Validation of a Questionnaire for Quality of Life Assessment in Patients With Transthyretin Amyloidosis.

NCT07080268 | Active Not Recruiting

• 1 other identifier: HGNPE
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 1

Brief Summary

Prospective study of development and validation of a questionnaire on quality of life in patients with Hereditary Amyloidosis The questionnaire development process will include 4 medical specialists experts in Transthyretin Amyloidosis (2 neurologists, 1 cardiologist, 1 physician clinical/hepathologist), 1 psychologist; 1 social worker; and 3 patients (with confirmed Hereditary amyloidosis) members of ALAPA. (Local PAG) Population and sample:

Conditions

Amyloidosis in Transthyretin (TTR); Hereditary Amyloidosis, Transthyretin-Related

Outcome Measures

Primary Outcomes (1)

• To develop and validate a structured and self-administered quality of life questionnaire in patients with hereditary amyloidosis

  To develop and validate a structured and self-administered questionnaire specific to covering physical, emotional and social aspects, to assess the impact of hereditary transthyretin amyloidosis on the quality of life of patients residing in Argentina.

  6 months

Study Arms (1)

Symptomatic patients with hereditary amyloidosis

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

Patients with confirmed ATTR (genetic test), older than 18 years in stage I, II and III of the PND (polyneuropathy disability) scale

You may qualify if:

• patients with confirmed ATTR (genetic test), older than 18 years old in stage I, II and III of the PND scale (polyneuropathy disability: I Sensory neuropathy ; II Motor symptoms, but with preserved ambulation; IIIa Requires 1 cane to ambulate; IIIb requires two canes/walker).

You may not qualify if:

• patients who participated in the validation process of the questionnaire: patients who participated in the questionnaire construction process or adjustments to the questionnaire.

Sponsors & Collaborators

• Hospital General de Niños Pedro de Elizalde: lead

Study Sites (1)

HGNPE

Buenos Aires, Buenos Aires, 1752, Argentina

Location

Related Publications (2)

• Conceicao I, Coelho T, Rapezzi C, Parman Y, Obici L, Galan L, Rousseau A. Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression. Amyloid. 2019 Sep;26(3):103-111. doi: 10.1080/13506129.2019.1627312. Epub 2019 Jul 24.

  PMID: 31339362 BACKGROUND

• Aimo A, Rapezzi C, Perfetto F, Cappelli F, Palladini G, Obici L, Merlini G, Di Bella G, Serenelli M, Zampieri M, Milani P, Licordari R, Teresi L, Ribarich N, Castiglione V, Quattrone F, De Rosis S, Vergaro G, Panichella G, Emdin M, Passino C. Quality of life assessment in amyloid transthyretin (ATTR) amyloidosis. Eur J Clin Invest. 2021 Nov;51(11):e13598. doi: 10.1111/eci.13598. Epub 2021 May 22.

  PMID: 33982288 BACKGROUND

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PhD

Study Record Dates

• First Submitted: July 15, 2025
• First Posted: July 23, 2025
• Study Start: June 20, 2025
• Primary Completion: September 1, 2025
• Study Completion: December 30, 2025
• Last Updated: July 23, 2025

Record last verified: 2025-07

Locations

AR (1)