Specialities

Specialities

Alzheimer's Disease and Dementia
Brain Trauma
COVID-19
Epilepsy
Headache Disorders
Neurodegenerative Diseases
Movement Disorders
Multiple Sclerosis
Neuroimmunology
Neurological Oncology
Neurometabolic Disease
Neuromuscular Diseases
Neuropathic Pain
Stroke
Neurosurgery
Paediatric Neurology
Parkinson's Disease
Psychiatric Disorders
Rare Diseases
Sleep Disorders
Central Nervous Disorders
Neuroradiology
Search

Trending Topic

Motor neuron synapses with muscle fiber via electrical impulse transmission and neurotransmitter release, forming neuromuscular junctions , motor neuron, neuroscience
15 mins

Trending Topic
Developed by Touch
Mark CompleteCompleted
BookmarkBookmarked

SOD1-ALS from Gene Discovery to Targeted Therapeutics: A Comprehensive Review

Joshua Newman, Phillipe Corcia, Angela Genge

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of upper and lower motor neurons that results in progressive motor impairment. ALS is the most common disease of motor neurons with an annual incidence of approximately 1.7–2.5 per 100,000 people. It is a terminal condition with a typical life expectancy of 2–5 years from symptom onset. […]

touchREVIEWS in Neurology. 2025;21(1):Online ahead of journal publication

Connect With Us:

Facebook
X (Twitter)
Instagram
Youtube
Linkedin
touchEXPERT FOCUS
CE/CME accredited

Focus on treatment advances for ATTRv: A heterogeneous, highly debilitating and ultimately fatal disease

Topics Covered:
Neurodegenerative Diseases Rare Diseases
Share
Facebook
X (formerly Twitter)
LinkedIn
Via Email
Mark CompleteCompleted
BookmarkBookmarked
Copy LinkLink Copied
Claim Credit
Audio Version
Add Note

Tutorial

These icons indicate there is something to be interacted with. Click it when you see it.

Poll

How confident are you in identifying red flags that suggest ATTRv in practice?

Submit your answer to see the results and continue the video
Very confident
   
Somewhat confident
   
Not very confident
   
Not at all confident
   
Open Nav Add Note
About this activity
About Dr Chafic Karam

About this activity

This activity explores red-flag symptoms, diagnostic urgency and treatment advances in ATTRv amyloidosis.

About Dr Chafic Karam

Dr Chafic Karam is professor of neurology, chief of the Neuromuscular Division, and director of the Neuromuscular Fellowship Program at the University of Pennsylvania.

read more

Dr Karam is board certified in neurology and neuromuscular medicine by the American Board of Psychiatry and Neurology and board certified in muscle and nerve pathology. He serves as an ad hoc reviewer for 25 different journals, sits on the editorial boards of Muscle & Nerve and Annals of Clinical and Translational Neurology, and is an associate editor for BMC. He has also served as deputy editor for Neurology and as a member of the Global Medical Advisory Board for Guillain–Barré Syndrome and Chronic Inflammatory Demyelinating Polyneuropathy (GBS/CIDP).

Dr Karam has been an investigator on over 50 clinical trials and has authored over 100 publications. His clinical research focuses on neuropathy, specifically those related to amyloidosis and autoimmune conditions, such GBS, CIDP, multifocal motor neuropathy and vasculitic neuropathies.

Dr Chafic Karam discloses: Consultancy fees from Alexion, Alnylam Pharmaceuticals, Alpine Pharmaceuticals, Amgen, Amicus Therapeutics, Annexon Biosciences, Argenx, AstraZeneca, Biogen, Corino Therapeutics, CSL Behring, Genentech, Ionis, J&J, Neuroderm, Novo Nordisk, Octapharma, Pfizer, Sanofi, Takeda, UCB, Vertex and Zai Lab. Grants/research support from Argenx, Genzyme and Ionis.

Focus Questions

What is ATTRv and how does the clinical presentation vary between patients?

Start Time: 0:27

What evidence is there that early diagnosis of ATTRv can improve patient outcomes, and how does timely intervention affect survival and quality of life?

Start Time: 3:04

What are the key red flag symptoms of ATTRv-PN and ATTRv-CM that clinicians should be particularly alert to during patient evaluation?

Start Time: 4:39

Can you walk us through the steps involved in diagnosing ATTRv, from initial suspicion to confirmed diagnosis, and highlight any common challenges that may be experienced through this journey?

Start Time: 7:17

What are the main reasons for delayed diagnosis of ATTRv, and what practical strategies can be implemented in clinical practice to achieve earlier and more accurate diagnoses?

Start Time: 10:32

What is the role of TTR stabilizers in the treatment of both ATTRv-PN and ATTRv-CM, including the latest clinical evidence on their efficacy and limitations?

Start Time: 11:31

What is the current evidence supporting use of the ‘gene silencers’ in treating ATTRv-PN and ATTRv-CM?

Start Time: 13:22

What are the emerging therapeutic strategies for ATTRv, and how might these impact clinical practice and change the disease landscape for patients in the future?

Start Time: 15:34

Claim Credit

touchEXPERT FOCUS

Focus on treatment advances for ATTRv: A heterogeneous, highly debilitating and ultimately fatal disease

0.5 CE/CME credit

Question 1 of 5

Which of the following is a key clinical red flag symptom of ATTRv that should raise suspicion for the disease?

ATTRv, hereditary transthyretin amyloidosis.

Check Answer
Select an Answer

For patients presenting with neurologic signs/symptoms, key red flags for raising suspicion of ATTRv are the rate of neuropathy progression and/or accompanying comorbidities, including carpal tunnel syndrome, autonomic dysfunction, gastrointestinal dysmotility and heart failure with preserved ejection fraction.1,2

Abbreviation

ATTRv, hereditary transthyretin amyloidosis.

References

  1. Karam C, et al. Muscle Nerve. 2024;69:273–87.
  2. Adams D, et al. J Neurol. 2021;268:2109–22.
Back to Question
Back to Activity
Next Question
Complete Question 1

Claim Credit

touchEXPERT FOCUS

Focus on treatment advances for ATTRv: A heterogeneous, highly debilitating and ultimately fatal disease

0.5 CE/CME credit

Question 2 of 5

A 58-year-old patient presents with a 1-year history of progressive numbness and weakness in the feet and hands and new onset orthostatic dizziness. They have no significant family history and were previously diagnosed with diabetic neuropathy. Genetic testing reveals a pathogenic TTR variant. What is your next step for this patient?

ATTRv, hereditary transthyretin amyloidosis; TTR, transthyretin.

Check Answer
Select an Answer

For patients with unexplained progressive peripheral neuropathy, even with no additional red flags indicative of ATTRv amyloidosis, genetic testing is key for confirming ATTRv and ruling out other causes of neuropathies. In non-endemic regions, such as the USA, where disease presentation is variable, a diagnosis of ATTRv amyloidosis may not always be reached based on a confirmed TTR variant alone, as other co-existing conditions can lead to similar symptoms. A tissue biopsy is, therefore, recommended to confirm TTR amyloid deposition and ensure accurate diagnosis, especially in cases with confounding comorbidities. In the absence of a definitive biopsy result, cardiac technetium-based tracer scintigraphy scanning may be used to detect TTR amyloid, if available.

Abbreviations

ATTRv, hereditary transthyretin amyloidosis; TTR, transthyretin.

Reference

Karam C, et al. Muscle Nerve. 2024;69:273–87.

Back to Question
Prev Question
Next Question
Complete Question 2

Claim Credit

touchEXPERT FOCUS

Focus on treatment advances for ATTRv: A heterogeneous, highly debilitating and ultimately fatal disease

0.5 CE/CME credit

Question 3 of 5

What is the mechanism of action of vutrisiran, used for the treatment of ATTRv?

ASO, antisense oligonucleotide; ATTRv, hereditary transthyretin amyloidosis; siRNA, small interfering ribonucleic acid; TTR, transthyretin.

Check Answer
Select an Answer

Vutrisiran is a chemically modified double-stranded siRNA that targets mutant and wild-type TTR mRNA and is covalently linked to a ligand containing three N-acetylgalactosamine residues to enable delivery of the siRNA to hepatocytes,1 the primary site of TTR synthesis.2 Vutrisiran causes degradation of mutant and wild-type TTR mRNA through RNA interference, which results in a reduction of serum TTR protein and TTR protein deposits in tissues.1

Abbreviations

mRNA, messenger ribonucleic acid; siRNA, small interfering ribonucleic acid; TTR, transthyretin.

References

  1. FDA. Vutrisiran PI. Available at: https://bit.ly/40kIR9b (accessed 15 July 2025).
  2. Adams D, et al. Amyloid. 2023;30;18–26.
Back to Question
Prev Question
Next Question
Complete Question 3

Claim Credit

touchEXPERT FOCUS

Focus on treatment advances for ATTRv: A heterogeneous, highly debilitating and ultimately fatal disease

0.5 CE/CME credit

Question 4 of 5

Your patient is initiating TTR stabilizer therapy for the treatment of cardiomyopathy of ATTRv. They ask about what to expect in terms of prognosis. How should you counsel them?

ATTRv, hereditary transthyretin amyloidosis; CV, cardiovascular; TTR, transthyretin.

Check Answer
Select an Answer

Clinical trial data for tafamidis and acoramidis, TTR stabilizers approved by the FDA for the treatment of cardiomyopathy of ATTRv or ATTR-WT,1,2 have shown a reduction in all-cause mortality and CV-related hospitalizations compared with placebo.3,4 However, TTR stabilizers are unable to significantly affect pre-existing amyloid fibrils, which can continue to spread and cause organ damage,5 nor reverse damage caused by amyloid deposits.6

Abbreviations

ATTRv, hereditary transthyretin amyloidosis; ATTR-WT, wild-type transthyretin amyloidosis; CV, cardiovascular; FDA, US Food and Drug Administration; TTR, transthyretin.

References

  1. FDA. Tafamidis PI. Available at: http://bit.ly/4ejVcQF (accessed 15 July 2025)
  2. FDA. Acoramidis PI. Available at: https://bit.ly/4nPQJd4 (accessed 15 July 2025).
  3. Damy T, et al. Eur J Heart Fail. 2021;23:277–85.
  4. Gillmore JD, et al. N Engl J Med. 2024;390:132–42.
  5. Morfino P, et al. Pharmaceutics. 2023;15:1129.
  6. Amyloidosis Research Consortium. 2024. Available at: https://bit.ly/4nxpAeO (accessed 15 July 2025).
Back to Question
Prev Question
Next Question
Complete Question 4

Claim Credit

touchEXPERT FOCUS

Focus on treatment advances for ATTRv: A heterogeneous, highly debilitating and ultimately fatal disease

0.5 CE/CME credit

Question 5 of 5

Your 63-year-old patient has a confirmed diagnosis of polyneuropathy of ATTRv. They live in a remote area and are unable to travel to the clinic regularly. Assuming all therapies are available, which treatment option would you select for this patient based on its administration method?

ATTRv, hereditary transthyretin amyloidosis.

Check Answer
Select an Answer

Eplontersen is FDA approved for the treatment of adults with polyneuropathy of ATTRv.1 Administration is via subcutaneous injection once monthly into the abdomen or upper thigh region, and may be given by the patient or patient caregiver following training.1 The back of the upper arm can also be used as an injection site if a healthcare provider or caregiver administers the injection.1 Self-administration of eplontersen via an autoinjector allows patients to manage their condition at home.2

Abbreviations

ATTRv, hereditary transthyretin amyloidosis; FDA, US Food and Drug Administration.

References

  1. FDA. Eplontersen PI. Available at: https://bit.ly/3G0HPZf (accessed 15 July 2025).
  2. Qazi SQ, et al. Ann Med Surg. 2024;86:4336–7.
Back to Question
Prev Question
Next Step
Complete Question 5

Got 2 minutes?

Your feedback is important to us.

1
Strongly Disagree
5
Strongly Agree
*
Mandatory Field

We’d love to hear your feedback on this activity. It helps us to continually improve our products.

The following educational objectives for this activity were met

Back to Activity
Next Step
Complete Step 1

Got 2 minutes?

Your feedback is important to us.

Back
Next Step
Complete Step 2

Got 2 minutes?

Your feedback is important to us.

Back
Next Step
Complete Step 3
Submit Feedback Submit Feedback
Complete Above Form

Please complete the below so we can prepare your certificate download.

touchEXPERT FOCUS

Focus on treatment advances for ATTRv: A heterogeneous, highly debilitating and ultimately fatal disease

0.5 CE/CME credit
Back
Submit Accreditation Submit Accreditation
Complete Above Form
touchNEUROLOGY

Check your Inbox

We've sent your certificate

Back to Activity
Close Popup
touchNEUROLOGY

Thank you
for your Feedback!

Back to Activity
Close Popup

Video Navigation

Focus Questions

What is ATTRv and how does the clinical presentation vary between patients?

Start Time: 0:27

What evidence is there that early diagnosis of ATTRv can improve patient outcomes, and how does timely intervention affect survival and quality of life?

Start Time: 3:04

What are the key red flag symptoms of ATTRv-PN and ATTRv-CM that clinicians should be particularly alert to during patient evaluation?

Start Time: 4:39

Can you walk us through the steps involved in diagnosing ATTRv, from initial suspicion to confirmed diagnosis, and highlight any common challenges that may be experienced through this journey?

Start Time: 7:17

What are the main reasons for delayed diagnosis of ATTRv, and what practical strategies can be implemented in clinical practice to achieve earlier and more accurate diagnoses?

Start Time: 10:32

What is the role of TTR stabilizers in the treatment of both ATTRv-PN and ATTRv-CM, including the latest clinical evidence on their efficacy and limitations?

Start Time: 11:31

What is the current evidence supporting use of the ‘gene silencers’ in treating ATTRv-PN and ATTRv-CM?

Start Time: 13:22

What are the emerging therapeutic strategies for ATTRv, and how might these impact clinical practice and change the disease landscape for patients in the future?

Start Time: 15:34

Listen on the Go

Listen on Amazon Music
Listen on Apple Podcasts
Listen on Spotify
Close Popup

Learning Objectives & Overview

Claim Credit
Feedback

Learning Objectives

After watching this activity, participants should be better able to:

  • Explain the rationale and strategies for an expedited assessment for ATTRv in patients presenting with potential red-flag symptoms
  • Outline approved and emerging therapeutic strategies for treating different presentations of ATTRv and their role in improving patient outcomes

Overview

In this activity, Dr Karam, an expert in neurology, provides guidance on diagnosing and managing ATTRv amyloidosis, a rare, progressive and often fatal disease if untreated. This programme highlights the importance of recognizing red-flag symptoms; ensuring timely diagnosis; addressing key clinical questions on differentiating ATTRv; selecting appropriate therapies; and integrating emerging treatments, such as TTR stabilizers, gene silencers and novel approaches to improve patient outcomes.

This activity is jointly provided by USF Health and touchIME.

Target Audience

This activity has been designed to meet the educational needs of neurologists, cardiologists, clinical geneticists, primary care physicians, advanced practice clinicians and nurses involved in the management of patients with ATTRv.

USF Accreditation

Disclosures

USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant relationships are listed below. All individuals not listed have no relevant financial relationships.

Faculty

Dr Chafic Karam discloses: Consultancy fees from Alexion, Alnylam Pharmaceuticals, Alpine Pharmaceuticals, Amgen, Amicus Therapeutics, Annexon Biosciences, Argenx, AstraZeneca, Biogen, Corino Therapeutics, CSL Behring, Genentech, Ionis, J&J, Neuroderm, Novo Nordisk, Octapharma, Pfizer, Sanofi, Takeda, UCB, Vertex and Zai Lab. Grants/research support from Argenx, Genzyme and Ionis.

Content Reviewer

Danielle Walker, DNP, APRN, AGNP-C has no relevant financial relationships to disclose.

touchIME Medical Contributor

Kathy Day has no financial interests/relationships or affiliations in relation to this activity.

USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

If you have questions regarding credit please contact cpdsupport@usf.edu.

Accreditations

Physicians

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

USF Health designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Advanced Practice Providers

Physician Assistants may claim a maximum of 0.5 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

Date of original release: 30 July 2025. Date credits expire: 30 July 2026.

If you have any questions regarding credit please contact cpdsupport@usf.edu.

Nurses

USF Health is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation.

A maximum of 0.5 contact hour(s) may be earned by learners who successfully complete this continuing professional development activity. USF Health, the accredited provider, acknowledges touchIME as the joint provider in the planning and execution of this CNE activity.

This activity is awarded 0.5 ANCC pharmacotherapeutic contact hour.

Date of original release: 30 July 2025. Date credits expire: 30 July 2026.

If you have any questions regarding credit please contact cpdsupport@usf.edu

You Might Also Like9

Navigation Podcast Add Note

Video Navigation

Focus Questions

What is ATTRv and how does the clinical presentation vary between patients?

Start Time: 0:27

What evidence is there that early diagnosis of ATTRv can improve patient outcomes, and how does timely intervention affect survival and quality of life?

Start Time: 3:04

What are the key red flag symptoms of ATTRv-PN and ATTRv-CM that clinicians should be particularly alert to during patient evaluation?

Start Time: 4:39

Can you walk us through the steps involved in diagnosing ATTRv, from initial suspicion to confirmed diagnosis, and highlight any common challenges that may be experienced through this journey?

Start Time: 7:17

What are the main reasons for delayed diagnosis of ATTRv, and what practical strategies can be implemented in clinical practice to achieve earlier and more accurate diagnoses?

Start Time: 10:32

What is the role of TTR stabilizers in the treatment of both ATTRv-PN and ATTRv-CM, including the latest clinical evidence on their efficacy and limitations?

Start Time: 11:31

What is the current evidence supporting use of the ‘gene silencers’ in treating ATTRv-PN and ATTRv-CM?

Start Time: 13:22

What are the emerging therapeutic strategies for ATTRv, and how might these impact clinical practice and change the disease landscape for patients in the future?

Start Time: 15:34

Add a Note

Note Time: 00:00
Save Note
touchEXPERT FOCUS

This activity is for healthcare professionals in the USA only.

This activity is funded by an independent medical education grant from AstraZeneca.

This activity is jointly provided by USF Health and touchIME.

Continue
Decline

Close Popup
touchNEUROLOGY

Could not verify Country/IP Address.

We were unable to verify your IP address, please try again later. If you are using a method to hide your IP address, such as a VPN or proxy, please disable this and try again.

Return to Homepage
touchNEUROLOGY touchNEUROLOGY

Register now for FREE access to

  • 1000+ topical and insightful peer-reviewed journal articles
  • 100+ hours of bite-sized congress highlights
  • 10 major therapy areas packed with the latest scientific advances
  • 150+ specialties offering learn-on-the-go medical education
  • Concise email updates and newsletters so you never miss out

This activity is funded by:

An independent medical education grant from AstraZeneca.

The activity is jointly provided by USF Health and touchIME.

The information provided by this CME activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

USF is an Equal Opportunity / Affirmative Action / Equal Access Institution.

USF Health is accredited by the Accreditation Council for Continuing Medical Education, the American Nurses Credentialing Center and the Accreditation Council for Pharmacy Education to provide continuing education to healthcare professionals. As an accredited provider, USF Health is required to disclose personal information to relevant accredited bodies that certify CME to process credits/contact hours, comply with reporting requirements, and for internal recordkeeping and regulatory purposes. USF Health does not share or sell any individual’s contact information or unique identifiers to any commercial supporter, advertiser, or third party without the specific permission of the individual.

Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by touchIME and USF Health to ensure that they disclose any such references made to unlabeled or unapproved use. No endorsement by touchIME or USF Health of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in touchIME or USF Health activities. touchIME and USF Health accept no responsibility for errors or omissions.

This content is intended for healthcare professionals in the USA only.

Date of original release: 30 July 2025.

AMA PRA Category 1 Credit ™ expire: 30 July 2026

Latest Medical Education - straight to your inbox

Close Popup