- ICH GCP
- US Clinical Trials Registry
- Klinisk forsøg NCT02153255
Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
Mucopolysaccharidosis Type IVa (MPS IVa, Morquio Disease) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme galactose-6-sulfatase.
Children with this disease accumulate a chemical called keratan sulphate, which stops their skeletons developing properly. They are very short in stature and many of their joints are unstable. Children with MPS IVa walk in a different way to other people due to a combination of lax ligaments and skeletal problems such as knock-knees.
Human walking involves the coordinated movements of all four limbs. As we walk, the arms swing oppositely to the legs. This movement pattern is very different in children with MPS IVa. This change seems to involve the whole musculoskeletal system and depends on the severity of the disease.
Recent studies in children with MPS IVa describing walking pattern have concentrated solely on the lower or upper limb respectively, and have not looked at the interaction of the upper and lower limbs during walking.
To our knowledge, the mechanics of walking in children with MPS IVa has not been investigated using a dynamic gait analysis tool (using cameras, sensors and electrodes to track the movements of different parts of the body during walking) and we aim to characterise this in a small number of children with MPS IVa and also examine the effects of splinting the wrist upon the walking pattern to see if this simple intervention makes it easier or more difficult for children with MPS IVa to walk.
Studieoversigt
Status
Betingelser
Undersøgelsestype
Kontakter og lokationer
Studiesteder
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West Midlands
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Birmingham, West Midlands, Det Forenede Kongerige, B4 6NH
- Birmingham Children's Hospital NHS Foundation Trust
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Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Prøveudtagningsmetode
Studiebefolkning
Beskrivelse
Inclusion Criteria:
- Confirmed diagnosis of MPS IVa (documented history of reduced leucocyte GALNS enzyme activity relative to the normal range of the laboratory performing the assay AND/OR molecular analysis showing two pathogenic mutations in the GALNS gene)
- Willing and able to provide written assent and parent/legal guardian able to provide written informed consent after the nature of the study has been explained and prior to any research-related procedures
- Between 6 and 18 years of age inclusive
- Willing to perform all study procedures as far as physically possible
Exclusion Criteria:
- Inability to comply with Gait Analysis protocol (e.g. nonambulant)
- Recent orthopaedic surgery that investigator deems might impact on Gait Analysis
- Use of any investigational product or investigational medical device other than BMN110 within 30 days prior to recruitment, or requirement for any investigational agent other than BMN110 prior to completion of all scheduled study assessments
- Concurrent disease or condition that would interfere with study participation or safety
- Any condition that, in the view of the Principal or Subinvestigators, places the subject at high risk of not completing the study procedures
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
Kohorter og interventioner
Gruppe / kohorte |
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Children With Mucopolysaccharidosis Type IVa
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Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
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Evidence of abnormal walking pattern and surface EMG activity as assessed by Dynamic Gait Analysis
Tidsramme: Within 6 months of recruitment
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Assessment of head, trunk and joint positions during walking using a 12 camera Vicon motion analysis system.
Surface EMG analysis using a 16 channel wireless surface electromyographic (sEMG) system.
Assessment of lower limb joint moments and powers using Kistler 9281 and AMTI OPT 400600 force plates.
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Within 6 months of recruitment
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Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
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Change in gait pattern over one year
Tidsramme: 12 months after first analysis
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Comparison of two gait analysis studies taken 12 months apart
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12 months after first analysis
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Effect on gait pattern of using wrist splints
Tidsramme: Within 6 months of recruitment
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Assessment of repeat gait analysis measurements done at first visit whilst wearing wrist splints
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Within 6 months of recruitment
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Effect on gait pattern of lower limb surgery
Tidsramme: Within 3 and 6 months of any lower limb surgery
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Further gait analysis studies will be done if a child undergoes any lower limb orthopaedic surgery during the study period and compared with pre-surgery analyses
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Within 3 and 6 months of any lower limb surgery
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Samarbejdspartnere og efterforskere
Samarbejdspartnere
Datoer for undersøgelser
Studer store datoer
Studiestart
Primær færdiggørelse (Faktiske)
Studieafslutning (Faktiske)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Skøn)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Skøn)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
- Metaboliske sygdomme
- Genetiske sygdomme, medfødte
- Muskuloskeletale sygdomme
- Bindevævssygdomme
- Knoglesygdomme
- Kulhydratmetabolisme, medfødte fejl
- Metabolisme, medfødte fejl
- Lysosomale opbevaringssygdomme
- Mucinoser
- Knoglesygdomme, udviklingsmæssige
- Mucopolysaccharidoser
- Osteochondrodysplasier
- Mucopolysaccharidosis IV
Andre undersøgelses-id-numre
- 14/WM/0120
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Kliniske forsøg med Mucopolysaccharidosis IV
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University of MinnesotaNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) og andre samarbejdspartnereAfsluttetMucopolysaccharidosis type I | Mucopolysaccharidosis Type II | Mucopolysaccharidosis Type VI | Mucopolysaccharidosis Type IV | Mucopolysaccharidosis Type VIIForenede Stater, Canada
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Children's Hospitals and Clinics of MinnesotaBioMarin Pharmaceutical; Gillette Children's Specialty Healthcare; Greenwood...AfsluttetMucopolysaccharidosis VI | Mucopolysaccharidosis IV AForenede Stater
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Hospital de Clinicas de Porto AlegreThe Isaac FoundationAktiv, ikke rekrutterendeMucopolysaccharidoser | Mucopolysaccharidosis VI | Morquio A syndrom | Mucopolysaccharidosis IV A | MPS IV A | MPS VI | MPS - Mucopolysaccharidosis | Morquio syndrom A | Morquio syndromBrasilien
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GOIZETBioMarin PharmaceuticalRekruttering
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BioMarin PharmaceuticalAfsluttetMorquio A syndrom | MPS IV A | Mucopolysaccharidosis IVADet Forenede Kongerige
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BioMarin PharmaceuticalICON plcAfsluttetMucopolysaccharidosis IV Type A | Morquio A syndrom | MPS IVAForenede Stater, Det Forenede Kongerige, Australien, Taiwan, Belgien, Malaysia, Østrig, Canada, Portugal, Frankrig, Irland, Tjekkiet, Danmark, Italien, Holland, Polen, Puerto Rico
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BioMarin PharmaceuticalAfsluttetMorquio A syndrom | MPS IVA | Mucopolysaccharidosis IV AForenede Stater, Canada, Frankrig, Taiwan, Argentina, Colombia, Spanien, Kalkun, Japan, Saudi Arabien, Holland, Danmark, Korea, Republikken, Brasilien, Det Forenede Kongerige, Tyskland, Norge, Portugal, Italien, Qatar
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Nadia Ali, PhDBioMarin PharmaceuticalAfsluttetMorquio A syndrom | Mucopolysaccharidosis IV AForenede Stater
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Nemours Children's ClinicEunice Kennedy Shriver National Institute of Child Health and Human Development...RekrutteringMucopolysaccharidosis IV Type A | Morquio A syndrom | MPS IVAForenede Stater
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BioMarin PharmaceuticalAfsluttetEn klinisk vurderingsundersøgelse af forsøgspersoner med mucopolysaccharidosis IVA (Morquio syndrom)Morquio A syndrom | MPS IV A | Mucopolysaccharidosis IVAFrankrig, Det Forenede Kongerige, Taiwan, Forenede Stater, Argentina, Holland, Canada, Brasilien, Tyskland, Italien