跳至主要内容
临床试验/ACTRN12605000128695
ACTRN12605000128695招募中未知

Improved characterisation of the clinical phenotype of Hereditary Motor Sensory Neuropathy of neuronal type with onset of symptoms in early childhood, especially with respect to disease progression with age and the incidence of such complications as foot deformity, contractures, scoliosis and respiratory involvement - an observational study.

The Children's Hospital at Westmead0 个研究点目标入组 20 人开始时间: 2005年8月11日最近更新:
适应症

试验速览

阶段
未知
状态
招募中
发起方
入组人数
20

研究概览

简要总结

暂无简介。

研究设计

研究类型
Observational

入排标准

年龄范围
ot stated 至 ot stated(—)
性别
All

入选标准

  • Subjects will have a diagnosis of HMSN of neuronal type with onset in early childhood, based upon their clinical findings and family history, neurophysiological assessments and, where applicable, pathological testing (nerve and muscle biopsies).

排除标准

  • No exclusion criteria

研究者

发起方
The Children's Hospital at Westmead

相似试验

已完成
不适用
The identification of phenotypes in patients with severe Chronic Obstructive Pulmonary DiseaseChronic Obstructive Pulmonary Disease (COPD)10038716emphysema
NL-OMON40211niversitair Medisch Centrum Groningen1,000
进行中(未招募)
1 期
Definition of the clinicla manifestation variability, response to treatment and natural history in Pearson and Kearns-Sayre syndromePearson and Kearns-Sayre syndrome.MedDRA version: 20.1Level: PTClassification code 10058799Term: Mitochondrial encephalomyopathySystem Organ Class: 10010331 - Congenital, familial and genetic disordersMedDRA version: 20.1Level: PTClassification code 10051403Term: Mitochondrial DNA deletionSystem Organ Class: 10010331 - Congenital, familial and genetic disordersMedDRA version: 20.0Level: LLTClassification code 10074070Term: Mitochondrial encephalopathySystem Organ Class: 10010331 - Congenital, familial and genetic disorders
EUCTR2019-003028-19-ITIRCCS, OSPEDALE PEDIATRICO BAMBINO GESÙ DI ROMA27
尚未招募
Unknown
Clinical, biochemical and liver tissue changes in Hepatitis-B Gray zone patients and determine eligibility for treatment thereof.
CTRI/2023/12/060743I.P.G.M.R, Kolkata
尚未招募
不适用
A study on the clinical characteristics including severity of pulmonary fibrosis by COVID-19Certain infectious and parasitic diseases
KCT0006312Asan Medical Center100
已完成
不适用
Analysis of clinical characteristics of patients with macadamia nut allergy and identification of the macadamia nut allergensMacadamia nut allergy
JPRN-UMIN000024563Tokyo Metropolitan Children's Medical Center7