A Method Characterization Study to Evaluate Thermoregulatory Sweat Production in Healthy Volunteers and Patients With ROSAH Syndrome)

N/ANot Yet RecruitingNCT07814209

The Third Xiangya Hospital of Central South University30 enrolled

Overview

This study is designed to characterize a new quantitative method for measuring sweat production induced by controlled heat exposure. Approximately 20 healthy volunteers and up to 10 patients with ROSAH syndrome will be enrolled. Sweat production will be quantified using a gravimetric filter-paper technique during standardized 30-minute heat exposure in a temperature-controlled sauna chamber. Each participant will complete three repeated testing sessions. The study will also pilot a questionnaire to evaluate the self-reported impact and severity of hypohidrosis/anhidrosis.

This multicenter, controlled-environment, repeated-measures study is designed as a physiological challenge test. The study will be initiated in healthy volunteers to characterize the feasibility, reproducibility, and reference distribution of the sweat measurement method under controlled heat exposure. Upon confirmation of the method's suitability, the study will proceed to enroll participants with ROSAH syndrome. Each participant will complete three heat-exposure sessions in a sauna, separated by 1-3 days, with all sessions completed within a maximum of one week. The primary outcome is Total Gravimetric Sweat Production (TGSP). Safety evaluations will include monitoring of adverse events, vital signs, and body temperature.

Study Type

INTERVENTIONAL

Allocation

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

ROSAH Syndrome

Eligibility

Sex: ALLMin age: 12 YearsMax age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Male or female participants 12 to 65 years of age at screening. * Adolescent participants must be Tanner stage IV or V or have reached an equivalent level of sexual maturity. * For the healthy-volunteer cohort, the participant must be considered healthy based on medical history and investigator assessment. * For the ROSAH syndrome cohort, the participant must have a genetically and clinically confirmed diagnosis of ROSAH syndrome and must be considered clinically stable by the investigator. * Able and willing to complete three controlled sauna heat-exposure tests. * Able to remain seated in a temperature-controlled sauna chamber for up to 30 minutes. * Willing to wear only underwear during testing; female participants may wear a bra. * Willing to have hair at testing sites trimmed or shaved if necessary. * Able to drink 300 mL of water before each test. * Able and willing to comply with study requirements, instructions, and protocol restrictions and likely to complete the study as planned. * Able to provide written informed consent. * For minors, written informed consent must be provided by a parent or legal representative, and written assent must be provided by the participant. Exclusion Criteria: * Baseline body temperature greater than 37.5°C on the day of testing. * Fever, acute infection, or acute illness within 7 days before testing. * History of heat stroke, severe heat intolerance, heat-associated syncope, or severe dehydration. * Clinically significant cardiovascular disease, uncontrolled hypertension, cardiac arrhythmia, or unstable respiratory disease. * Severe anemia or unstable cytopenia, in the investigator's judgment. * Active skin disease, wound, dermatitis, or skin infection at a filter paper placement site. * Pregnant or breastfeeding. * Current use of medication that may substantially affect sweating or thermoregulation unless approved by the investigator, including anticholinergic agents, systemic beta blockers, diuretics, selected antihistamines, or medications that reduce heat tolerance. * Use of depilatory cream, waxing, an epilator, or another chemical or mechanical hair-removal method other than shaving from 7 days before the first sweat test through the final sweat test. * Laser, intense pulsed light, or other energy-based hair removal within 3 months before screening. * Unable to comply with clothing, privacy, or testing requirements. * Any other condition that, in the investigator's judgment, would create an unacceptable risk or interfere with interpretation of the study results.

Outcomes

Primary Outcomes

Total Gravimetric Sweat Production (TGSP)

TGSP is defined as the sum of sweat mass collected from all prespecified and evaluable anatomical sites during a standardized heat-exposure session. For each site, sweat mass is calculated as the post-exposure filter paper weight minus the pre-exposure filter paper weight. TGSP will be reported in milligrams and may also be standardized by filter paper area according to the statistical analysis plan.

Time frame: During each of three approximately 30-minute heat-exposure sessions, with sessions at least 1 day apart and all three sessions completed within 7 days.

Secondary Outcomes

Regional Gravimetric Sweat Production by Anatomical Site

Sweat mass at the chest, back, axilla, forehead, and forearm will be calculated separately as the post-exposure filter paper weight minus the pre-exposure filter paper weight. Results will be reported in milligrams and may also be standardized by filter paper area.

Time frame: During each of three approximately 30-minute heat-exposure sessions, with sessions at least 1 day apart and completed within 7 days.

Test-Retest Reliability of Total Gravimetric Sweat Production

Short-term test-retest reliability of TGSP across the three heat-exposure sessions will be assessed using the intraclass correlation coefficient and graphical repeated-measures assessments.

Time frame: Across the three heat-exposure sessions completed within 7 days.

Within-Participant Variability of Total Gravimetric Sweat Production

Within-participant variability in TGSP across the three sessions will be summarized using within-participant standard deviation and coefficient of variation.

Time frame: Across the three heat-exposure sessions completed within 7 days.

Test-Retest Reliability and Variability of Regional Sweat Production

Time frame: Across the three heat-exposure sessions completed within 7 days.

Total and Regional Sweat Production by Clinical Group, Sex, and Age Category

TGSP and regional sweat production will be summarized descriptively by clinical group (healthy volunteers and participants with ROSAH syndrome), sex, and age category (adolescents and adults). Comparisons are exploratory and are not powered for confirmatory hypothesis testing.

Time frame: During the three heat-exposure sessions completed within 7 days.

Sauna Chamber Temperature Stability

Sauna chamber temperature will be recorded continuously or at protocol-defined frequent intervals. Stability will be summarized using descriptive statistics and the extent of time within the protocol-defined operating range.

Time frame: Throughout each approximately 30-minute heat-exposure session during the three sessions completed within 7 days.

Sauna Chamber Relative Humidity Stability

Sauna chamber relative humidity will be recorded continuously or at protocol-defined frequent intervals and summarized descriptively to characterize environmental consistency across sessions.

Time frame: Throughout each approximately 30-minute heat-exposure session during the three sessions completed within 7 days.

Change in Body Temperature During Controlled Heat Exposure

Body temperature will be measured before sauna entry, at least every 5 minutes during exposure if not continuously monitored, at the end of exposure, and during recovery when clinically indicated. Change from the pre-exposure value and maximum observed temperature will be summarized.

Time frame: Before, during, immediately after, and during recovery from each of the three heat-exposure sessions completed within 7 days.

Heat-Exposure Sessions Terminated Early Due to Body Temperature of 38.0°C or Higher or Participant Intolerance

The number and percentage of planned heat-exposure sessions that are terminated early because body temperature reaches or exceeds 38.0°C, the participant requests discontinuation, or the investigator identifies clinically significant intolerance will be summarized.

Time frame: During the three heat-exposure sessions completed within 7 days.

Incidence, Type, and Severity of Adverse Events and Heat-Related Intolerance Events

Adverse events and procedure-related intolerance events will be collected and summarized by event type, severity, seriousness, and relationship to study procedures. Events of interest include heat intolerance, dizziness, presyncope or syncope, headache, nausea or vomiting, fatigue, palpitations, skin irritation, and clinically significant body-temperature elevation.

Time frame: From initiation of the first study procedure through the follow-up assessment, up to approximately 17 days per participant.

Anhidrosis/Hypohidrosis Impact Questionnaire Total Score

The questionnaire contains six scored items covering heat intolerance, frequency of overheating, activity limitation, use of cooling measures, perceived ability to sweat, and overheating-related symptoms. Each item is scored from 0 to 4; the total score ranges from 0 to 24, with higher scores indicating greater heat intolerance or impact of impaired sweating.

Time frame: Before the first heat-exposure session and 8 to 10 days after the final heat-exposure session.

Change in Anhidrosis/Hypohidrosis Impact Questionnaire Total Score

Change in questionnaire total score will be calculated as the follow-up total score minus the baseline total score. Item-level changes may also be summarized descriptively.

Time frame: From before the first heat-exposure session to 8 to 10 days after the final heat-exposure session.

Test-Retest Reliability of the Anhidrosis/Hypohidrosis Impact Questionnaire

Short-term stability and test-retest reliability of questionnaire total scores will be evaluated using paired descriptive summaries, correlations, intraclass correlation coefficients, and graphical assessments, as appropriate.

Time frame: Between the baseline assessment before the first heat-exposure session and the follow-up assessment 8 to 10 days after the final heat-exposure session.

A Method Characterization Study to Evaluate Thermoregulatory Sweat Production in Healthy Volunteers and Patients With ROSAH Syndrome)

Overview

Conditions

Interventions

Eligibility

Outcomes

Primary Outcomes

Secondary Outcomes