A National Retrospective Population Based Cohort Study of the Natural History of Ataxia Telangiectasia

NCT04991701 | Unknown

• 1 other identifier: 16069
• Study Type: observational
• Target: 178
• Locations: 1 country
• Sites: 2

Brief Summary

This is a retrospective observational study of natural-history of ataxia-telangiectasia. Understanding the natural history and its variability is not only vital to planning effective patient-centred services, and counselling patients and their families, but will also inform the design of future clinical research, particularly clinical trials.

Conditions

Ataxia Telangiectasia

Keywords

Ataxia; Telangiectasia; Epidemiology

Outcome Measures

Primary Outcomes (2)

• Age at diagnosis

  Age (in months) at which a formal diagnosis of A-T was given

  through study completion, an average of 1 year

• Age of death

  Age of death of patient with diagnosis of A-T

  through study completion, an average of 1 year

Secondary Outcomes (2)

• Age at onset of ataxia

  through study completion, an average of 1 year

• Age at wheelchair dependence

  through study completion, an average of 1 year

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The UK Department of Health funds the national multidisciplinary clinic for children with A-T in Nottingham, with follow-up of adults at the Royal Papworth Hospital, Cambridgeshire. These clinics cover the whole NHS service in the UK and is the tertiary referral clinic or all cases in the country.

You may qualify if:

• All patients, with a clinical diagnosis of A-T who have attended the UK's National Ataxia-Telangiectasia clinic in Nottingham or the national adult A-T service in Papworth, of any age

You may not qualify if:

• Patients aged 16 and over who specifically inform us that they do not want their clinical data included in the study.
• Patients aged under 16 whose parents / guardian inform us that they do not want their child's clinical data included in the study.

Sponsors & Collaborators

• University of Nottingham: lead
• Nottingham University Hospitals NHS Trust: collaborator
• Royal Papworth Hospital: collaborator

Study Sites (2)

Royal Papworth Hospital NHS Foundation Trust

Cambridge, Cambridgeshire, United Kingdom

Location

Nottingham University Hospitals NHS Trust

Nottingham, Nottinghamshire, NG9 2UH, United Kingdom

Location

MeSH Terms

Conditions

Ataxia Telangiectasia; Ataxia; Telangiectasis

Condition Hierarchy (Ancestors)

Spinocerebellar Ataxias; Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurocutaneous Syndromes; Dyskinesias; Neurologic Manifestations; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Primary Immunodeficiency Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Shalini Ojha, PhD

  University of Nottingham

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 30, 2021
• First Posted: August 5, 2021
• Study Start: September 14, 2018
• Primary Completion: August 4, 2021
• Study Completion: December 31, 2022
• Last Updated: October 12, 2021

Record last verified: 2021-10

Data Sharing

• IPD Sharing: Will not share

Locations

GB (2)