NCT02713880

Brief Summary

International, multicenter, observational, longitudinal study to identify biomarker/s for the development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood and number of correctly identified patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Geographic Reach
2 countries

2 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 13, 2016

Completed
2 months until next milestone

First Posted

Study publicly available on registry

March 21, 2016

Completed
2.4 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
1.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2019

Completed
Last Updated

February 10, 2023

Status Verified

February 1, 2023

Enrollment Period

1.3 years

First QC Date

January 13, 2016

Last Update Submit

February 8, 2023

Conditions

Transthyretin AmyloidosisTransthyretin-Related (ATTR) Familial Amyloid PolyneuropathyTransthyretin Amyloid Cardiopathy

Keywords

Amyloid NeuropathiesBiomarker

Outcome Measures

Primary Outcomes (1)

  • Development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood

    36 months

Secondary Outcomes (1)

  • Number of correctly identified patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy

    36 months

Study Arms (1)

Patients with Transthyretin-Related Familial

Patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy or high-grade suspicion for Transthyretin-Related Familial Amyloidotic Polyneuropathy

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy or high-grade suspicion for Transthyretin-Related Familial Amyloidotic Polyneuropathy

You may qualify if:

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both genders older than 2 months
  • The patient has a diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy or a high-grade suspicion for Transthyretin-Related Familial Amyloidotic Polyneuropathy
  • Positive family anamnesis for Transthyretin-Related Familial Amyloidotic -Polyneuropathy
  • Orthostatic dysregulation
  • Acroparaesthesia
  • Dysaesthesia and paraesthesia
  • Muscle paresis and atrophy

You may not qualify if:

  • No Informed consent from the parents before any study related procedures.
  • Patients of both genders younger than 2 months
  • No diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy or no valid criteria for profound suspicion of Transthyretin-Related Familial Amyloidotic Polyneuropathy

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Centogene GmbH

Rostock, 18055, Germany

Location

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Mumbai, 400705, India

Location

Biospecimen

Retention: SAMPLES WITH DNA

For the development of the new biomarkers using the technique of Mass-spectometry, maximal 7,5 blood will be taken from the patient via a dry blood spot filter card. To proof the correct diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing will be done. The analyses will be done at the Centogene GmbH Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-RelatedAmyloid Neuropathies, FamilialAmyloid Neuropathies

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesPeripheral Nervous System DiseasesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAmyloidosis, FamilialMetabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesAmyloidosisProteostasis Deficiencies

Study Officials

  • Arndt Rolfs, Prof.

    CENTOGENE GmbH Rostock

    PRINCIPAL INVESTIGATOR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 13, 2016

First Posted

March 21, 2016

Study Start

August 20, 2018

Primary Completion

December 1, 2019

Study Completion

December 1, 2019

Last Updated

February 10, 2023

Record last verified: 2023-02

Locations

IN(1)DE(1)