Clinical trial NCT02099552: Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
Official title: Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: X-Linked Hypohidrotic Ectodermal Dysplasia
Keywords: X-Linked hypohidrotic ectodermal dysplasia
XLHED
Hypohidrotic ectodermal dysplasia
HED
Christ-Siemens-Touraine syndrome
Lead sponsor: Edimer Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2014-03-31
Enrollment: 150
Sex: ALL
Maximum age (years): 36
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Those with the condition of XLHED up to age 36 months

Brief summary: The proposed natural history study will enroll male and 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. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs.

Detailed description: Important to the development and regulatory approval of therapies for XLHED will be the collection of data on the clinical history and prospective health of those affected by XLHED. The proposed natural history study will enroll male and 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. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs. 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.

Eligibility criteria: Inclusion Criteria:

Subjects must meet all of the following criteria to be enrolled in this study:

1. Confirmed genetic diagnosis of XLHED
2. Written informed consent of both parents (if reasonably available)

Exclusion Criteria:

Subjects who meet any of the following criteria cannot be enrolled in this study:

1. Medically-significant complications or congenital anomalies outside of those considered to be associated with the diagnosis or status of XLHED
2. Having received an investigational study drug prior to enrollment. For subjects less than 6 months of age, the mother cannot have taken an investigational drug during her pregnancy.
3. Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists
4. Presence of pacemakers

Primary outcomes:
measure: To assess clinical course of untreated XLHED individuals
timeFrame: Up to 5 years of life
measure: To assess the phenotype of untreated XLHED individuals
timeFrame: Up to 5 years of life
Secondary outcomes:
measure: To assess changes in endpoint assessments over time (growth and development)
timeFrame: Baseline and yearly up through 5 years of age
measure: To assess changes in endpoint assessments over time (Mortality/Hospitalizations/Infections/Fevers/Heat Intolerance)
timeFrame: Baseline and yearly up through 5 years of age
measure: To assess changes in endpoint assessments over time (sweat rate)
timeFrame: Baseline and yearly through 5 years of age
measure: To assess changes in endpoint assessments over time (Dentition)
timeFrame: Baseline and yearly through 5 years of age
measure: To assess changes in endpoint assessments over time (dry eye)
timeFrame: Baseline and yearly through 5 years of age
measure: To assess changes in endpoint assessments over time (skin, hair and nail health)
timeFrame: Baseline through 5 years of age
measure: To assess changes in endpoint assessments over time (respiratory health)
timeFrame: Baseline and yearly through 5 years of age
measure: To assess changes in endpoint assessments over time (craniofacial development)
timeFrame: Baseline and yearly through 5 years of age
measure: To assess genotype-phenotype correlation in XLHED affected individuals
timeFrame: Baseline through 5 years of age
Other outcomes:
Locations:
city: San Francisco
country: United States
facility: University of California, San Francisco
state: California
city: Washington, D.C.
country: United States
facility: Children's National Medical Center
state: District of Columbia
city: Saint Louis
country: United States
facility: Washington University School of Medicine
state: Missouri
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Erlangen
country: Germany
facility: University Hospital Erlangen
state: Bavaria
city: Milan
country: Italy
facility: Azienda Ospedaliera-Polo Universitario "Luigi Sacco"
city: Cardiff
country: United Kingdom
facility: University Hospital of Wales
Study officials:
affiliation: Edimer Pharmaceuticals
name: Ramsey Johnson, MSM
role: STUDY_DIRECTOR
References: