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NCT02611089 Clinical Trial

Muscle Connective Tissue in Limb Development and Disease

Radial Dysplasia Clinical Trial

Official title:
Muscle Connective Tissue in Limb Development and Disease

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT02611089
Other study ID # 14SG01
Secondary ID 15/LO/2085
Status Recruiting
Phase
First received
Last updated
Start date February 20, 2016
Est. completion date August 2036

Study information
Verified date March 2022
Source King's College London
Contact Malcolm Logan, BSc, PhD
Phone 02078486886
Email malcolm.logan@kcl.ac.uk
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

The objective of this work is to understand how the disruption of the muscle connective tissue contributes to the limb soft-tissue defects in radial dysplasia. In parallel, the researchers will investigate the role of muscle connective tissue in normal limb development.

Description:

The objective of this work is to understand the origins of the soft tissue defects in a disabling, disfiguring limb anomaly called radial dysplasia, and what mechanisms of normal limb development have been disrupted in these patients to produce their phenotype. The investigators aim to use this knowledge to improve their treatment. Currently, despite sophisticated surgical treatment, the limb malformation the child is born with typically recurs as they grow: it is thus an 'unsolved problem'. The investigators have previously shown, in an experimental mouse model of radial dysplasia, the underlying soft tissue problem is a change in the muscle connective tissue and its derivatives, causing abnormal soft-tissue patterning. The investigators wish to expand this work into the investigators' patient population by comparing samples of post-natal muscle connective tissue derivatives from radial dysplasia patients with control samples. The investigators will ask patients undergoing corrective hand surgery to let the investigators take small tissue samples during their planned operations. The investigators will also ask patients having other forms of hand surgery, such as surgery for hand injuries, to let the investigators take similar samples for comparison. In either case, their scar and peri-operative treatment will be unchanged. The investigators will examine the tissue samples in the investigators' laboratory to look for changes in tissue architecture, cellular composition, cell signalling, and how they behave when grown in culture. The investigators will also make attempts to derive cell lines from biopsy samples to use in further studies, exploring cellular phenotype and functional capacity. Simultaneously, the investigators will look at the long-term surgical outcomes and the range of genetic changes in the investigators' patient population. Eligible patients will be referred for consideration in the (separate) 100,000 genome project; this should further expand the investigators' knowledge of the genetic changes underlying limb anomalies. The ability to combine data on genotype, long-term phenotype and soft tissue changes will give a comprehensive overview of the condition. The investigators expect this to lead to a better understanding of patient subgroups, and to provide a rational basis for improved treatment approaches.

Recruitment information / eligibility
Status Recruiting
Enrollment 45
Est. completion date August 2036
Est. primary completion date February 1, 2026
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Cases Inclusion Criteria: - Patients with a clinical diagnosis of radial dysplasia, requiring reconstructive surgery - Either sex - Informed (parental) consent to participate Exclusion Criteria: - Patients with a clinical diagnosis of radial dysplasia, but not requiring reconstructive surgery - Patients with a diagnosis other than radial dysplasia - Patients with extensive previous scarring to their forearm and hand. - Patients with a significant pathological skin or soft tissue lesion at the donor site. Controls Inclusion Criteria: - Patients with an injury requiring reconstructive surgery - Either sex - Informed (parental) consent to participate Exclusion Criteria: - Patients with extensive previous scarring to their forearm and hand. - Patients with a significant pathological skin or soft tissue lesion at the donor site.

Study Design

Related Conditions & MeSH terms

Intervention

Procedure:
• Tissue biopsy
Sampling of tissue as described.

Locations
Country Name City State
United Kingdom Chelsea and Westminster Hospital NHS Foundation Trust London
United Kingdom Great Ormond Street Hospital for Children NHS Foundation Trust London
United Kingdom Royal Free Hospital London
United Kingdom Oxford University Hospitals Oxford Oxfordshire

Sponsors (4)
Lead Sponsor Collaborator
King's College London Chelsea and Westminster NHS Foundation Trust, Great Ormond Street Hospital for Children NHS Foundation Trust, Royal Free Hospital NHS Foundation Trust

Country where clinical trial is conducted

United Kingdom, 

Outcome
Type Measure Description Time frame Safety issue
Primary Characterisation of muscle connective tissue derivatives - structure The characterization of any structural difference in tissue organisation within muscle connective tissue derivatives, comparing normal control patients to patients with radial dysplasia. 3 years
Primary Characterisation of muscle connective tissue derivatives - function The characterization of any functional difference in gene expression within muscle connective tissue derivatives, comparing normal control patients to patients with radial dysplasia. 3 years
Secondary Identification of biomarker(s). The identification of a novel biomarker (or biomarkers) for human muscle connective tissue derivatives, which may potentially serve as a diagnostic or prognostic tool 3 years
Secondary Identification of muscle connective tissue progenitor-cell pool. The potential identification of a stem-cell-like or progenitor-cell pool for muscle connective tissue derivatives in mature soft tissue. 3 years

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