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

Launched by ASTRAZENECA · May 13, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a condition called Hereditary Transthyretin Amyloidosis (ATTR) in patients who have Carpal Tunnel Syndrome (CTS) in Russia. The trial aims to understand how common ATTR-related nerve damage is among patients with CTS. Researchers will look back at medical records of patients who had surgery for CTS and also gather new information from patients diagnosed with CTS between January 2021 and December 2024.

To participate, individuals must be at least 18 years old, have a confirmed diagnosis of CTS affecting both wrists, and show certain signs that may suggest ATTR, such as family history of nerve problems or other specific health issues. Participants will need to give written consent for additional tests, including genetic testing. This study is currently recruiting participants, and it does not involve any new treatments or interventions, just collecting information to help improve understanding of this condition.

Gender

ALL

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.