Hereditary Transthyretin Amyloidosis With PolyneuropthyNCT04850105
A Non-interventional Cohort Safety Study of Patients With hATTR-PN
An observational study of Hereditary Transthyretin Amyloidosis With Polyneuropthy, run by Akcea Therapeutics at 26 sites in 8 countries.
Trial summary
This is a prospective, non-interventional, Long-term, multinational cohort safety study of patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN). The overarching goal of this study is to further characterize the long-term safety of TEGSEDI (inotersen) in patients with hATTR-PN under… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Transthyretin Amyloidosis With Polyneuropthy
- What is being tested?
- Data Collection
- How many people
- 202 participants
- Where
- 26 sitesin 8 countries
- Study dates
- 21 Sep 2021to 31 Mar 2036
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The TEGSEDI-exposed cohort will consist of patients diagnosed with hATTR-PN who are receiving TEGSEDI. Data from the TEGSEDI-exposed cohort will be compared to data collected prospectively from a TEGSEDI-unexposed cohort which will consist of patients diagnosed with hATTR-PN who have not taken any dose of TEGSEDI within 25 weeks prior to enrollment and are eligible for TEGSEDI treatment per applicable product label. Patients in Europe, US, and Canada will be enrolled from centers that manage patients with hATTR-PN.
Who may be able to join
- Either:
- TEGSEDI Exposed Cohort: Patients diagnosed with hATTR-PN who have taken any dose of TEGSEDI within 25 weeks prior to enrollment
- TEGSEDI Unexposed Cohort: Patients diagnosed with hATTR-PN who have not taken any dose of TEGSEDI within 25 weeks prior to enrollment and are eligible for TEGSEDI treatment per applicable product label. Patients may take other drugs to treat hATTR-PN.
- Clinically managed in Canada, Europe, or the US
- Have provided appropriate written informed consent
Who cannot join
- None
Trial locations and contacts
26 sites in 8 countries.
26 sites in 8 countries
Italy9 sites
Study Center
Bologna, 40139
Study Center
Genova, 16132
Study Center
Messina, 98125
Study Center
Milan, 20133
Study Center
Naples, 80131
Study Center
Pavia, 27100
Study Centre
Roma, Rome, 00189
Study Center
Roma, 00133
Study Center
Roma, 00168
Spain7 sites
Study Centre
Barcelona, Catalonia, 08035
Study Center
Huelva, Andalusia, 21005
Study Centre
Madrid, Madrid, 28040
Study Center
Madrid, 28041
Study Centre
Oviedo, Avenida de Roma, 33011
Study Center
Palma de Mallorca, Balearic Islands, 07198
Study Centre
Villarreal, Barcelona, 08036
France3 sites
Study Center
Lille, Cedex, 59037
Study Centre
Nantes, 44093
Study Center
Nice, Romaine, 06001
Greece3 sites
Study Center
Athens, 115 28
Study Center
Athens, 11528
Study Center
Heraklion, 71500
About this study
Official title: A Prospective, Non-interventional, Long-term, Multinational Cohort Safety Study of Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (hATTR-PN)
This is a prospective, non-interventional, Long-term, multinational cohort safety study of patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN). The overarching goal of this study is to further characterize the long-term safety of TEGSEDI (inotersen) in patients with hATTR-PN under real-world conditions.
Read the detailed description
Study Rationale:
hATTR-PN is an inherited, progressive, fatal disease caused by misfolded transthyretin (TTR) proteins that accumulate as amyloid fibrils predominantly in the peripheral nerves, heart, gastrointestinal tract, and other organs. hATTR-PN is a rare disease and there are no large epidemiological studies that reliably provide an indication of its prevalence. The worldwide distribution is unequal, with higher rates in Portugal, Japan, Northern Sweden, and the US. Current estimates suggest there may be 10,000 afflicted patients worldwide.
TEGSEDI (inotersen) is an antisense oligonucleotide inhibitor of human TTR protein synthesis. In Europe and Canada, TEGSEDI is indicated for the treatment of Stage 1 or Stage 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis (hATTR). In the US, TEGSEDI is indicated for treatment of the polyneuropathy of hereditary TTR-mediated amyloidosis in adults. Efficacy has been demonstrated in patients with hATTR-PN, as reflected by a slowing or reversal of disease progression.
Research Question:
The overarching goal of this study is to further characterize the long-term safety of TEGSEDI in patients with hATTR-PN under real-world conditions.
Population:
Patients in Europe, US, and Canada will be enrolled from centers that manage patients with hATTR-PN. Physicians participating in the study will be instructed to invite all patients who meet study eligibility criteria to enroll until the enrollment period is closed.
- Being tested
- Data Collection
- Keywords
- Hereditary Transthyretin Amyloidosis, hATTR-PN, hATTR, Amyloidosis
- Medical subject headings
- Amyloidosis, Hereditary, Transthyretin-Related, Amyloidosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Data CollectionOther
Data on each patient will be collected at study enrollment and at each follow-up visit.
No mandatory visits, tests, or assessments are required for this study. All visits will be scheduled and conducted according to the clinical site's normal clinical practice.
| Study group | Role | What they receive |
|---|---|---|
| TEGSEDI-exposed cohort | This cohort consist of patients diagnosed with hATTR-PN who are receiving any dose of commercial TEGSEDI and who have provided written informed consent to be included into the study. Receives: Other: Data Collection | |
| TEGSEDI-unexposed cohort | This cohort which will consist of patients diagnosed with hATTR-PN who have not taken any dose of TEGSEDI within 25 weeks prior to enrollment and are eligible for TEGSEDI treatment per applicable product label and who have provided written informed consent to be included into the study. Receives: Other: Data Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Further characterization of the long-term safety of TEGSEDI in patients with hATTR-PN under real-world conditions.
- Determination of the incidence rate of thrombocytopenia in patients with hATTR-PN treated with TEGSEDI (TEGSEDI-exposed cohort)
- Comparison of the relative rates of thrombocytopenia in hATTR-PN patients treated with TEGSEDI (TEGSEDI exposed) to hATTR-PN patients unexposed to TEGSEDI (TEGSEDI- unexposed)
Measured: 10 years
Secondary outcomes (2)
Description of the incidence rate of the Adverse Events of Special Interest (AESI) in the TEGSEDI-exposed and TEGSEDI-unexposed patients.
To describe the incidence rate of the following Adverse Events of Special Interest (AESI):
- severe thrombocytopenia (platelet counts <25 x 109/L and separately, <50 x 109/L)
- serious and non-serious bleeding events
- glomerulonephritis
- hepatotoxicity/serious hepatobiliary events
- composite of stroke and/or cervicocephalic arterial dissection
- central nervous system (CNS) vasculitis
- ocular toxicity due to vitamin A deficiency
Measured: 10 years
Description of the time to onset of Adverse Events of Special Interest (AESI) in the TEGSEDI-exposed and TEGSEDI-unexposed patients.
To describe the time to onset of the following Adverse Events of Special Interest (AESI):
- severe thrombocytopenia
- serious and non-serious bleeding events
- glomerulonephritis
- hepatotoxicity/serious hepatobiliary events
- composite of stroke and/or cervicocephalic arterial dissection
- central nervous system (CNS) vasculitis
- ocular toxicity due to vitamin A deficiency
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Apr 2021
- Study start21 Sep 2021
- Primary completion31 Mar 2036 (estimated)
- Study completion31 Mar 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Transthyretin Amyloidosis With PolyneuropthyStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 202 participants (actual)
Sponsor and investigators
- Lead sponsor
- Akcea Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- United BioSource, LLC
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04850105
- Sponsor's protocol ID
- TEG4001
- Other IDs
- EUPAS37728
- Status last verified
- Jul 2026
- First submitted
- 6 Apr 2021
- Last updated
- 29 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Non-interventional, Long-term, Multinational Cohort Safety Study of Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (hATTR-PN)
- ClinicalTrials.gov ID
- NCT04850105
- Acronym / sponsor ID
- TEG4001
- Keywords
- Hereditary Transthyretin Amyloidosis, hATTR-PN, hATTR, Amyloidosis
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 202 participants (actual)
- Lead sponsor
- Akcea TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- United BioSource, LLC
- Study start
- 21 Sep 2021 (actual)
- Primary completion
- 31 Mar 2036 (estimated)
- Study completion
- 31 Mar 2036 (estimated)
- First posted
- 20 Apr 2021 (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.
This is a prospective, non-interventional, Long-term, multinational cohort safety study of patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN). The overarching goal of this study is to further characterize the long-term safety of TEGSEDI (inotersen) in patients with hATTR-PN under real-world conditions.
Detailed description
Study Rationale:
hATTR-PN is an inherited, progressive, fatal disease caused by misfolded transthyretin (TTR) proteins that accumulate as amyloid fibrils predominantly in the peripheral nerves, heart, gastrointestinal tract, and other organs. hATTR-PN is a rare disease and there are no large epidemiological studies that reliably provide an indication of its prevalence. The worldwide distribution is unequal, with higher rates in Portugal, Japan, Northern Sweden, and the US. Current estimates suggest there may be 10,000 afflicted patients worldwide.
TEGSEDI (inotersen) is an antisense oligonucleotide inhibitor of human TTR protein synthesis. In Europe and Canada, TEGSEDI is indicated for the treatment of Stage 1 or Stage 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis (hATTR). In the US, TEGSEDI is indicated for treatment of the polyneuropathy of hereditary TTR-mediated amyloidosis in adults. Efficacy has been demonstrated in patients with hATTR-PN, as reflected by a slowing or reversal of disease progression.
Research Question:
The overarching goal of this study is to further characterize the long-term safety of TEGSEDI in patients with hATTR-PN under real-world conditions.
Population:
Patients in Europe, US, and Canada will be enrolled from centers that manage patients with hATTR-PN. Physicians participating in the study will be instructed to invite all patients who meet study eligibility criteria to enroll until the enrollment period is closed.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| TEGSEDI-exposed cohort | – | Other: Data CollectionThis cohort consist of patients diagnosed with hATTR-PN who are receiving any dose of commercial TEGSEDI and who have provided written informed consent to be included into the study. |
| TEGSEDI-unexposed cohort | – | Other: Data CollectionThis cohort which will consist of patients diagnosed with hATTR-PN who have not taken any dose of TEGSEDI within 25 weeks prior to enrollment and are eligible for TEGSEDI treatment per applicable product label and who have provided written informed consent to be included into the study. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The TEGSEDI-exposed cohort will consist of patients diagnosed with hATTR-PN who are receiving TEGSEDI. Data from the TEGSEDI-exposed cohort will be compared to data collected prospectively from a TEGSEDI-unexposed cohort which will consist of patients diagnosed with hATTR-PN who have not taken any dose of TEGSEDI within 25 weeks prior to enrollment and are eligible for TEGSEDI treatment per applicable product label. Patients in Europe, US, and Canada will be enrolled from centers that manage patients with hATTR-PN.
Key inclusion criteria (5 listed)
- Either:
- Clinically managed in Canada, Europe, or the US
- Have provided appropriate written informed consent
Key exclusion criteria (1 listed)
- None
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 |
|---|---|---|
| Data CollectionData on each patient will be collected at study enrollment and at each follow-up visit. No mandatory visits, tests, or assessments are required for this study. All visits will be scheduled and conducted according to the clinical site's normal clinical practice. | Other | TEGSEDI-exposed cohort, TEGSEDI-unexposed cohort |
Primary outcome
Further characterization of the long-term safety of TEGSEDI in patients with hATTR-PN under real-world conditions.
Time frame: 10 years
* Determination of the incidence rate of thrombocytopenia in patients with hATTR-PN treated with TEGSEDI (TEGSEDI-exposed cohort) * Comparison of the relative rates of thrombocytopenia in hATTR-PN patients treated with TEGSEDI (TEGSEDI exposed) to hATTR-PN patients unexposed to TEGSEDI (TEGSEDI- unexposed)
2 secondary outcomes
Description of the incidence rate of the Adverse Events of Special Interest (AESI) in the TEGSEDI-exposed and TEGSEDI-unexposed patients.
Time frame: 10 years
Description of the time to onset of Adverse Events of Special Interest (AESI) in the TEGSEDI-exposed and TEGSEDI-unexposed patients.
Time frame: 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jul 2026.
- Individual participant dataSharing planned: No
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.
The record lists no contact. Use the official record to reach the sponsor.
26 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Transthyretin Amyloidosis With Polyneuropthy, run by Akcea Therapeutics at 26 sites in 8 countries.
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 5 inclusion and 1 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: under way, not looking for participants, as of the sponsor's last update on 29 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 26 sites in Italy, Spain, France, Greece, Bulgaria and 3 more countries. 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?
This study is still under way. Results are not available in the source record yet.
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?
Further characterization of the long-term safety of TEGSEDI in patients with hATTR-PN under real-world conditions. (time frame: 10 years). 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 29 Jul 2026.