Quality of Life and Disease-related Symptoms in Individuals With Systemic Mastocytosis

NCT ID: NCT06065007

Last Updated: 2025-04-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-03-25

Study Completion Date

2028-11-15

Brief Summary

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Systemic Mastocytosis is a rare and complex disease caused by accumulation of mast cells. The skin, bones, gastrointestinal tract, bone marrow and liver are the organs most often affected. Symptoms can vary greatly between patients. The study aims to describe the Swedish cohort's self-rated quality of life and levels of disease-related symptoms.

Detailed Description

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Systemic Mastocytosis (SM) is a rare and complex disease caused by accumulation of mast cells leading to release of mediator substances (e.g., cytokines, prostaglandins, histamine and tryptase). The skin, bones, gastrointestinal tract, bone marrow and liver are the organs most often affected. Symptoms vary between patients and can include e.g., allergic reactions with anaphylaxis, rashes, osteoporoses, cognitive difficulties, fatigue, depression, anxiety, nausea, vomiting, stomach pains and diarrhea. In this cross-sectional observational study, the aim is to include the Swedish cohort of persons diagnosed with SM to gather a wide range of information on self-rated health-related quality of life, gastrointestinal symptoms, pain, anxiety, depression and self-care.

Conditions

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Mastocytosis, Systemic

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Swedish cohort of persons with Systemic Mastocytosis

We aim to include all individuals with a diagnosis of SM in Sweden, by identification via either one the two centers of excellence of mastocytosis or by a regional representative for the mastocytosis group in Sweden.

No intervention

Intervention Type OTHER

This is a cross-sectional observational study, no intervention will be implemented or exposure studied. Data for outcomes of interest will be collected via questionnaires

Interventions

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No intervention

This is a cross-sectional observational study, no intervention will be implemented or exposure studied. Data for outcomes of interest will be collected via questionnaires

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Swedish-speaking individuals aged 18 years or older and diagnosed with indolent systemic mastocytosis (ISM) or advanced systemic mastocytosis (AdvSM), verified by a bone marrow biopsy

Exclusion Criteria

* An assessment by the treating physician that the individual has a cognitive impairment making participation impossible
* The patient has undergone an allogeneic stem cell transplant
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Karolinska Institutet

OTHER

Sponsor Role collaborator

Uppsala University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Mariann Hedström, PhD

Role: PRINCIPAL_INVESTIGATOR

Uppsala University, Department of Public Health and Caring Sciences

Locations

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Karolinska Institutet

Stockholm, , Sweden

Site Status

Uppsala University

Uppsala, , Sweden

Site Status

Countries

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Sweden

References

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van Anrooij B, Kluin-Nelemans JC, Safy M, Flokstra-de Blok BM, Oude Elberink JN. Patient-reported disease-specific quality-of-life and symptom severity in systemic mastocytosis. Allergy. 2016 Nov;71(11):1585-1593. doi: 10.1111/all.12920. Epub 2016 Jun 23.

Reference Type BACKGROUND
PMID: 27089859 (View on PubMed)

Brockow K, Jofer C, Behrendt H, Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy. 2008 Feb;63(2):226-32. doi: 10.1111/j.1398-9995.2007.01569.x.

Reference Type BACKGROUND
PMID: 18186813 (View on PubMed)

Fuchs D, Kilbertus A, Kofler K, von Bubnoff N, Shoumariyeh K, Zanotti R, Bonadonna P, Scaffidi L, Doubek M, Elberink HO, Span LFR, Hermine O, Elena C, Benvenuti P, Yavuz AS, Brockow K, Zink A, Aberer E, Gorska A, Romantowski J, Hadzijusufovic E, Fortina AB, Caroppo F, Perkins C, Illerhaus A, Panse J, Vucinic V, Jawhar M, Sabato V, Triggiani M, Parente R, Bergstrom A, Breynaert C, Gotlib J, Reiter A, Hartmann K, Niedoszytko M, Arock M, Kluin-Nelemans HC, Sperr WR, Greul R, Valent P. Scoring the Risk of Having Systemic Mastocytosis in Adult Patients with Mastocytosis in the Skin. J Allergy Clin Immunol Pract. 2021 Apr;9(4):1705-1712.e4. doi: 10.1016/j.jaip.2020.12.022. Epub 2020 Dec 23.

Reference Type BACKGROUND
PMID: 33346151 (View on PubMed)

Gulen T, Hagglund H, Dahlen B, Nilsson G. Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease. J Intern Med. 2016 Mar;279(3):211-28. doi: 10.1111/joim.12410. Epub 2015 Sep 8.

Reference Type BACKGROUND
PMID: 26347286 (View on PubMed)

Hermans MAW, Rietveld MJA, van Laar JAM, Dalm VASH, Verburg M, Pasmans SGMA, Gerth van Wijk R, van Hagen PM, van Daele PLA. Systemic mastocytosis: A cohort study on clinical characteristics of 136 patients in a large tertiary centre. Eur J Intern Med. 2016 May;30:25-30. doi: 10.1016/j.ejim.2016.01.005. Epub 2016 Jan 23.

Reference Type BACKGROUND
PMID: 26809706 (View on PubMed)

Jennings S, Russell N, Jennings B, Slee V, Sterling L, Castells M, Valent P, Akin C. The Mastocytosis Society survey on mast cell disorders: patient experiences and perceptions. J Allergy Clin Immunol Pract. 2014 Jan-Feb;2(1):70-6. doi: 10.1016/j.jaip.2013.09.004. Epub 2013 Dec 3.

Reference Type BACKGROUND
PMID: 24565772 (View on PubMed)

Jennings SV, Finnerty CC, Hobart JS, Martin-Martinez M, Sinclair KA, Slee VM, Agopian J, Akin C, Alvarez-Twose I, Bonadonna P, Bowman AS, Brockow K, Bumbea H, de Haro C, Fok JS, Hartmann K, Hegmann N, Hermine O, Kalisiak M, Katelaris CH, Kurz J, Marcis P, Mayne D, Mendoza D, Moussy A, Mudretzkyj G, Vaia NN, Niedoszytko M, Elberink HO, Orfao A, Radia DH, Rosenmeier S, Ribada E, Schinhofen W, Schwaab J, Siebenhaar F, Triggiani M, Tripodo G, Velazquez R, Wielink Y, Wimazal F, Yigit T, Zubrinich C, Valent P. Mast Cell Diseases in Practice and Research: Issues and Perspectives Raised by Patients and Their Recommendations to the Scientific Community and Beyond. J Allergy Clin Immunol Pract. 2022 Aug;10(8):2039-2051. doi: 10.1016/j.jaip.2022.06.018. Epub 2022 Jun 28.

Reference Type BACKGROUND
PMID: 35777651 (View on PubMed)

Levedahl KH, Nilsson A, Ungerstedt J, Hedstrom M. Living with systemic mastocytosis: Balancing between vulnerability and resilience: A qualitative study. Eur J Oncol Nurs. 2022 Oct;60:102172. doi: 10.1016/j.ejon.2022.102172. Epub 2022 Jul 6.

Reference Type BACKGROUND
PMID: 35963124 (View on PubMed)

Pardanani A. Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management. Am J Hematol. 2021 Apr 1;96(4):508-525. doi: 10.1002/ajh.26118. Epub 2021 Feb 21.

Reference Type BACKGROUND
PMID: 33524167 (View on PubMed)

Pulfer S, Ziehfreund S, Gebhard J, Hindelang B, Biedermann T, Brockow K, Zink A. Health-Related Quality of Life and Influencing Factors in Adults with Nonadvanced Mastocytosis-A Cross-Sectional Study and Qualitative Approach. J Allergy Clin Immunol Pract. 2021 Aug;9(8):3166-3175.e2. doi: 10.1016/j.jaip.2021.04.059. Epub 2021 May 26.

Reference Type BACKGROUND
PMID: 33965596 (View on PubMed)

Siebenhaar F, von Tschirnhaus E, Hartmann K, Rabenhorst A, Staubach P, Peveling-Oberhag A, Wagner N, Martus P, Carter MC, Metcalfe DD, Church MK, Maurer M, Weller K. Development and validation of the mastocytosis quality of life questionnaire: MC-QoL. Allergy. 2016 Jun;71(6):869-77. doi: 10.1111/all.12842. Epub 2016 Feb 15.

Reference Type BACKGROUND
PMID: 26797792 (View on PubMed)

Spolak-Bobryk N, Niedoszytko M, Jassem E, Chelminska M, Lange M, Majkowicz M, Nedoszytko B, Borchet J. The role of the clinical and psychological symptoms of mastocytosis in the patient's quality of life. Postepy Dermatol Alergol. 2022 Aug;39(4):688-696. doi: 10.5114/ada.2021.108433. Epub 2021 Sep 20.

Reference Type BACKGROUND
PMID: 36090735 (View on PubMed)

Ungerstedt J, Ljung C, Klimkowska M, Gulen T. Clinical Outcomes of Adults with Systemic Mastocytosis: A 15-Year Multidisciplinary Experience. Cancers (Basel). 2022 Aug 16;14(16):3942. doi: 10.3390/cancers14163942.

Reference Type BACKGROUND
PMID: 36010937 (View on PubMed)

Other Identifiers

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SMQoL230918

Identifier Type: -

Identifier Source: org_study_id

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