A Multicenter Observational Retrospective-prospective Study of Prevalence, Clinical Characteristics of Hereditary Transthyretin Amyloidosis Polyneuropathy in Russian Patients Undergoing Surgery for CTS in Real Clinical Practice

Plain English Summary

Hereditary Transthyretin Amyloidosis Polyneuropathy in Patients With Carpal Tunnel Syndrome in Russia is a Not Applicable clinical trial sponsored by AstraZeneca studying Hereditary Transthyretin Amyloidosis, Carpal Tunnel Syndrome, Polyneuropathy, Amyloidosis. This study looks for a rare genetic nerve condition called Hereditary Transthyretin Amyloidosis Polyneuropathy (ATTR-PN) in people who have had surgery for Carpal Tunnel Syndrome (CTS) in Russia. It is for adults in Russia who have been diagnosed with CTS and had surgery for it. Participation involves reviewing past medical records and potentially providing consent for future genetic testing. Currently, there are no specific alternative studies for this exact population and condition in Russia. The trial aims to enroll 721 participants.

Official 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.

Who Can Participate

Here is what you need to know about eligibility for this trial. You can join if you are 18 or older, have a confirmed CTS diagnosis, and had surgery for it between January 2021 and December 2024. You must also have at least one of several specific symptoms or health issues that could indicate ATTR-PN, such as nerve problems in the family, digestive issues, heart problems, or unexplained weight loss. You cannot join if you have already been diagnosed with ATTR-PN, are currently in another interventional trial, have a history of alcohol abuse, or have a confirmed B12 deficiency. This trial is studying Hereditary Transthyretin Amyloidosis, Carpal Tunnel Syndrome, Polyneuropathy, Amyloidosis, so participants generally need a confirmed diagnosis.

What They're Measuring

The main goal is to determine the percentage of patients with carpal tunnel syndrome who also have this specific genetic nerve condition, helping doctors understand how often it occurs in this group. The specific primary outcome measures are: To define the prevalence of ATTR PN in patients diagnosed with CTS and having bilateral involvement in routine clinical practice in the Russian Federation. (Up to 12 months). These endpoints are how researchers determine whether the treatment is effective and will form the basis of any future regulatory submissions.

About This Phase

This study does not have a traditional clinical phase designation. It may be an observational study that follows patients without intervening in their care, an expanded access or compassionate use program, or other non-interventional research. These studies contribute valuable data about disease progression, treatment patterns, and patient outcomes.

Why This Trial Matters

This trial is important because it aims to find out how common a rare, often undiagnosed nerve disease is among patients treated for carpal tunnel syndrome in Russia, potentially leading to earlier di This research targets Hereditary Transthyretin Amyloidosis, Carpal Tunnel Syndrome, Polyneuropathy, Amyloidosis, where improved treatment options are needed.

Investor Insight

This observational study by AstraZeneca could signal interest in understanding the prevalence of ATTR-PN in a specific patient population, potentially informing future diagnostic or therapeutic strate The large enrollment target of 721 participants suggests significant investment in this program.

Is This Trial Right for Me?

Ask your doctor if you have symptoms like numbness, tingling, or weakness in your hands and feet, or if you have a family history of nerve problems. Be prepared to discuss your medical history, including any digestive issues, heart conditions, or unexplained weight loss. If you consent, you may be asked to provide a blood sample for genetic testing in the future. The trial is being conducted at 13 sites. Always discuss clinical trial participation with your healthcare provider before making any decisions. This information is for educational purposes only and is not medical advice.

AI-generated analysis for educational purposes only. This is not medical advice. Discuss clinical trial participation with your doctor. Data sourced from ClinicalTrials.gov.

Study Design

• Study Type: OBSERVATIONAL
• Enrollment: 721 participants

Primary Outcomes

• To define the prevalence of ATTR PN in patients diagnosed with CTS and having bilateral involvement in routine clinical practice in the Russian Federation. (Up to 12 months)

Secondary Outcomes

• 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)

Full Eligibility Criteria

Inclusion Criteria:

for the retrospective phase are:

1. Patients with the established diagnosis of CTS.
2. 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).
3. Age ≥ 18 years at the time of CTS diagnosis.
4. Provided written informed consent for the prospective phase of the study (including molecular genetic testing).
5. 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

   l. Unexplained weight loss ≥5 kilos at any timepoint since the onset of symptoms of CTS; m. Left ventricular hypertrophy (based on electro- or echocardiographic criteria documented in the patient's medical record); n. Heart rhythm disorders; o. Renal abnormalities, defined by ≥1 of the following features - i. Documented diagnosis of chronic kidney disease (CKD); ii. Decreased estimated glomerular filtration rate (eGFR \<60 mL/min/1.73m2); iii. Increased serum creatinine (SCr) above reference range of the local laboratory; iv. Albuminuria (≥30 mg/g of creatinine or ≥30 mg/24h); v. Proteinuria (according to urinalysis results); p. Ophthalmology disorder defined by ≥1 of the following features - i. Vitreous body inclusions (opacification); ii. Glaucoma; iii. Pupillary disorders; iv. Vitrectomy
6. Absence of previously established ATTR PN diagnosis (ICD-10 code Е85.1, "Neuropathic hereditary familial amyloidosis").

Exclusion Criteria:

1. Participation in any interventional trial within the period since identification of bilateral involvement of carpal tunnel until the end of current study.

   The following criteria apply for non-inclusion of patients into the prospective part of the study:
2. Previously performed TTR genetic testing;
3. Verified B12 deficiency;
4. History of alcohol abuse according to the patient's medical record.

Trial Locations

• Research Site, Arkhangelsk, Russia
• Research Site, Barnaul, Russia
• Research Site, Chelyabinsk, Russia
• Research Site, Irkutsk, Russia
• Research Site, Kazan', Russia
• Research Site, Krasnodar, Russia
• Research Site, Moscow, Russia
• Research Site, Nizhny Novgorod, Russia
• Research Site, Rostov-on-Don, Russia
• Research Site, Saint Petersburg, Russia
• ...and 3 more locations

Frequently Asked Questions

Related Conditions

• Hereditary Transthyretin Amyloidosis
• Carpal Tunnel Syndrome
• Polyneuropathy
• Amyloidosis
• Nerve Damage
• Peripheral Neuropathy
• Genetic Disorders
• Autonomic Dysfunction
• Heart Failure
• Kidney Disease

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