyloidosis, Transthyretin-RelatedStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 47 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Collaborators
- Ionis Pharmaceuticals, Inc., AstraZeneca
- Responsible party
- Sponsor
- Investigators
- Chafic Karam, MD, Principal investigator, University of PennsylvaniaBrian Drachman, Principal investigator, University of PennsylvaniaSami Khella, MD, Principal investigator, University of PennsylvaniaJanice Pieretti, MD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05311488
- Sponsor's protocol ID
- 849579
- Acronym
- EDONA
- Status last verified
- Mar 2026
- First submitted
- 16 Mar 2022
- Last updated
- 12 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Detection of Peripheral Neuropathy in Hereditary Transthyretin Amyloidosis
- ClinicalTrials.gov ID
- NCT05311488
- Acronym / sponsor ID
- EDONA / 849579
- Keywords
- transthryretin, Hereditary transthyretin amyloidosis, TTRv, familial amyloid polyneuropathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 47 participants (actual)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Collaborators
- Ionis Pharmaceuticals, Inc., AstraZeneca
- Study start
- 14 Feb 2022 (actual)
- Primary completion
- 1 Nov 2025 (actual)
- Study completion
- 14 Feb 2026 (actual)
- First posted
- 5 Apr 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of the study is to evaluate and compare different tools that are used to detect evidence of peripheral neuropathy in patients with TTRv.
Detailed description
Early detection of peripheral neuropathy in patients with TTRv is important to support initiation of therapy that alters the course of the disease. Current tools used to detect peripheral neuropathy may not be sensitive, especially in very early and distal peripheral neuropathy. This study will compare different methods of assessing for peripheral neuropathy including using in-vivo reflectance confocal microscopy to assess for meissner corpuscles, serum neurofilament light chain, quantitative sensory testing, neuropathy impairement scores, nerve conduction studies and quality of life and symptoms questionnaires.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Symptomatic TTRv | – | Diagnostic Test: neurofilament light chain, Diagnostic Test: In-vivo Meissner Corpuscle imaging, Diagnostic Test: Nerve conduction studyPatients with known TTR mutations and neuropathy |
| Asymptomatic TTRv | – | Diagnostic Test: neurofilament light chain, Diagnostic Test: In-vivo Meissner Corpuscle imaging, Diagnostic Test: Nerve conduction studyPatients with TTR mutation and no symptoms within less than 10 years of typical onset of disease |
| Healthy controls | – | Diagnostic Test: neurofilament light chain, Diagnostic Test: In-vivo Meissner Corpuscle imaging, Diagnostic Test: Nerve conduction studyAge and sex matched healthy controls without neuropathy or other neurological disorder. |
Who may qualify
- Ages
- 30 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- ATTRv symptomatic, asymptomatic and control.
Key inclusion criteria (12 listed)
- Patients with known TTR mutations and neuropathy
- Patients with TTR mutation and no symptoms within less than 10 years of typical onset of disease
- Age criteria must meet the following:
- Healthy persons without neuropathy
- The following distribution of age ranges will be considered when enrolling healthy participants:
Key exclusion criteria (2 listed)
- Patients with neuropathy other than TTR amyloid
- Subjects with risk factors for neuropathy (diabetes, history of neuropathy in the family, neurotoxic drugs) or with neurological disorder associated with elevated NFL
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| neurofilament light chainBlood test | Diagnostic test | Asymptomatic TTRv, Healthy controls, Symptomatic TTRv |
| In-vivo Meissner Corpuscle imagingImaging | Diagnostic test | Asymptomatic TTRv, Healthy controls, Symptomatic TTRv |
| Nerve conduction studyNerve conduction study | Diagnostic test | Asymptomatic TTRv, Healthy controls, Symptomatic TTRv |
Primary outcome
Change in Serum neurofilament light chain
Time frame: 12 months
Change in Serum neurofilament light chain concentration at 12 months
Meissner corpuscles
Time frame: 12 months
Change in Meissner corpuscles density at 12 months
3 secondary outcomes
Quantitative sensory testing
Time frame: 12 months
Neuropathy symptoms questionnaire
Time frame: 12 months
Neuropathy impairment score
Time frame: 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Mar 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Chafic Karam, MD principal investigator
University of Pennsylvania
Brian Drachman principal investigator
University of Pennsylvania
Sami Khella, MD principal investigator
University of Pennsylvania
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Amyloidosis, Transthyretin-Related, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 12 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Serum neurofilament light chain (time frame: 12 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Mar 2026.