Rare diseases
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Recruiting trials first
4 clinical trials in this condition
Cyprus
FranceFrance
BelgiumIn short
There are currently 4 clinical trials underway for hereditary neuropathic amyloidosis (also known as hereditary transthyretin amyloidosis with polyneuropathy, hATTR-PN, ATTRv-PN). These studies are investigating new treatments aimed at reducing the buildup of abnormal proteins that damage nerves and other organs. The trials are taking place across multiple European countries and involve different types of therapies, including antisense oligonucleotides, gene-editing approaches, and RNA interference medications.
This study is examining the long-term safety and effectiveness of eplontersen, a medication designed to reduce the production of abnormal transthyretin protein that causes nerve damage in patients with hereditary transthyretin-mediated amyloid polyneuropathy.
Main inclusion criteria: Participants must have successfully completed a previous study with eplontersen or a related medication called inotersen. They must be willing to provide written informed consent and follow all study requirements. Women of childbearing age must not be pregnant or breastfeeding and must agree to use effective contraception. Men must also agree to ensure their partners use contraception during the study and for 24 weeks after the last dose. Participants must be willing to take vitamin A supplements as required.
Main exclusion criteria: The study excludes patients with other serious health conditions that could interfere with the trial, those currently participating in another clinical trial, those who have had or are planning major surgery during the study period, and those with a history of allergic reactions to similar medications. Pregnant or breastfeeding women, patients with substance abuse or alcohol dependency, and those unable to comply with study procedures are also excluded. Additional exclusions include patients with certain viral infections like HIV or hepatitis, specific heart conditions, or uncontrolled high blood pressure.
Focus and goals: The trial monitors how safe and well-tolerated eplontersen is when used over an extended period. Throughout the study, researchers will track various health indicators including blood tests, kidney function, and liver enzymes. Participants will also be asked about any side effects they experience and will undergo regular physical examinations and heart tests. The study assesses changes in symptoms and quality of life using specific questionnaires and scores to determine if the treatment effectively manages symptoms.
Investigational drug: Eplontersen is an antisense oligonucleotide medication given as injections under the skin. It works by targeting and reducing the production of the abnormal protein that damages nerves in this condition.
This trial is testing NTLA-2001, a new type of therapy that uses CRISPR/Cas9 gene-editing technology to target the TTR gene responsible for the disease. The study is divided into two parts to evaluate different dose levels and expand understanding of the treatment's effects.
Main inclusion criteria: Participants must be between 18 and 80 years old and have a diagnosis of polyneuropathy due to transthyretin amyloidosis, confirmed by a documented TTR gene mutation. They must have a Neuropathy Impairment Score between 5 and 130 and a Polyneuropathy Disability score of 3b or less during screening. Participants must weigh at least 45 kg and meet specific laboratory test criteria, including normal levels of liver enzymes, adequate kidney function, normal blood clotting factors, and specific heart and cholesterol markers. They must either lack access to approved treatments or have worsening symptoms despite current treatment. Female participants must be postmenopausal or surgically sterile.
Main exclusion criteria: Patients who have a different condition than hereditary transthyretin amyloidosis with polyneuropathy cannot participate. Those not within the specified age range, those who are part of a vulnerable population, and those who have not previously received specific doses of NTLA-2001 for certain study parts are excluded.
Focus and goals: The study evaluates the safety and how well the body tolerates NTLA-2001, as well as how the drug moves through and affects the body. In Part 1, patients receive a single dose to assess their response. Part 2 expands to include more patients to further assess treatment effects. Some patients who previously received a smaller dose may receive a follow-up dose. Throughout the study, various assessments monitor safety, immune reactions, drug processing, and changes in polyneuropathy symptoms.
Investigational drug: NTLA-2001 is administered as an intravenous infusion and uses CRISPR technology to edit genes responsible for producing the faulty transthyretin protein, aiming to reduce its production. It represents a novel gene-editing therapy approach.
This study is comparing two treatments for hereditary transthyretin amyloidosis: vutrisiran (ALN-TTRSC02) and patisiran (Onpattro). The trial aims to assess how effective and safe these treatments are in reducing the effects of the disease on the nervous system.
Main inclusion criteria: Participants must be between 18 and 85 years old (or older if that is the legal age of consent). They must have a diagnosis of hereditary transthyretin amyloidosis caused by a change in the TTR gene. Participants must have a Neuropathy Impairment Score between 5 and 130 and a Polyneuropathy Disability score of 3b or less, both confirmed during screening. They must have a Karnofsky Performance Status of 60% or higher, which evaluates the ability to perform daily activities. Participants must be willing and able to follow study requirements and provide written consent.
Main exclusion criteria: While specific exclusion criteria are not fully detailed in the source data, standard exclusions for such trials typically include other serious health conditions that could interfere with the study, pregnancy, and inability to comply with study procedures.
Focus and goals: The study is an open-label trial, meaning both participants and the study team know which treatment is being administered. Participants are randomly assigned to receive either vutrisiran or patisiran. The trial monitors the effect of the treatment on neurologic impairment and other health parameters, including quality of life, walking ability, and body mass index. Regular monitoring and assessments track progress throughout the study, with a final evaluation measuring changes from baseline expected by May 2026.
Investigational drugs: Vutrisiran is administered as a solution for injection under the skin, while patisiran is given as a solution for infusion. Both are RNA interference therapeutics that target and reduce the production of transthyretin protein responsible for disease progression.
The four ongoing clinical trials for hereditary neuropathic amyloidosis reflect a diverse approach to treating this rare genetic disorder. The trials are spread across multiple European countries, with France and Sweden participating in three trials each, followed by Cyprus, Portugal, Spain, and Italy with two trials each. Belgium, Bulgaria, Germany, and the Netherlands host one trial each.
The investigational treatments represent different therapeutic approaches. Two trials focus on NTLA-2001, a cutting-edge gene-editing therapy using CRISPR/Cas9 technology, with one trial studying initial dosing and safety while the other provides long-term follow-up monitoring. Another trial examines eplontersen, an antisense oligonucleotide therapy, focusing on long-term safety and effectiveness. The fourth trial compares two RNA interference medications: vutrisiran and patisiran, both designed to reduce abnormal protein production.
Most trials have specific requirements for disease severity, typically requiring a Neuropathy Impairment Score between 5 and 130 and a Polyneuropathy Disability score of 3b or less. This suggests the studies are targeting patients with moderate disease progression who may benefit most from intervention. The trials generally exclude patients with other serious health conditions, those unable to comply with study procedures, and pregnant or breastfeeding women.
The availability of multiple treatment approaches in clinical development offers hope for patients with this challenging condition, with options ranging from traditional drug therapies to innovative gene-editing techniques.
This guide is here to help you understand the condition. It does not replace a conversation with your doctor, who knows your situation best.
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