Ignite Creation Date:
2025-12-25 @ 3:46 AM
Ignite Modification Date:
2026-02-25 @ 10:03 PM
Study NCT ID:
NCT01590602
Status:
COMPLETED
Last Update Posted:
2017-09-15
First Post:
2012-03-22
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006816', 'term': 'Huntington Disease'}], 'ancestors': [{'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D002819', 'term': 'Chorea'}, {'id': 'D020820', 'term': 'Dyskinesias'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D003072', 'term': 'Cognition Disorders'}, {'id': 'D019965', 'term': 'Neurocognitive Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 78}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2011-11'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-09', 'completionDateStruct': {'date': '2017-06-30', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-09-14', 'studyFirstSubmitDate': '2012-03-22', 'studyFirstSubmitQcDate': '2012-05-02', 'lastUpdatePostDateStruct': {'date': '2017-09-15', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2012-05-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-06-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Evalutation of assessments for HD', 'timeFrame': '5 years', 'description': 'If the assessment used as in the study or further modified proofs to be sensitive to disease progression over relatively short time periods, then it is likely to have a significant impact on study trial design and cost.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ["Huntington's Disease", "European Huntington's Disease Network", 'Juvenile HD', 'EHDN', 'REGISTRY'], 'conditions': ['Huntington Disease, Juvenile']}, 'referencesModule': {'references': [{'pmid': '20392980', 'type': 'BACKGROUND', 'citation': "Rickards H, De Souza J, van Walsem M, van Duijn E, Simpson SA, Squitieri F, Landwehrmeyer B; European Huntington's Disease Network. Factor analysis of behavioural symptoms in Huntington's disease. J Neurol Neurosurg Psychiatry. 2011 Apr;82(4):411-2. doi: 10.1136/jnnp.2009.181149. Epub 2010 Apr 14."}, {'pmid': '20890398', 'type': 'BACKGROUND', 'citation': "Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB; Investigators of the European Huntington's Disease Network. Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY. PLoS Curr. 2010 Sep 28;2:RRN1184. doi: 10.1371/currents.RRN1184."}, {'pmid': '21097549', 'type': 'BACKGROUND', 'citation': "Orth M; European Huntington's Disease Network; Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1409-12. doi: 10.1136/jnnp.2010.209668. Epub 2010 Nov 19. No abstract available."}, {'pmid': '21304753', 'type': 'BACKGROUND', 'citation': "Busse M, Al-Madfai DH, Kenkre J, Landwehrmeyer GB, Bentivoglio A, Rosser A; European Huntington's Disease Network. Utilisation of Healthcare and Associated Services in Huntington's disease: a data mining study. PLoS Curr. 2011 Jan 21;3:RRN1206. doi: 10.1371/currents.RRN1206."}, {'pmid': '21432905', 'type': 'BACKGROUND', 'citation': "Lopez-Sendon JL, Royuela A, Trigo P, Orth M, Lange H, Reilmann R, Keylock J, Rickards H, Piacentini S, Squitieri F, Landwehrmeyer B, Witjes-Ane MN, Jurgens CK, Roos RA, Abraira V, de Yebenes JG; European HD Network. What is the impact of education on Huntington's disease? Mov Disord. 2011 Jul;26(8):1489-95. doi: 10.1002/mds.23385. Epub 2011 Mar 22."}, {'pmid': '21736564', 'type': 'BACKGROUND', 'citation': "Ho AK, Hocaoglu MB; European Huntington's Disease Network Quality of Life Working Group. Impact of Huntington's across the entire disease spectrum: the phases and stages of disease from the patient perspective. Clin Genet. 2011 Sep;80(3):235-9. doi: 10.1111/j.1399-0004.2011.01748.x. Epub 2011 Aug 4."}, {'pmid': '21811303', 'type': 'BACKGROUND', 'citation': "Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington's Disease Network. Discrepancies in reporting the CAG repeat lengths for Huntington's disease. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3."}, {'pmid': '21989477', 'type': 'BACKGROUND', 'citation': "Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D; REGISTRY Investigators of the European Huntington's Disease Network; Arning L. NMDA receptor gene variations as modifiers in Huntington disease: a replication study. PLoS Curr. 2011 Oct 4;3:RRN1247. doi: 10.1371/currents.RRN1247."}, {'pmid': '22231310', 'type': 'BACKGROUND', 'citation': "Rickards H, De Souza J, Crooks J, van Walsem MR, van Duijn E, Landwehrmeyer B, Squitieri F, Simpson SA; European Huntington's Disease Network. Discriminant analysis of Beck Depression Inventory and Hamilton Rating Scale for Depression in Huntington's disease. J Neuropsychiatry Clin Neurosci. 2011 Fall;23(4):399-402. doi: 10.1176/jnp.23.4.jnp399."}, {'pmid': '22323755', 'type': 'BACKGROUND', 'citation': "Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8."}, {'pmid': '20037137', 'type': 'BACKGROUND', 'citation': 'Henley SM, Ridgway GR, Scahill RI, Kloppel S, Tabrizi SJ, Fox NC, Kassubek J; EHDN Imaging Working Group. Pitfalls in the use of voxel-based morphometry as a biomarker: examples from huntington disease. AJNR Am J Neuroradiol. 2010 Apr;31(4):711-9. doi: 10.3174/ajnr.A1939. Epub 2009 Dec 24.'}, {'pmid': '19776381', 'type': 'BACKGROUND', 'citation': 'Aziz NA, Jurgens CK, Landwehrmeyer GB; EHDN Registry Study Group; van Roon-Mom WM, van Ommen GJ, Stijnen T, Roos RA. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology. 2009 Oct 20;73(16):1280-5. doi: 10.1212/WNL.0b013e3181bd1121. Epub 2009 Sep 23.'}], 'seeAlsoLinks': [{'url': 'http://www.euro-hd.net', 'label': 'EHDN'}]}, 'descriptionModule': {'briefSummary': 'The study aims to monitor the progression of symptoms and signs of those affected by JHD using modified UHDRS scales of motor and function (functional assessment, TFC). This will provide some basic data to analyse the usefulness of the proposed rating scales. Specifically, the initial aim is to assess these rating scales using an iterative process.\n\nThere may be significant delays in diagnosis of JHD especially if the young person presents with behavioural problems. Caregivers will be asked questions to capture the number of contacts with professionals in the time between onset of concerns about the young person and the confirmation of diagnosis.\n\nAim is to monitor the progression of symptoms and signs of those affected by JHD using modified UHDRS scales of motor and function (functional assessment, TFC). This will provide some basic data to analyse the usefulness of the proposed rating scales.', 'detailedDescription': "Juvenile Huntington's disease (JHD), defined as motor symptom onset before 21 years of age, has been recognised as being at one end of the phenotypic spectrum of HD. In many studies the proportion of cases meeting this definition has varied, but it is usually less than 10% and more probably 5%.\n\nAt present, no treatment is available which will alter the natural history of the condition; however, there is considerable research activity being undertaken to identify novel treatments. Any new disease-modifying treatment will have to be evaluated in a clinical trial with a predetermined outcome measure. Given the relatively slow rate of progression of HD, such a trial may have to last several years and as a consequence be less attractive from a commercial perspective. Patients with JHD have more extensive pathology but are frequently excluded from clinical trials because of the differing phenotype; this study will assess the feasibility of using this rating scale; if it or a further modification can be used and is sensitive to disease progression over relatively short time periods, then it is likely to have a significant impact on study trial design and cost.\n\nGiven the rarity of JHD, wide collaboration of scientists, clinicians and families affected by JHD internationally is important. As might be expected, the pathology in JHD is more widespread. Therefore, we need the ability to assess treatments, which alter the natural history on this subgroup of patients."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'HD patients of all ages with an age of onset below 26', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* A clinical diagnosis of Juvenile-onset HD (motor onset as measured by TMS \\> 5, Diagnostic Confidence level = 4, AND age of onset aged 25 or younger).\n* With family history of HD or DNA testing results demonstrating the presence of the HD mutation (i.e. a CAG repeat expansion within the HD gene \\>35 on larger allele).\n* All participants must be able to provide consent for themselves, have a parent/guardian who can provide parental permission, or have an authorized legal representative who can provide consent.\n\nExclusion Criteria:\n\n* Participants who are unable to understand the study protocol or unable to give informed consent, and have no legal representative.\n* Age of onset ≥26'}, 'identificationModule': {'nctId': 'NCT01590602', 'acronym': 'JHD', 'briefTitle': "REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)", 'organization': {'class': 'NETWORK', 'fullName': "European Huntington's Disease Network"}, 'officialTitle': "REGISTRY-JHD - an Observational Study of the European Huntington's Disease Network (EHDN)", 'orgStudyIdInfo': {'id': 'REGISTRY-JHD'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'JHD cases', 'description': 'All ages included, but must have an HD age of onset 25 or below'}]}, 'contactsLocationsModule': {'locations': [{'zip': '89081', 'city': 'Ulm', 'country': 'Germany', 'facility': 'University Hospital of Ulm, Dept. of Neurology', 'geoPoint': {'lat': 48.39841, 'lon': 9.99155}}, {'zip': 'S10 2TH', 'city': 'Sheffield', 'country': 'United Kingdom', 'facility': "Sheffield Children's Hospital, Department of Clinical Genetics", 'geoPoint': {'lat': 53.38297, 'lon': -1.4659}}], 'overallOfficials': [{'name': 'Oliver Quarrell, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Sheffield Children's Hospital"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "European Huntington's Disease Network", 'class': 'NETWORK'}, 'responsibleParty': {'type': 'SPONSOR'}}}}