Natural history in XLHED
Research type
Research Study
Full title
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
IRAS ID
156150
Contact name
Ramsey Johnson
Contact email
Sponsor organisation
Edimer Pharmaceuticals Inc.
Clinicaltrials.gov Identifier
Duration of Study in the UK
4 years, 10 months, 16 days
Research summary
XLHED = X-linked Hypohidrotic Ectodermal Dysplasia is a life threatening, rare genetic disease caused by an alteration in the ectodysplasin A gene, inherited on the X-chromosome; diagnosed on the basis of fine, sparse hair (hypotrichosis), few and often pointed teeth (hypodontia) and diminished or absent sweat function (hypohidrosis).
Males with their single X-chromosome are fully affected by XLHED, while females inheriting one normal and one altered X-chromosome are variably affected.In the first years of life, XLHED-affected individuals are at risk for severe medical complications, most often associated with their inability to sweat, leading to hyperthermia, and their reduced mucus secretion predisposing them to respiratory infections.
The primary goal of the study is to understand the disease better and to improve the care of patients with XLHED.
The proposed natural history study will enrol 100 male and 50 female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies.
Subjects will have their initial and age 5 evaluations at a clinical study centre. Annual visits will be conducted through a telephone interview.
Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 years. Genotype-phenotype correlations in XLHED, based on well-documented health records and prospective assessments on genetically-confirmed individuals, may now provide new and clinically-predictive information for the benefit of patients, families, health care providers and clinical investigators designing trials for therapeutic interventions.
(Note:
Genotype: an organism's full hereditary information
Phenotype: an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties
Genotype-phenotype correlations: The goal of such comparisons is to determine whether specific mutations cause respective combinations of symptoms.REC name
Wales REC 3
REC reference
15/WA/0049
Date of REC Opinion
16 Apr 2015
REC opinion
Further Information Favourable Opinion