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Amyloidosis, Familial clinical trials

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NCT ID: NCT06360289 Recruiting - Clinical trials for Hereditary Amyloidosis, Transthyretin-Related

Observational Study of Neurofilament Light Chain (NfL) as a Biomarker in Asymptomatic Carriers of the Transthyretin (TTR) Variants and Patients With Hereditary Transthyretin-mediated (hATTR) Amyloidosis With Polyneuropathy

Start date: April 25, 2024
Phase:
Study type: Observational

This is a single-center observational study evaluating the potential value of NfL as a biomarker for diagnosis, detection of disease onset, monitoring of disease progression, and treatment response in asymptomatic carriers of TTR variants and symptomatic hATTR amyloidosis patients with polyneuropathy.

NCT ID: NCT05974644 Not yet recruiting - Clinical trials for Amyloidosis, Hereditary

Southeastern ATTR Amyloidosis Consortium: SEATTRAC Family Registry

Start date: September 1, 2024
Phase:
Study type: Observational [Patient Registry]

The study design is a prospective registry including asymptomatic and symptomatic patients who carry a pathogenic TTR mutation. The study will enroll patients who meet the inclusion criteria and none of the exclusion criteria until 1000 patients are enrolled, at which point in time the study investigators will evaluate whether further patient accrual is meaningful.

NCT ID: NCT05940922 Not yet recruiting - Clinical trials for Guillain-Barre Syndrome

RWE-based Treatment Patterns and Outcomes in CIDP

Start date: August 17, 2023
Phase:
Study type: Observational

To describe the demographics, clinical characteristics, treatment patterns and clinical outcomes of chronic inflammatory demyelinating polyneuropathy (CIDP), Guillain-Barre Syndrome (GBS), and heredofamilial amyloidosis (hATTR) adult patients at a single U.K. centre.

NCT ID: NCT05879874 Recruiting - Clinical trials for Amyloidosis, Hereditary

Prospective Evaluation of NfL as a Biomarker in ATTRv

NfLInATTRv
Start date: September 1, 2023
Phase:
Study type: Observational

ATTR amyloidosis is a rare and progressively disabling disease caused by the deposition of misfolded TTR protein in multiple tissues including the nerves, heart, and gastrointestinal tract. Polyneuropathy (PN) and cardiomyopathy (CM) are the two most frequent phenotypes and many patients presented a mixed picture of PN and CM. There are different methods to search for the existence and extent of PN and disability caused by ATTR amyloidosis (e.g. mNIS+7, Norfol, QoL-DN), these methods may not be sensitive enough to search for the onset of disease in patients carrying the pathogenic TTR variants or progression of PN in patients undergoing treatment. Also, some of the available methods can be difficult and time-consuming to perform. For this reason, there is a need for sensitive biomarkers that can aid in the investigation and follow-up of PN in patients with hATTR amyloidosis. NfL, a well-known biomarker of nerve damage due to both central and peripheral nervous system disorders, was recently evaluated as a potential biomarker of nerve damage in patients with hATTR amyloidosis. The results of this study can help understand the potential value of NfL in patients with PN of hATTR amyloidosis establishing i changes levels of this biomarker in response to different pathology-specific treatment options correlation between NfL levels and different ratings clinics. The primary objective of the study is to establish the potential of NfL as a biomarker of severity of polyneuropathy, progression and response to treatment in patients with symptomatic hATTR amyloidosis.

NCT ID: NCT05873868 Recruiting - Clinical trials for Transthyretin Amyloidosis

Myocardial Effects in Patients With ATTRv With Polyneuropathy Treated With Patisiran or Vutrisiran

MyocardON-TTR
Start date: April 12, 2024
Phase:
Study type: Observational

ATTRv amyloidosis is a systemic disease with two clinical forms, neurological and cardiological, which are sometimes combined (so-called mixed forms). Patisiran and vutrisiran have shown protective effects on the progression of neurological damage. The effects of Patisiran or vutrisiran on the heart remain incompletely understood. The aim of this study is to better understand the morphological and functional cardiac consequences in ATTRv patients with stage 1 or 2 polyneuropathy with a mixed form treated with Patisiran or vutrisiran

NCT ID: NCT05489549 Recruiting - Amyloidosis Cardiac Clinical Trials

Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers

Start date: November 21, 2022
Phase:
Study type: Observational

Approximately 1.5 million of the 44 million Blacks in the United States are carriers of the valine-to-isoleucine substitution at position 122 (V122I) in the transthyretin (TTR) protein. Virtually exclusive to Blacks, this is the most common cause of hereditary cardiac amyloidosis (hATTR-CA) worldwide. hATTR-CA leads to worsening heart failure (HF) and premature death. Fortunately, new therapies that stabilize TTR improve morbidity and mortality in hATTR-CA, especially when prescribed early in the disease. However, hATTR-CA is often diagnosed at an advanced stage and conventional diagnostic tools lack diagnostic specificity to detect early disease. The overall objectives of this study are to determine the presence of subclinical hATTR-CA and to identify biomarkers that indicate amyloid progression in V122I TTR carriers. The central hypothesis of this proposal is that hATTR-CA has a long latency period that will be detected through subclinical amyloidosis imaging and biomarker phenotyping. The central hypothesis will be tested by pursuing 2 specific aims: Aim 1) determine the association of V122I TTR carrier status with CMRI evidence of amyloid infiltration; Sub-aim 1) determine the association of V122I TTR carrier status with cardiac reserve; Aim 2) determine the association between amyloid-specific biomarkers and V122I TTR carrier status; and Sub-aim 2) determine the association of amyloid-specific biomarkers with imaging-based parameters and evaluate their diagnostic utility for identifying subclinical hATTR-CA. In Aim 1, CMRI will be used to compare metrics associated with cardiac amyloid infiltration between a cohort of V122I TTR carriers without HF formed by cascade genetic testing and age-, sex-, and race-matched non-carrier controls. For Sub-Aim 1, a sub-sample of carriers and non-carrier controls enrolled in Aim 1 will undergo novel exercise CMRI to measure and compare cardiac systolic and diastolic reserve. Aim 2 involves measuring and comparing amyloid-specific biomarkers in V122I TTR carriers without HF with samples matched non-carriers (both from Aim 1) and individuals with symptomatic V122I hATTR-CA from our clinical sites. These biomarkers detect and quantify different processes of TTR amyloidogenesis and include circulating TTR, retinol binding protein 4, TTR kinetic stability, and misfolded TTR oligomers. Sub-aim 2 will establish the role of these biomarkers to detect imaging evidence of subclinical hATTR-CA disease.

NCT ID: NCT05311488 Active, not recruiting - Clinical trials for Hereditary Amyloidosis, Transthyretin-Related

Early Detection of Neuropathy in ATTRv

EDONA
Start date: February 14, 2022
Phase:
Study type: Observational

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.

NCT ID: NCT05196594 Recruiting - Clinical trials for Microbial Colonization

Analysis of the Instestinal Microbiome of Patients With Transthyretin Amyloidosis

AMIAT
Start date: May 1, 2021
Phase:
Study type: Observational

Amyloidosis is a serious systemic disease. Cardiac involvement has a great impact on prognosis and can occur in its three main forms: acquired monoclonal light chain, hereditary transthyretinal and senile form. The physiopathogenesis basically results from the deposition of an abnormal protein (amyloid) with toxic properties to the myocyte. The scope of this study will be a hereditary transthyretinal amyloidosis (hATTR). It is known that amyloidotic cardiomyopathy due to transthyretin deposit is an underdiagnosed cause of heart failure in adults, being an important differential diagnosis of diseases that manifest with increased myocardial thickness, such as hypertrophic cardiomyopathy or myocardial hypertrophy that accompanies the different degrees of aortic valve stenosis. The human gut microbiota is immensely diverse. It is estimated at around 100 trillion microorganisms, including bacteria, fungi and viruses. The microbiota of each individual is unique and determined by genetic factors such as age, type of delivery, use of antibiotics and diet. Recent data point to the hypothesis that the resilience of the intestinal microbiota plays a role in the process of disease development and health restoration.

NCT ID: NCT04695340 Withdrawn - Clinical trials for Familial Amyloidosis

Effect of Psyllium (Plantago Ovata) on Digestive Disorders in Familial Amyloidosis

Psyllium
Start date: November 2023
Phase: N/A
Study type: Interventional

Familial amyloidosis is a rare disease that mainly affects the nerves and heart, but also more rarely the eyes and kidneys. This disease is due to a mutation in the gene encoding the synthesis of transthyretin, resulting in a modification of the translated protein. This abnormal protein and its derivatives are deposited in the form of a toxic "amyloid" substance in tissues and organs, altering their functions, particularly in the gastrointestinal tract. From a gastrointestinal perspective, different treatments can be proposed in the absence of specific recommendations for familial amyloidosis. The hygienic and dietary measures consist of avoiding tobacco, alcohol and carbonated drinks, limiting fatty meals rich in poorly digestible fibers, and splitting meals. If this fails, metoclopramide and domperidone are suggested. As a second-line erythromycin, can be used with caution because of cardiac risks and drug interactions. Polyethylene glycol-based osmotic laxatives can be used to treat constipation. Alternating diarrhea and constipation can be treated with ispaghul-based laxatives, aiming at transit regulation. Finally, refractory diarrhea can be treated with the administration of loperamide. If this fails, treatment with a somatostatin analogue may be offered. However, all these treatments can present significant side effects, therefore natural alternatives are often sought. Psyllium in particular regulates transit by normalizing stool consistency: it is effective against digestive disorders such as constipation, but it is also effective in the event of diarrhea. It allows the formation of a viscous gel by the hydrophilicity of polysaccharides macromolecules, increasing the fecal bowl which stimulates peristalsis and facilitates defecation. The WHO has recognized that Psyllium is superior to wheat bran in the treatment of irritable bowel syndrome. The main objective of the study is to assess the effect of daily Psyllium administration on digestive quality of life in familial amyloidosis patients who suffer from digestive disorders.

NCT ID: NCT03862807 Completed - Clinical trials for Transthyretin Amyloidosis

Patisiran in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) Disease Progression Post-Liver Transplant

Start date: March 27, 2019
Phase: Phase 3
Study type: Interventional

The purpose of this study is to evaluate the efficacy, safety and pharmacokinetics of patisiran in participants with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) with disease progression after liver transplant.