Sleep Patterns in Patients Affected by Lymphangioleiomiomatosis

Lymphangioleiomyomatosis (LAM) is a rare and progressive pulmonary disease of unknown etiology that almost exclusively affects women. It is characterised by cystic radiological lung pattern and by the possible presence of angiomyolipomas in other sites or organs. Functionally LAM is associated with airway obstruction or restriction and progressive hypoxemia up to chronic respiratory failure.

There are no studies, so far, which have investigated whether during sleep these patients show changes in the sleep profile and gas exchange and if these changes are related to disease severity. Aim of the study, prospective and pilot, is to evaluate whether the physiological modification of respiratory mechanics during sleep is associated with polysomnographic alterations in LAM.

Study Overview

• Status: Recruiting
• Conditions: Sleep Apnea Syndromes; Sleep Disorder; Lymphangioleiomyomatosis; Hypopnea Syndrome
• Intervention / Treatment: Diagnostic test: LAM patients underwent PSG

Detailed Description

Lymphangioleiomiomatosis (LAM) is a rare progressive disease that affects primarily lungs with a cystic radiologic pattern and may be associated with angiomiolipomas in the kidneys or in other sites and an increased frequency of meningioma. Patients with sporadic LAM are usually female (incidence around 1/400.000 adult females). LAM associated with tuberous sclerosis may affect male, female and children.

LAM patients are functionally characterized by obstructive or restrictive syndrome that leads patients to hypoxemia and chronic respiratory failure, so that quality of Life (QoL) of these patients is affected by dyspnea. Hypoxemia contributes to the development of secondary pulmonary hypertension (PH) during progression of LAM history, worsening the damage.

The modifications in the neural control of ventilation during sleep in combination with anatomical disposition drive to sleep-related changes in upper airway resistance and physiologic desaturations. In healthy subjects these features are almost completely compensated but, in LAM patients, may lead to airway obstruction and/or pathologic oxygen desaturation that could be managed. So far, none have investigated the changes in sleep architecture and related blood gas exchange in patients with LAM relating these changes with disease severity.

This pilot study investigate if the physiologic modifications of breathing during sleep lead to sleep disorders in LAM patients, measured through abnormalities in polysomnography (PSG) and ih sleep disorders in LAM are associated with respiratory functional abnormalities and disease severity.

• Study Type: Interventional
• Enrollment (Anticipated): 15
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Stefano Nava, MD-FERS; Phone Number: 00390512143253; Email: stefano.nava@aosp.bo.it
• Study Contact Backup: Name: Irene Prediletto, MD-PhD; Phone Number: 00390512143253; Email: irene.prediletto@aosp.bo.it

Study Locations

• Italy
  • Bologna, Italy, 40138
    • Recruiting
    • Azienda Ospedaliero-Universitaria di Bologna
    • Contact: Stefano Nava, MD; Phone Number: 00390512143253; Email: stefano.nava@aosp.bo.it
    • Contact: Phone Number: 00390512143253

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• confirmed diagnosis of LAM according to current guidelines
• sign of informed consent to participate

Exclusion Criteria:

• the presence of either acute or chronic respiratory failure
• the use of long-term oxygen therapy

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: PSG in LAM patients; Patients affected by LAM underwent whole-night PSG	Diagnostic test: LAM patients underwent PSG; Patients with confirmed diagnosis of LAM underwent a whole-night polysomnography. The presence of either acute or chronic respiratory failure or the use of long-term oxygen therapy are considered exclusion criteria

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
prevalence of sleep disorders in LAM	Aim of the project is to assess the presence of sleep disorders (oxygen destaruration during sleep and/or sleep apnea or hypopnea) in patients affected by LAM.	1 year
correlation between sleep-related disorders and LAM severity measured by spirometry	Another aim of the project is to stratify the presence of sleep-related disorders (oxygen desaturation during sleep, sleep apnea or hypopnea) according to the severity of LAM measured through functional impairment. By spirometry performed at the time of PSG the study population will be divided in: subjects with obstructive impairment; subjects with restrictive abnormality and subjects with no alterations.	1 year
correlation between sleep-related disorders and LAM severity measured by annual decline of forced-expiratory volume at the first second (FEV1)	Another aim of the project is to stratify the presence of sleep-related disorders (oxygen desaturation during sleep, sleep apnea or hypopnea) according to the severity of LAM measured by annual decline of forced-expiratory volume at the first second (FEV1), expressed in ml/year. Annual decline of FEV1 will be measured subtracting the FEV1 value (ml) at the time of PSG test to the FEV1 value (ml) at the time of diagnosis and then, dividing it by disease duration in years.	1 year
correlation between sleep-related disorders and LAM severity measured by arterial blood gas exchange	Another aim of the project is to stratify the presence of sleep-related disorders (oxygen desaturation during sleep, sleep apnea or hypopnea) according to the severity of LAM measured through arterial blood gas exchanges values: partial pressure of oxygen (PaO2 - mmHg), partial pressure of carbon dioxide (PaCO2 - mmHg), oxygen saturation (SatO2, %).	1 year
correlation between sleep-related disorders and clincal parameters	Moreover, another aim is to assess the distribution of sleep disorders (oxygen desaturation during sleep, sleep apnea or hypopnea) according to age, sex, body mass index (BMI), comorbidities in patients affected by LAM. BMI will be calculated using height (mt) and weight (Kg) at the time of PSG and expressed in Kg/m^2.	1 year

Collaborators and Investigators

• Sponsor: dr. Stefano Nava
• Investigators: Principal Investigator: Stefano Nava, MD-FERS, AOSP - Azienda Ospedaliero Universitaria Di Bologna

Study record dates

Study Major Dates

• Study Start (Actual): June 30, 2020
• Primary Completion (Anticipated): July 8, 2021
• Study Completion (Anticipated): November 1, 2021

Study Registration Dates

• First Submitted: June 30, 2020
• First Submitted That Met QC Criteria: October 5, 2020
• First Posted (Actual): October 8, 2020

Study Record Updates

• Last Update Posted (Actual): March 18, 2021
• Last Update Submitted That Met QC Criteria: March 17, 2021
• Last Verified: March 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Nervous System Diseases; Respiratory Tract Diseases; Immune System Diseases; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Apnea; Respiration Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Neurologic Manifestations; Disease; Lymphangiomyoma; Lymphatic Vessel Tumors; Perivascular Epithelioid Cell Neoplasms; Sleep Apnea Syndromes; Syndrome; Sleep Wake Disorders; Lymphangioleiomyomatosis
• Other Study ID Numbers: 270/2016/O/Oss/AOUB

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No