hATTR Polyneuropathy in Russia

NCT06365593 | Completed

• 1 other identifier: D8450R00005
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 3

Brief Summary

A multicenter observational retrosPective Registry of patIents with transthyretin aMyloid polynEuropathy (hATTR-PN) and chRonic idiopathic axonal polyneuropathy (CIAP) in the population of the Russian Federation (PRIMER) There are no comprehensive epidemiological data on patients with hereditary ATTR-PN (hATTR-PN) and CIAP in the Russian Federation. Therefore, there is a need to conduct a large-scale observational study in the Russian population to obtain information on clinical, electrophysiological and demographic characteristics of patients with hATTR-PN and CIAP. Obtaining the study data will help to identify the patients with axonal polyneuropathy, who deserve TTR gene sequencing, and therefore to allow early treatment and potentially modify disease progression in patients.

Conditions

Hereditary Transthyretin Amyloidosis

Keywords

hATTR; CIAP; hATTR-PN; ATTR-PN; ATTRv; ATTR; polyneuropathy; transthyretin amyloid polyneuropathy; chronic idiopathic axonal polyneuropathy; hereditary transthyretin amyloidosis

Outcome Measures

Primary Outcomes (29)

• In order to describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Mean age at the hATTR-PN or CIAP diagnosis information will be collected

  up to 5 months

• In order to describe the baseline demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Proportion of women and men will be collected

  up to 5 months

• In order to describe the baseline demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Proportion of patients with each race and ethnicity will be collected

  up to 5 months

• to describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIA, information on Proportion of patients from each federal district of the Russian Federation will be collected

  up to 5 months

• in order to describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, tha following Anthropometric characteristics will be collected:

  Mean height (in m and cm), body weight (in kg), BMI (kg/m2)

  up to 5 months

• In order to describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients with underweight will be collected

  BMI \<18,5 kg/m2

  up to 5 months

• in order to describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Proportion of patients with negative lifestyle factors will be collected:

  1. Proportion of patients with a history of smoking; 2. Proportion of patients with a history of alcohol abuse

  up to 5 months

• in order to describe the baseline demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Proportion of patients with positive family history in close relatives will be collected

  up to 5 months

• to describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP, information on Mean (or median) time from the first symptoms of neuropathy to the diagnosis of PN will be collected

  up to 5 months

• to describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP, Proportion of patients with different firstly suspected etiology of PN will be calculated

  1. Diabetic; 2. Alcoholic; 3. Toxic (toxic agents other than alcohol, e.g. drugs or chemotherapy); 4. Other Hereditary; 5. Deficiency (due to vitamin B12, thiamine or pyridoxine deficiency); 6. Immunological (due to rheumatological, paraneoplastic or celiac disease); 7. Haematological (paraproteinemic syndromes); 8. Infective; 9. Idiopathic; 10. Other;

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP, information on Mean (or median) time from first PN manifestation/diagnosis to the hATTR-PN or CIAP diagnosis will be collected

  up to 5 months

• To describe the baseline electrophysiological and clinical characteristics of patients, Proportion of patients with chronic sensory or sensorimotor polyneuropathy and progressive chronic polyneuropathy among patients with CIAP will be calculated

  up to 5 months

• To describe the baseline clinical characteristics of patients with hATTR-PN and CIAP, Proportion of patients with each result of TTR gene testing will be calculated

  (positive, negative, not performed); the proportion of patients with each identified mutation in TTR gene in case of positive result

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients with each clinical manifestation will be calculated:

  1. Sensory symptoms; 2. Motor symptoms; 3. CTS (proportion of patients with any CTS in total, as well as proportion of patients with uni- and bilateral CTS); 4. Biceps tendon rupture; 5. Autonomic symptoms; 6. Spinal channel stenosis of the lumbar region; 7. GI symptoms; 8. Ocular manifestations; 9. Cardiac manifestations; 10. Renal manifestations; 11. CNS involvement.

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients with each PND score will be calculated

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients with each score by each parameter of neurological examination will be calculated

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Mean point by MRS will be calculated

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Mean point by INCAT scale (total score, arm disability, leg disability) will be collected

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Mean left ventricular ejection fraction (LVEF) will be collected

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information Mean wall thickness of the left ventricular (LV) will be collected

  up to 5 months

• To describe the baseline electrophysiological characteristics of patients with hATTR-PN and CIAP, information Mean variables based on the results of electrophysiological investigation, including the following (on both extremities) will be collected

  Compound muscular action potential (CMAP) (mV) of the median, ulnar, tibial and peroneal nerves; (b) (Distal motor latency) DML (ms) of the median, ulnar, tibial and peroneal nerves; (c) (Motor nerve conduction velocity) MNCV (m/s) of the median, ulnar, tibial and peroneal nerves; (d) Sensory action potential (SAP) (μV) of the median, ulnar, peroneal superficial and sural nerves; (e) Sensory nerve conduction velocity (SNCV) (m/s) of the median, ulnar, peroneal superficial and sural nerves

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients with diagnosis of HFpEF will be calculated

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Mean NT-proBNP level will be collected

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information Mean estimated glomerular filtration rate (eGFR) will be collected

  based on CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration) formula

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Mean urine albumin-to-creatinine ratio (UACR) in a spot urine sample will be collected

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients with a positive paraprotein blood test result will be calculated

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, information on Mean blood pressure (BP) (systolic and diastolic) and Mean heart rate (HR)

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients with each concomitant disease will be calculated

  up to 5 months

• To describe the baseline electrophysiological, clinical and demographic characteristics of patients with hATTR-PN and CIAP in the Russian Federation, Proportion of patients underwent surgery for CTS to the moment of diagnosis will be calculated

  up to 5 months

Secondary Outcomes (1)

• To arrange a score to select patients with axonal neuropathy who deserve screening for TTR mutation.

  Up to 5 months

Other Outcomes (25)

• To assess the changes in the clinical and electrophysiological characteristics of patients with hATTR-PN and CIAP in the Russian Federation during retrospective follow-up period Mean changes in BMI at visits 2, 3 will be compared to baseline

  during retrospective follow-up period

• To assess the changes in the clinical and electrophysiological characteristics of patients with hATTR-PN and CIAP during retrospective follow-up period Proportion of patients with newly diagnosed clinical manifestations will be calculated

  during retrospective follow-up period

• To assess the changes in the clinical and electrophysiological characteristics of patients with hATTR-PN and CIAP during retrospective follow-up period, Proportion of patients with different newly diagnosed clinical manifestations will be calculated

  during retrospective follow-up period

Study Arms (2)

Patients with hATTR-PN

50 adult patients with hATTR-PN

Patients with CIAP

50 adult patients with CIAP

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This non-interventional multicenter observational study will include 50 adult patients with hATTR-PN and 50 adult patients with CIAP in 8 clinical sites in the Russian Federation. The diagnosis should be established in patients' source medical documentation.

You may qualify if:

• Patients with hATTR-PN or CIAP ;
• The diagnosis of hATTR-PN or CIAP was established between the 1st January 2017 and the 1st March 2024;
• Age ≥ 18 years at the time of hATTR-PN or CIAP diagnosis.

You may not qualify if:

• The participation in any clinical trial with investigational product from the moment of diagnosis of ATTR PN or CIAP until the end of retrospective follow-up period.

Sponsors & Collaborators

• AstraZeneca: lead

Study Sites (3)

Research Site

Kazan', Russia

Location

Research Site

Moscow, Russia

Location

Research Site

Saint Petersburg, 194354, Russia

Location

Related Links

• D8450R00005 Clinical Study Report (CSR) Synopsis\_Redacted

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related; Polyneuropathies; Amyloid Neuropathies, Familial

Condition Hierarchy (Ancestors)

Peripheral Nervous System Diseases; Neuromuscular Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Amyloid Neuropathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amyloidosis, Familial; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Amyloidosis; Proteostasis Deficiencies

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 1, 2024
• First Posted: April 15, 2024
• Study Start: December 29, 2023
• Primary Completion: May 30, 2024
• Study Completion: May 30, 2024
• Last Updated: May 25, 2025

Record last verified: 2025-05

Locations

RU (3)