Hereditary Transthyretin Amyloidosis Polyneuropathy in Patients With Carpal Tunnel Syndrome in Russia

NCT06414746 | Completed

• 1 other identifier: D8451R00001
• Study Type: observational
• Target: 720
• Locations: 1 country
• Sites: 13

Brief Summary

This is a multicenter observational study consisting of retrospective and prospective phases. The retrospective phase will entail secondary data collection from electronic or paper medical records of patients who underwent surgery for CTS to assess their probability of having ATTR PN.

Conditions

Hereditary Transthyretin Amyloidosis; Carpal Tunnel Syndrome; Polyneuropathy; Amyloidosis

Keywords

ATTR PN; CTS; PN; carpal tunnel syndrome; polyneuropathy; amyloidosis

Outcome Measures

Primary Outcomes (1)

• To define the prevalence of ATTR PN in patients diagnosed with CTS and having bilateral involvement in routine clinical practice in the Russian Federation.

  In order to achieve primary objective, the proportion of patients with confirmed diagnosis of ATTR PN (presence of TTR gene mutation according to the results of molecular genetic testing and clinical symptoms and/or signs of polyneuropathy) among those diagnosed with CTS and having bilateral involvement will be calculated.

  Up to 12 months

Secondary Outcomes (68)

• To assess general demographic characteristics of patients with ATTR PN in Russia - Mean age (years) at the onset of CTS symptoms

  up to 12 months

• To assess general demographic characteristics of patients with ATTR PN in Russia: Mean age (years) at the onset of polyneuropathy symptoms

  up to 12 months

• to assess general demographic characteristics of patients with ATTR PN in Russia: Proportion of patients with late (>50 years) diagnosis of ATTR PN

  up to 12 months

• to assess general demographic characteristics of patients with ATTR PN in Russia: Mean age (years) at the time of CTS surgery

  up to 12 months

• to assess general demographic and clinical characteristics of patients with ATTR PN in Russia - Number and proportion of patients with specific characteristics of the first and repeat CTS surgery

  up to 12 months

Eligibility Criteria

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

Study Population

This multicenter observational study will retrospectively include 1300 consecutive adult patients diagnosed with CTS and having bilateral involvement in Russia from the earliest date of diagnosis to a later one within the specified time period who are observed and monitored at 20 participating sites, including approximately \~800 patients with CTS and high suspicion of having ATTR PN who will be enrolled in the prospective phase.

You may qualify if:

• for the retrospective phase are:
• Patients with the established diagnosis of CTS.
• Bilateral involvement of carpal tunnel established between the 1st January 2021 and the 31st December 2024 (both patients who underwent CTS surgical intervention and without it are enrolled).
• Age ≥ 18 years at the time of CTS diagnosis.
• Provided written informed consent for the prospective phase of the study (including molecular genetic testing).
• Presence of ≥1 of the following features (red flags):
• a. CIDP or polyneuropathy of unknown etiology in the family history; b. Spinal canal stenosis of the lumbar region; c. Autonomic dysfunction, defined by the presence of ≥1 of the following symptoms - i. Gastrointestinal complaints (constipation, chronic diarrhea, or both); ii. Erectile dysfunction; iii. Orthostatic hypotension; d. Gait disorders; e. Sweating disorders, anhidrosis. f. Paresthesia and burning of the skin of the distal extremities g. Distal symmetrical paresis h. Hypotrophy and hypotension of limb muscles, areflexia i. Biceps tendon rupture j. Aortic valve stenosis k. Diagnosis of HFpEF
• Absence of previously established ATTR PN diagnosis (ICD-10 code Е85.1, "Neuropathic hereditary familial amyloidosis").

You may not qualify if:

• Participation in any interventional trial within the period since identification of bilateral involvement of carpal tunnel until the end of current study.
• Previously performed TTR genetic testing;
• Verified B12 deficiency;
• History of alcohol abuse according to the patient's medical record.

Sponsors & Collaborators

• AstraZeneca: lead

Study Sites (13)

Research Site

Arkhangelsk, Russia

Location

Research Site

Barnaul, Russia

Location

Research Site

Chelyabinsk, Russia

Location

Research Site

Irkutsk, Russia

Location

Research Site

Kazan', Russia

Location

Research Site

Krasnodar, Russia

Location

Research Site

Moscow, Russia

Location

Research Site

Nizhny Novgorod, Russia

Location

Research Site

Rostov-on-Don, Russia

Location

Research Site

Saint Petersburg, Russia

Location

Research Site

Samara, Russia

Location

Research Site

Ufa, Russia

Location

Research Site

Yekaterinburg, Russia

Location

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related; Carpal Tunnel Syndrome; Polyneuropathies; Amyloidosis

Condition Hierarchy (Ancestors)

Median Neuropathy; Mononeuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Nervous System Diseases; Nerve Compression Syndromes; Cumulative Trauma Disorders; Sprains and Strains; Wounds and Injuries; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 16, 2024
• First Posted: May 16, 2024
• Study Start: December 29, 2023
• Primary Completion: March 28, 2025
• Study Completion: March 28, 2025
• Last Updated: August 7, 2025

Record last verified: 2025-07

Locations

RU (13)