Rett Syndrome
What Changes
Breathing while awake becomes irregular, with breath holds and hyperventilation, heart rate and breathing lose their usual coupling, and sleep is often poor.
Candidate Research Measures
Evidence
Rare Disease Research
Measure What Families See Every Day
Parents and caregivers see the breath holds, the restless nights, and the good days long before a clinic visit can. Hexoskin turns those moments into objective data, recorded at home with one garment, so foundations, investigators, and sponsors can move from what families describe to evidence a trial can use.
Hexoskin Medical System (HMS): FDA 510(k) K243981 for recording, displaying, and storing 3-lead ECG, heart rate, respiratory rate, and activity in adults in non-critical settings. Pediatric programs use Hexoskin research garments under the study protocol.
Why Continuous Physiology Matters in Rare Disease
In a rare disease, every participant counts and every visit is hard to arrange. Breathing, heart rhythm, sleep, and movement change at home and at night, between appointments. Hexoskin, a Montreal company, records them with textile sensors in a garment: ECG, breathing from the chest and abdomen by respiratory inductance plethysmography, and movement, on one clock, day and night. A small cohort then yields weeks of objective data instead of a few clinic snapshots. Foundations use it to build natural history, investigators to test candidate measures, and sponsors to prepare trials. The Hexoskin Medical System is FDA-cleared for adults, pediatric programs use Hexoskin research garments, and Hexoskin technology is cited in 325+ scientific publications.
Find Your Disease by What It Changes
Rare diseases rarely share a gene, but many share a physiology. Choose the body system your disease affects: it sets what to record, for how long, and at what time of day.
Candidate Research MeasureA research measure to evaluate in the program, never an endpoint.
01
Breathing Control
When the brainstem or its genes misfire, breathing becomes irregular, with breath holds, hyperventilation, or hypoventilation that clinic visits rarely capture.
Discuss This Indication
Pitt-Hopkins Syndrome
What Changes
Episodes of hyperventilation followed by apnea, and breath holding, occur while awake.
Candidate Research Measures
CCHS and ROHHAD
What Changes
Breathing is inadequate, especially during sleep, heart rate variability changes, and sinus pauses can occur.
Candidate Research Measures
Evidence
Familial Dysautonomia
What Changes
The chemoreflex fails, breathing is disordered during sleep, and sudden death can occur during sleep.
Candidate Research Measures
MECP2 Duplication Syndrome
What Changes
Recurrent respiratory infections, epilepsy, and low muscle tone are common.
Candidate Research Measures
02
Neuromuscular and Respiratory Decline
Weakening respiratory muscles show first at night and lying down. Continuous breathing and activity data follow that decline at home.
Amyotrophic Lateral Sclerosis (ALS)
What Changes
Respiratory muscles weaken, breathing declines at night with hypoventilation, and daily activity falls.
Candidate Research Measures
Duchenne and Becker Muscular Dystrophy
What Changes
Cardiomyopathy develops, breathing weakens during REM sleep, and activity changes as walking ability is lost.
Candidate Research Measures
Evidence
Myotonic Dystrophy Type 1
What Changes
Cardiac conduction disease, a risk of sudden death, hypoventilation, and daytime sleepiness are common.
Candidate Research Measures
Late-Onset Pompe Disease
What Changes
Diaphragm weakness leads to sleep-disordered breathing during REM sleep and to hypoventilation at night.
Candidate Research Measures
Spinal Muscular Atrophy (SMA)
What Changes
Sleep-disordered breathing and hypoventilation at night are common.
Candidate Research Measures
03
Cardiac Involvement
Cardiomyopathy and conduction disease drive risk in several neuromuscular and metabolic disorders. Long ECG recordings show rhythm and conduction trends between visits.
Also involved: Duchenne and Becker Muscular Dystrophy, Myotonic Dystrophy Type 1.
Friedreich Ataxia
What Changes
Cardiomyopathy and arrhythmia accompany progressive ataxia.
Candidate Research Measures
Evidence
Batten Disease
What Changes
Heart rate slows, repolarization changes appear on the ECG, and sleep is disrupted.
Candidate Research Measures
04
Autonomic Failure
Orthostatic intolerance, stridor, and sleep-disordered breathing mark autonomic failure. Heart rate response and night breathing describe it in daily life.
Also involved: Familial Dysautonomia.
Multiple System Atrophy
What Changes
Orthostatic hypotension, stridor, and sleep-disordered breathing are common, and sudden death can occur during sleep.
Candidate Research Measures
05
Seizures and SUDEP Risk
Developmental and epileptic encephalopathies combine seizures at night with cardiorespiratory changes. Movement, heart rate, and breathing are recorded together, on one clock.
Dravet Syndrome
What Changes
Convulsive seizures at night, reduced heart rate variability, and QT dispersion are reported, with a risk of sudden unexpected death in epilepsy (SUDEP).
Candidate Research Measures
Evidence
CDKL5 Deficiency Disorder
What Changes
Seizures, disrupted sleep, and irregular breathing are common.
Candidate Research Measures
Evidence
Lennox-Gastaut Syndrome
What Changes
Tonic seizures at night and drop attacks are common, and many people with the syndrome are adults.
Candidate Research Measures
Evidence
SCN8A Developmental and Epileptic Encephalopathy
What Changes
Seizures come with altered autonomic tone and arrhythmia, and with a risk of SUDEP.
Candidate Research Measures
SCN2A Developmental and Epileptic Encephalopathy
What Changes
Seizures and sleep disruption are common.
Candidate Research Measures
STXBP1 Developmental and Epileptic Encephalopathy
What Changes
Seizures occur with a movement disorder.
Candidate Research Measures
GRIN Disorders
What Changes
Seizures, sleep disruption, and movement disorders are common.
Candidate Research Measures
Tuberous Sclerosis Complex
What Changes
Epilepsy and sleep disorders are common.
Candidate Research Measures
06
Sleep, Behavior, and Movement
Sleep disruption, hyperactivity, and apnea are among the heaviest burdens for families and among the hardest to measure objectively.
Angelman Syndrome
What Changes
Sleep is severely disrupted, with hyperactivity and an unsteady gait.
Candidate Research Measures
Prader-Willi Syndrome
What Changes
Obstructive and central apnea, hypoventilation, daytime sleepiness, and obesity are common.
Candidate Research Measures
FOXG1 Syndrome
What Changes
Sleep problems and movement disorders are common.
Candidate Research Measures
Phelan-McDermid Syndrome
What Changes
Sleep problems and developmental regression are reported.
Candidate Research Measures
Fragile X Syndrome
What Changes
Signs of hyperarousal, such as a shorter interbeat interval and lower respiratory sinus arrhythmia, are reported alongside sleep problems.
Candidate Research Measures
Huntington Disease
What Changes
Sleep becomes fragmented, circadian rhythm changes, and chorea affects movement.
Candidate Research Measures
How Sponsors Use Continuous Physiology
Rare disease programs run on small cohorts, long timelines, and outcomes that are hard to see in a clinic. Continuous recording gives each participant a larger voice in the data, without adding visits.
Natural History and Progression
Describe how breathing, rhythm, sleep, and activity change over months, at home, before a trial defines what to measure.
Endpoint and Biomarker Research
Test candidate digital measures against reference methods and clinical scales, in the intended population, with a defined context of use.
Home and Hybrid Recording
Record between site visits with a garment families can put on, so travel and site burden do not limit data.
Safety Observations
Collect ECG and breathing alongside investigational treatments, for review by the study team after each recording.
Early-Phase Activity Signals
Look for exploratory physiological signals in dose-finding and proof-of-concept cohorts.
Extensions and Long-Term Follow-Up
Keep measuring for years with the same method, after the main trial ends.
Post-Approval Evidence and Registries
Add objective home measures to registries and real-world studies.
Data Science and AI
Build and validate models on traceable raw signals, with documented processing and signal quality.
For Patient Foundations and Research Networks
Foundations often fund the studies that make a trial possible: natural history, registries, and outcome measures that reflect daily life. Hexoskin was used in a randomized, placebo-controlled trial in Rett syndrome with the Rett Syndrome Research Trust (Campbell et al., 2025). We bring the same approach to your community: objective home measures beside what families report, a routine children and caregivers can follow, and the evidence package sponsors ask for before they commit.
What a Program Gets
HMS
Hexoskin Medical System
FDA 510(k) K243981 for recording, displaying, and storing 3-lead ECG, heart rate, respiratory rate, and activity in adults in non-critical settings, and configurable for research measures.
Explore the HMSHexoskin
Hexoskin Research Garments
ECG at 256 Hz, breathing from the chest and abdomen at 128 Hz, and acceleration at 64 Hz, about 42,000 data points per minute. Breathing is measured directly, not estimated from ECG or PPG, and sleep staging is validated against polysomnography. Junior sizes support pediatric research protocols.
Explore HexoskinHexoskin OneAppHexoskin OneViewHexoskin OneAPI
Software and Data Access
Hexoskin OneApp for participants and their families to sync recordings at home, Hexoskin OneView for session review, and Hexoskin OneAPI to connect recordings to study data systems and decentralized trial platforms.
Explore the SoftwareStudy Services
Study Services
Protocol feasibility, participant and caregiver instructions, site and home logistics, staff training, and multisite coordination.
Explore Study ServicesData and AI
Data and AI Services
Signal processing, signal quality, custom algorithms, and biomarker development work on the raw signals.
Explore AI and AnalysisData Security
Secure Data Handling
Encrypted transfer, secure hosting with daily backups, and access configured for each site, user, and study role.
Explore the SoftwareHow We Work
Every program starts with a conversation about the disease and the research question, not the device.
First Conversation
Thirty minutes on the program, the population, and what matters to measure.
Working Session
Clinical, biomarker, and data teams review candidate measures, reference methods, and data flow.
Protocol Feasibility
Wear schedule, sites, participant and caregiver burden, and data transfer, checked against the draft protocol.
Agreements and Vendor Qualification
A confidentiality agreement, then the security and quality documents your vendor process needs.
Scope and Quote
Equipment, platform, services, and the analysis plan, scoped to the program’s question and quoted by phase.
Study Delivery
Equipment and logistics, site and participant support, data review, and reporting.
Evidence
Hexoskin technology is cited in 325+ scientific publications. The studies below concern rare diseases. The full list is on the Scientific Publications page.
Campbell, K., Neul, J. L., Lieberman, D. N., Berry‑Kravis, E., Benke, T. A., Fu, C., Percy, A., Suter, B., Morris, D., Carpenter, R. L., Marsh, E. D., & von Hehn, J. (2025). A randomized, placebo‑controlled, cross‑over trial of ketamine in Rett syndrome. Journal of Neurodevelopmental Disorders, 17, Article 4. https://doi.org/10.1186/s11689-025-09591-y
Ismail, I., Rand, C., Krishnamurthi, N., & Weese-Mayer, D. E. (2025). Heart rate variability measurement through a smart wearable device in congenital central hypoventilation syndrome (CCHS): Influence of PHOX2B genotype. American Journal of Respiratory and Critical Care Medicine, 211(Supplement 1), A4429. https://doi.org/10.1164/ajrccm.2025.211.Abstracts.A4429
Gharbi, O., Lamrani, Y., St-Jean, J., Jahani, A., Toffa, D. H., Tran, T. P. Y., Robert, M., Nguyen, D. K., & Bou Assi, E. (2024). Detection of focal to bilateral tonic-clonic seizures using a connected shirt. Epilepsia, 65(8), 2280–2294. https://doi.org/10.1111/epi.18021
Gagliano, L., Ding, T. Y., Toffa, D. H., Beauregard, L., Robert, M., Lesage, F., Sawan, M., Nguyen, D. K., & Bou Assi, E. (2023). Decrease in wearable-based nocturnal sleep efficiency precedes epileptic seizures. Frontiers in Neurology, 13, 1089094. https://doi.org/10.3389/fneur.2022.1089094
Peers, D., Eales, L., Jones, K., Toth, A., Acharya, H., & Richman–Eisenstat, J. (2021). Singing and Dancing With Neuromuscular Conditions: A Mixed-Methods Study. Adapted Physical Activity Quarterly. https://doi.org/10.1123/apaq.2020-0133
Average Hexoskin respiratory rate remained stable across 15 weeks in the two consistently monitored participants, with no difference between choir and dance sessions. Spirometry was stable in two participants and improved in one, while quality-of-life improvements were reported for two participants. The very small, incomplete outcome samples make these feasibility findings preliminary.
Turn What Families See Into Evidence
Tell us the indication, the population, and the decision ahead. A Hexoskin specialist replies within two business days.