- ICH GCP
- Registr klinických studií v USA
- Klinická studie NCT07657507
Presentation of Young Adults With and Without Joint Hypermobility
Prospective Study of Symptoms in People With and Without Joint Hypermobility
People with multiple hypermobile joints are diagnosed with Generalized Joint Hypermobility (GJH) when asymptomatic, or Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD) when symptomatic (hEDS/HSD, or 'HSD' in this document).(Russek, 2019) GJH likely affects about 20% of the U.S. population, while HSD affects 0.5-3% of the US population. Although joint hypermobility is the most visible presentation of HSD, it is a systemic connective tissue disorder affecting multiple body systems. Due to frequent health concerns, HSD may contribute to more than 30% of patients in chronic pain, rheumatology, orthopedic and physical therapy clinics.(Simmonds, 2022) It is still unclear why some people have asymptomatic hypermobility and others develop complex chronic health issues. However, recent research suggests that the transition might be triggered by severe physiological stress, such as viral infection.(Griggs, 2025)
HSD is commonly associated with Postural Orthostatic Tachycardia Syndrome (POTS) and Mast Cell Activation Syndrome (MCAS), as well as gastrointestinal (GI) problems.(Wang, 2021; Ganesh, 2024) Recent research suggests that persistent inflammation due to MCAS or COVID may trigger HSD symptoms.(Ganesh, 2024) The correlation between POTS and HSD(Collins, 2025) may be due to the effects of HSD on the autonomic nervous system or to inflammation triggering both conditions. It is also unclear whether body awareness and coordination deficits seen in symptomatic HSD are due to the fundamental connective tissue disorder or due to pain and injuries in HSD. Therefore, we are interested in whether asymptomatic hypermobile individuals (GJH) also have balance and coordination deficits. The current study hopes to identify factors that correlate with a transition from asymptomatic GJH to symptomatic HSD by following a group of Health Science students forward in time. The study will collect baseline health information including relevant diagnoses, symptoms and function. Physical measurements will include standard clinical tests performed by physical therapists: joint hypermobility and instability, standing balance, neck movement control, and heart rate in response to standing from lying down. The study is likely to last for at least 10 years to follow participants over time.
Clarkson's Health Science students are an ideal population to recruit because they value clinical research and the Health Science programs need to keep in contact with them after graduation to fulfill accreditation requirements, making it easier to contact them for follow-up questionnaires. Furthermore, Health Science faculty understand the importance of maintaining confidentiality of personal health information.
Přehled studie
Postavení
Detailní popis
Most hyper mobility-related research is conducted by clinical researchers, who are generally limited to recruiting research subjects from patients who present to their clinics. There are few opportunities for longitudinal studies of asymptomatic or 'healthy' individuals to identify potential triggers prospectively and to compare to people who do not develop symptoms. A health care academic institution provides the ideal environment for a prospective study, somewhat like the 'Nurses Health Study'* that followed a population of nurses throughout their lives.
The study will collect initial data on:
- Current diagnoses related to HSD, MCAS, and POTS (questionnaire)
- Current symptoms associated with HSD, MCAS and POTS (questionnaire)
- Overall quality of life (questionnaire)
- Physical measures for diagnosing joint hypermobility and instability
- Physical screening for POTS
- Physical screening for body awareness, balance and coordination
Objectives and Hypotheses
- What is the prevalence of HSD, POTS and MCAS in a 'healthy' young adult population?
- How often are HSD, POTS and MCAS undiagnosed in a 'healthy' young adult population?
- Are there factors that trigger or precede the development of widespread symptoms in people who have GJH, causing them to develop HSD?
- What risk factors are associated with increased likelihood that an individual will develop POTS, MCAS, or HSD?
- Do balance or motor control in the neck differ in asymptomatic joint hypermobility compared to symptomatic hypermobility?
- If coordination impairments exist in asymptomatic people with hypermobility, does that predict development of HSD?
Questionnaires will be on secure Google Forms accessed through participants' phones or other electronic devices. Participants may pause and return to the questionnaires if they choose. We intend for the questionnaires to require no more than 30 minutes to complete; we may need to eliminate questions from the current list to achieve this.
Physical measurements will be performed only at the initial data collection. These measurements will be performed by licensed physical therapists, who may be assisted by physical therapy graduate students with adequate training to assist in selected data collection. Data collection will take place in Clarkson Hall. Measurements are likely to be performed at 'stations' by various assessors, but any participant who would like to be in a private room for any or all of the assessment may request that. Physical measurements are likely to take about 30 minutes.
Each year, we will follow up by emailing participants asking them to complete questionnaires that will be a subset of the initial set of questions. Questionnaires will again be implemented through secure Google Forms.
Typ studie
Zápis (Odhadovaný)
Kontakty a umístění
Studijní kontakt
- Jméno: Leslie N Russek, PT, DPT, PhD
- Telefonní číslo: 315-212-2851
- E-mail: Lrussek@clarkson.edu
Studijní záloha kontaktů
- Jméno: Samantha Marocco, PT, DPT, EdD
- Telefonní číslo: 315-268-7622
- E-mail: smarocco@clarkson.edu
Studijní místa
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New York
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Potsdam, New York, Spojené státy, 13699
- Clarkson University, Lewis School of Health & Life Sciences
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Kontakt:
- Samantha Marocco, PT, DPT, EdD
- Telefonní číslo: 315-268-7622
- E-mail: smarocco@clarkson.edu
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Kontakt:
- Heather Shattuck, PT, DPT
- Telefonní číslo: 315-268-3786
- E-mail: hshattuc@clarkson.edu
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Vrchní vyšetřovatel:
- Leslie Russek, PT, DPT, PhD
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Kritéria účasti
Kritéria způsobilosti
Věk způsobilý ke studiu
- Dospělý
Přijímá zdravé dobrovolníky
Metoda odběru vzorků
Studijní populace
Popis
Inclusion Criteria: Clarkson University Health Sciences students. -
Exclusion Criteria: Other physical conditions that preclude collecting >25% of physical measurements at initial data collection.
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Studijní plán
Jak je studie koncipována?
Detaily designu
Kohorty a intervence
Skupina / kohorta |
|---|
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hypermobile - symptomatic
People who meet the diagnostic criteria for hEDS or HSD
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non-hypermobile
People who do not meet the diagnostic criteria for generalized joint laxity, hEDS or HSD
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hypermobile - non-symptomatic
People with generalized joint laxity but not meeting diagnostic criteria for hEDS/HSD
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Co je měření studie?
Primární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
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Symptomatic hypermobility disorder
Časové okno: 5 years
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Subject meets diagnostic criteria for hEDS or HSD
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5 years
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Sekundární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
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EQ-5D-5L
Časové okno: 5 years
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5-domain quality of life measure.
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5 years
|
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Hypermobility Spider Questionnaire
Časové okno: 5 years
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31-item questionnaire quantifying symptoms in 8 domains.
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5 years
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Další výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
|---|---|---|
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Physical activity
Časové okno: 5 years
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Modified International Physical Activity Questionnaire
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5 years
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New comorbidities
Časové okno: 5 years
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New presentation of POTS or MCAS
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5 years
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Spolupracovníci a vyšetřovatelé
Sponzor
Publikace a užitečné odkazy
Obecné publikace
- Cleland C, Ferguson S, Ellis G, Hunter RF. Validity of the International Physical Activity Questionnaire (IPAQ) for assessing moderate-to-vigorous physical activity and sedentary behaviour of older adults in the United Kingdom. BMC Med Res Methodol. 2018 Dec 22;18(1):176. doi: 10.1186/s12874-018-0642-3.
- Abed H, Ball PA, Wang LX. Diagnosis and management of postural orthostatic tachycardia syndrome: A brief review. J Geriatr Cardiol. 2012 Mar;9(1):61-7. doi: 10.3724/SP.J.1263.2012.00061.
- Ernst MJ, Williams L, Werner IM, Crawford RJ, Treleaven J. Clinical assessment of cervical movement sense in those with neck pain compared to asymptomatic individuals. Musculoskelet Sci Pract. 2019 Oct;43:64-69. doi: 10.1016/j.msksp.2019.06.006. Epub 2019 Jul 2.
- Weinstock LB, Brook JB, Walters AS, Goris A, Afrin LB, Molderings GJ. Mast cell activation symptoms are prevalent in Long-COVID. Int J Infect Dis. 2021 Nov;112:217-226. doi: 10.1016/j.ijid.2021.09.043. Epub 2021 Sep 23.
- Wang E, Ganti T, Vaou E, Hohler A. The relationship between mast cell activation syndrome, postural tachycardia syndrome, and Ehlers-Danlos syndrome. Allergy Asthma Proc. 2021 May 1;42(3):243-246. doi: 10.2500/aap.2021.42.210022.
- Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):48-69. doi: 10.1002/ajmg.c.31538. Epub 2017 Feb 1.
- Simmonds JV. Masterclass: Hypermobility and hypermobility related disorders. Musculoskelet Sci Pract. 2022 Feb;57:102465. doi: 10.1016/j.msksp.2021.102465. Epub 2021 Oct 13.
- Russek LN, Stott P, Simmonds J. Recognizing and Effectively Managing Hypermobility-Related Conditions. Phys Ther. 2019 Sep 1;99(9):1189-1200. doi: 10.1093/ptj/pzz078.
- Puyol A, King M, Ganderton C, Hu S, Tirosh O. Balance Assessments Using Smartphone Sensor Systems and a Clinician-Led Modified BESS Test in Soccer Athletes with Hip-Related Pain: An Exploratory Cross-Sectional Study. Sensors (Basel). 2026 Feb 6;26(3):1061. doi: 10.3390/s26031061.
- Ormiston CK, Swiatkiewicz I, Taub PR. Postural orthostatic tachycardia syndrome as a sequela of COVID-19. Heart Rhythm. 2022 Nov;19(11):1880-1889. doi: 10.1016/j.hrthm.2022.07.014. Epub 2022 Jul 16.
- Griggs M, Daylor V, Petrucci T, Weintraub A, Huff M, Willey S, Byerly K, Loizzi B, Morningstar J, Ball LE, Bethard JR, Drake R, Sharma A, Eichinger JK, Nichols M, Kautz S, Shapiro S, Maitland A, Patel S, Norris RA, Gensemer C. Proteomic discoveries in hypermobile Ehlers-Danlos syndrome reveal insights into disease pathophysiology. Immunohorizons. 2025 Sep 17;9(10):vlaf044. doi: 10.1093/immhor/vlaf044.
- Ganesh R, Munipalli B. Long COVID and hypermobility spectrum disorders have shared pathophysiology. Front Neurol. 2024 Sep 5;15:1455498. doi: 10.3389/fneur.2024.1455498. eCollection 2024.
- Ewer ER, De Pauw R, Kazkazk H, Ninis N, Rowe P, Simmonds JV, De Wandele I. The Spider: a visual, multisystemic symptom impact questionnaire for people with hypermobility-related disorders-validation in adults. Clin Rheumatol. 2024 Sep;43(9):3005-3017. doi: 10.1007/s10067-024-07071-7. Epub 2024 Jul 31.
- Collins Hutchinson ML, Liang E, Fuster E, Blitshteyn S. Autonomic symptom burden, comorbidities and quality of life in women with Hypermobility Spectrum Disorders and hypermobile Ehlers-Danlos syndrome. Auton Neurosci. 2025 Dec;262:103356. doi: 10.1016/j.autneu.2025.103356. Epub 2025 Oct 14.
- Molderings GJ, Brettner S, Homann J, Afrin LB. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol. 2011 Mar 22;4:10. doi: 10.1186/1756-8722-4-10.
Termíny studijních záznamů
Hlavní termíny studia
Začátek studia (Odhadovaný)
Primární dokončení (Odhadovaný)
Dokončení studie (Odhadovaný)
Termíny zápisu do studia
První předloženo
První předloženo, které splnilo kritéria kontroly kvality
První zveřejněno (Aktuální)
Aktualizace studijních záznamů
Poslední zveřejněná aktualizace (Aktuální)
Odeslaná poslední aktualizace, která splnila kritéria kontroly kvality
Naposledy ověřeno
Více informací
Termíny související s touto studií
Další relevantní podmínky MeSH
Další identifikační čísla studie
- IRB# 26-36
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Popis plánu IPD
Informace o lécích a zařízeních, studijní dokumenty
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