Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

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.

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