The Inherited Neuropathies Consortium will conduct a clinical trial of a tool that researchers developed to assess the severity of children’s Charcot-Marie-Tooth Disease.
Scientists say the assessment tool used in adults — the Charcot-Marie-Tooth neuropathy score, or CMTNS — is a reliable way of determining the severity of their disease. It is a collective assessment of patients’ views on their disease’s signs and symptoms, and their scores on neurophysiological tests.
The problem with using it in youngsters is that a lot of children may be unable to provide relevant and accurate information on their status. This limitation led to a team developing a tool specifically for children.
Researchers said the tool, called CMTPedS, will be tested in the trial (NCT01203085) to see how well it can evaluate children’s condition. It assesses their ability to run, jump, balance, and do puzzles. It takes about 30 minutes to complete.
The Inherited Neuropathies Consortium will conduct the study in 10 Rare Diseases Clinical Research Network centers in the United States, the United Kingdom, Italy, and Australia. All of the centers offer specialized children’s neurology services.
Researchers hope to recruit up to 2,000 patients between the ages of 3 and 21 with CMT type 1, 2 or 4. The participants must also be enrolled in a natural history study of CMT (NCT01193075) that consortium researchers are conducting.
The scientists will assess the children’s disease severity with one of two instruments — either the CMTPedS one that they developed or the Brief Assessment of Motor Function (BAMF) scale — every six months for two or more years.
They will assess patients’ quality of life with the Children’s Quality of Life scale CHQ-PF50.
The study will exclude patients who had treatments that led to secondary peripheral nerve damage. Also excluded will be patients who have been diagnosed with CMT but have yet to develop symptoms.