[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"intellectual-disabilities\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:intellectual-disabilities":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,44,75,99,128],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":27,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":4,"leadSponsor":40,"locationsCount":43},"100139552","genome-medical-sequencing-for-gene-discovery-100139552",false,"NCT01087320","Genome Medical Sequencing for Gene Discovery","* INCLUSION CRITERIA:\n\nAn individual who is affected with a disorder under study and is older than 4 weeks. Our initial list of exemplar disorders has been discontinued; these disorders were examples of those which meet the general attributes for inclusion in this protocol. As stated above, individuals with disorders we choose to investigate under this protocol will generally represent simplex cases with rare phenotypes whose molecular etiology is unknown.\n\nIn rare instances, we may accept DNA from deceased individuals, including DNA or other saved biological specimens from deceased fetuses\u002Fneonates in accordance with Policy 400. These samples may provide us exceptional opportunities to study variants and manifestations of severe genetic overgrowth disorders where the fetus\u002Fneonate is unviable due to the severity of manifestations. In the rare circumstance where we plan to accept samples from non-viable fetuses\u002Fneonates, we may engage with pregnant mothers to begin consent discussions and coordinate specimen collection. We will only enroll pregnant women who voluntarily donate fetal tissue from invasive prenatal testing, and for which trio analysis is appropriate and necessary. While rare, there may be circumstances in which the scientific objectives (to elucidate the molecular etiology of the proband s genetic condition) would not be possible without analyzing the DNA of the fetus\u002Fproband and the biological parents. The conditions set under 45CFR46.205 are met for the inclusion of non-viable neonates:\n\n* Vital functions of the neonate will not be artificially maintained;\n* The research will not terminate the heartbeat or respiration of the neonate;\n* There will be no added risk to the neonate resulting from the research;\n* The purpose of the research is the development of important biomedical knowledge that cannot be obtained by any other means; and\n* The legally effective informed consent is obtained in accord with applicable regulations.\n\nFamily members of an affected individual where that family member (often a parent) is potentially informative or useful for linkage or other bioinformatic analyses of genetic variants may be enrolled. Probands who are minors or decisionally impaired adults are eligible if they have a parent or legal guardian who has authority to sign a consent form on their behalf.\n\nEXCLUSION INCLUSION:\n\nProbands who are adults and decisionally impaired are ineligible if they do not have a legal guardian who has authority to sign a consent form on their behalf.\n\nSubjects who have known, significant affective or psychiatric disorders that, in the judgment of the team, may impair their ability to understand and appropriately use complex medical and genetic information will be considered decisionally-impaired and will be ineligible unless they have appointed (or, in the case of minor children, are in the custody of) an appropriate surrogate decision-maker.\n\nIn addition, guardianship for cognitively impaired adult probands must be legally established and proof of guardianship must be supplied prior to that family s enrollment.\n\nWe request the ability to use this protocol for multiple genetic disorders, without specifically delineating them a priori. We believe this approach to be appropriate because for nearly all inherited disorders, the risks and benefits of GSMS do not substantively differ. This concept was validated by our now-closed protocol 94-HG-0193, which was a broad-based protocol for heritable congenital anomaly disorders, many of which do not fall neatly into a specific diagnostic classification.\n\nAs mentioned, we may request permission to retain some information about prospective participants who, at the time of their inquiry, may not be eligible for the study but who could become eligible in the future. As these participants will not be signing a consent form, we propose to NOT count these participants in our Inclusion Enrollment Reports but will provide the IRB with a tally of retained records at each Continuing Review.\n\nConsent documents for this protocol are available in English and Spanish. In rare instances, we may enroll participants who speak other languages using the NIH Short Written Consent Form Translation.\n\nWe will not enroll pregnant women, except as outlined in the section above.","ALL","4 Weeks","99 Years",{"count":19,"type":20},2000,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients.\n\nObjectives:\n\n* To identify the genetic cause of disorders that are difficult to identify with existing techniques.\n* To develop best practices for the medical and counseling challenges of genome sequencing.\n\nEligibility:\n\n* Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers.\n* Family members of affected individuals, if that family member (often a parent) may provide genetic information.\n\nDesign:\n\nParticipants in this study will have at least one and in some cases several of the following procedures:\n\n* A medical genetics evaluation.\n* Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies.\n* Clinical photographs to document certain aspects of the disorder.\n* Blood, saliva, and skin biopsy samples, or other tissue samples, as required by the study doctors.\n* Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes.\n* Participants will have choices about what kinds of results from genome sequencing they wish to learn.\n* After the tests have been completed and the results of the genetic studies are known, participants may be offered a return visit to the National Institutes of Health to learn these results, or the results may be returned by telephone or by a participant's home provider.",[24,25,26],"Intellectual Disabilities","Congenital Anomaly","Rare Disorders",[26,28,29,30,31,32],"Natural History","Genome Sequencing","Genetic Disorders","Congenital Disorders","Inherited Diseases","RECRUITING","2026-06-16",{"date":36,"type":37},"2026-06-17","ACTUAL",{"date":39,"type":37},"2010-02-18",{"name":41,"class":42},"National Human Genome Research Institute (NHGRI)","NIH",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":15,"minAge":52,"maxAge":53,"enrollmentInfo":54,"targetDuration":4,"studyType":56,"phases":57,"briefSummary":59,"conditions":60,"keywords":62,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":43},"100629472","health-engagement--access-through-learning-training-and-health-coaching-with-people-with-intellectual-andor-developmental-disabilities-100629472","NCT07475117","Health Engagement & Access Through Learning, Training, and Health-coaching With People With Intellectual and\u002For Developmental Disabilities","Comparing a Group Psychoeducational Health Intervention to Special Olympics Health Programming on Improving Access to Best Practice Health Care for Adults With Intellectual and Developmental Disabilities","HEALTH 4 ME","Inclusion Criteria - Special Olympic Athletes:\n\n* Currently participating in Special Olympics programming at a state agency in the study\n* Has a medical or educational diagnosis of intellectual and\u002For developmental disabilities\n* Between the ages of 21-65\n* Has at least weekly contact with a family member or care partner who is willing and able to participate\n* Fluent in English\n\nInclusion Criteria - Care Partner:\n\n* Care partner for the participating Special Olympic Participant\u002FAthlete\n* At least 21 years of age\n* Has at least weekly contact with Special Olympic Participant\u002FAthlete who is willing and able to participate\n* Fluent in English\n\nExclusion Criteria - all:\n\n* Inability to complete an accessible informed assent or consent process\n* Fluctuating capacity to consent","21 Years","65 Years",{"count":55,"type":20},1040,"INTERVENTIONAL",[58],"NA","The purpose of this study is to see if a combination of an educational curriculum and health coaching embedded within Special Olympics improves health outcomes and healthcare access compared to regular Special Olympics sport and health programming for adults with intellectual and\u002For developmental disabilities.",[24,61],"Developmental Disability",[63],"Special Olympics","NOT_YET_RECRUITING","2026-06-09",{"date":67,"type":37},"2026-06-11",{"date":69,"type":20},"2026-07",{"date":71,"type":20},"2031-03",{"name":73,"class":74},"University of Wisconsin, Madison","OTHER",{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":79,"acronym":80,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":15,"minAge":52,"maxAge":4,"enrollmentInfo":82,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":84,"conditions":85,"keywords":86,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":4},"100564516","nature-and-frequency-of-genetic-abnormalities-and-associated-phenotypes-in-a-cohort-of-adults-with-intellectual-disability-100564516","NCT06630195","Nature and Frequency of Genetic Abnormalities and Associated Phenotypes in a Cohort of Adults With Intellectual Disability","HiNDIA","Inclusion Criteria:\n\n1. Patient over 20 years of age with a proven intellectual disability,\n2. Patient seen in consultation between 2016 and 2025\n3. No objection from the patient or, where applicable, the guardian\n\nExclusion Criteria:\n\n1. Medical file not available\n2. Opposition from the patient or, where applicable, the guardian.",{"count":83,"type":20},1000,"Intellectual disability (ID) is characterized by having an intelligence quotient (IQ) below 70 and substantial limitations in adaptive functioning across different domains, with the condition manifesting before the age of 18. Historically, it was noted that 25% of ID cases were attributed to acquired causes such as perinatal anoxia or infections, another 25% were linked to genetic factors, and the remaining 50% had an 'undetermined' cause. However, with advancements in genetic diagnosis, the proportion of cases with unknown causes is gradually diminishing, giving way to a greater understanding of genetic etiologies. The rarity of each of these causes of ID and the lack of specificity of most of the syndromes mean that it is often difficult to make an aetiological diagnosis. The objective of this study is to describe the nature and frequency of genetic abnomalties identified in adult patients with intellectual disability.\n\nThis is a descriptive, retrospective and prospective study that aim to include 1000 patients across 10 centres aged over 20 years old on consultation between 2016 to 2025 who have been informed (where applicable, the guardian), who have not oppose to participate and who meet the inclusion and non-inclusion criteria. Each centre will include and increment a patient identification number for pseudonymisation of reports. A name correspondence table will be maintained by each center to establish a link between the research identifier and the participant's identity. Each table will be stored on each centre's secure server. The anonymized reports will be transmitted to the coordinating team through the secure Dispose platform, which will transfer all the participants' data to a REDCap APHP database. Descriptive statistic will be performed to count the number of patients with the same genetic syndrome. The age of onset of comorbidities and the proportion of each complication by syndromes will be calculated for all patient, including the means and median.",[24],[87,88,89],"Phenotypes","intellectual disabilities","genetic abnormalities","2025-06-30",{"date":92,"type":37},"2025-07-03",{"date":94,"type":20},"2026-11",{"date":96,"type":20},"2028-11",{"name":98,"class":74},"Assistance Publique - Hôpitaux de Paris",{"id":100,"slug":101,"hasResults":11,"nctId":102,"briefTitle":103,"officialTitle":104,"acronym":105,"eligibilityCriteria":106,"healthyVolunteers":11,"sex":15,"minAge":107,"maxAge":4,"enrollmentInfo":108,"targetDuration":110,"studyType":21,"phases":4,"briefSummary":111,"conditions":112,"keywords":114,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":4},"100586677","an-evaluation-of-care-education-and-treatment-reviews-for-people-with-learning-disabilities-and-autistic-people-100586677","NCT06918483","An Evaluation of Care (Education) and Treatment Reviews for People With Learning Disabilities and Autistic People","An Evaluation of Care (Education) and Treatment Reviews for People With Learning Disabilities and Autistic People (CECILIA)","CECiLiA","Eligibility criteria\n\nParticipants across all stages and work packages are eligible if they meet the following work package-specific inclusion criteria, and the work package-specific exclusion criteria do not apply. All queries about participant eligibility should be directed to the Study Manager.\n\nStage 1 (Work Package 1)\n\nInclusion criteria:\n\n1. A person with a learning disability, or an autistic person, or a family member or carer of an autistic person or person with a learning disability\n2. Having received or taken part in a C(E)TR within the last 12-months including blue-light C(E)TRs\n3. Aged 5 or older (i.e. eligible to attend school at Key Stage one)\n4. For those aged 16 years and older who lack capacity to make a decision about taking part in this research, advice indicating that they should be included from either a personal or nominate consultee\n5. For those aged 15 and younger, consent from the person or organisation with parental responsibility\n\nExclusion criteria:\n\n1. Only having received or taken part in Independently Chaired Care (Education) and Treatment Reviews (IC(E)TRs) within the last 12-months. IC(E)TRs are only for those held within long-term segregation and are out of scope\n2. Aged younger than 5 years\n\nStage 1 (Work Package 2)\n\nInclusion criteria:\n\n1. A C(E)TR chair, clinical member, or EbE or a health or social care professional, or commissioner\n2. Who has taken part in a C(E)TR within the last 12-months including blue-light C(E)TRs.\n\nExclusion criteria:\n\n1\\. Staff who have only taken part in Independently Chaired Care (Education) and Treatment Reviews (IC(E)TRs) within the last 12-months. IC(E)TRs are only for those held within long-term segregation and are out of scope\n\nStage 2 (Work Package 3)\n\nInclusion criteria:\n\nPeople with learning disabilities or autistic people:\n\n1. Who are due to have at least two C(E)TRs within 15-months\n2. Aged 5 or older (i.e. eligible to attend school at Key Stage one)\n3. For those aged 16 and older who lack capacity to make a decision about taking part in this research, advice indicating that they should be included from either a personal or nominate consultee\n4. For those aged 5 years and older, but aged 15 years or younger, consent from the person or organisation with parental responsibility\n\nC(E)TR panel members:\n\n1\\. A chair, Expert by experience or clinical member who is due to attend a C(E)TR for a person with a learning disability or an autistic person who is taking part in this research project\n\nHealth and social care professions:\n\n1\\. A health and social care profession who is due to attend a C(E)TR or CPA for a person with a learning disability or an autistic person who is taking part in this research project\n\nCarers and family members:\n\n1\\. A carer or family member who is due to attend a C(E)TR or CPA for someone with a learning disability or autism who is taking part in this research project\n\nExclusion criteria:\n\nPeople with learning disabilities or autistic people:\n\n1\\. Aged younger than 5 years.\n\nStage 3 (Work Package 4)\n\nInclusion criteria:\n\n1\\. A person with a learning disability, or an autistic person, included within the Assuring Transformation and Mental Health Services datasets.\n\nExclusion criteria:\n\nNone.\n\nStage 4 (Work Package 5) N\u002FA","5 Years",{"count":109,"type":20},695,"695 Months","Aims In this research project, we will determine whether Care (Education) and Treatment Reviews are helpful for people with learning disabilities and autistic people and their families.\n\nBackground Care (Education) and Treatment Reviews were started in 2014 to help get autistic people and people with learning disabilities out of psychiatric hospitals and to prevent their admission to psychiatric hospitals. Care (Education) and Treatment Reviews involve an independent panel including an Expert by Experience, a clinician, and a commissioner who is responsible for paying for an individual's care. The autistic person or the person with learning disability and their family also attend the meeting. The focus of a Care (Education) and Treatment Review is to either prevent a person from being admitted to a psychiatric hospital in the first place, or to help someone who is already in hospital, get out. They do this by trying to work out ways to overcome barriers that might be stopping someone from leaving hospital. However, we do not know if Care (Education) and Treatment Reviews stop people from being admitted to a psychiatric hospital in the first place, or help people already in hospital get out.\n\nMethod Our project has four stages. In Stage 1 we will work with the members of our Lived Experience Advisory Panels to co-produce survey questions. We will design surveys for people with learning disabilities and autistic people, families and carers, Care (Education) and Treatment Reviews panel members, and health and social care professionals to complete. We will share these surveys with as many people as we can nationally. We will make adjustments so that people with learning disabilities can take part in our surveys. We know that individuals with moderate to severe learning disabilities and younger children will not be able to complete the surveys and so we will use other ways to gather their views and experiences. We will also try to work out how much it costs to have a Care (Education) and Treatment Review .\n\nWithin Stage 2, we will find out how patients in hospital are doing over time, by attending Care (Education) and Treatment Reviews, CPA, and other patient meetings. We will ask people, including people with moderate and severe learning disabilities to take part in some interviews with us, ensuring we adapt the interview process, so it is accessible. We will use the information from these interviews to work out whether Care (Education) and Treatment Reviews are helping people and making things better.\n\nIn Stage 3, we will look at the anonymous data that is collected by the NHS about everyone with a learning disability or autism who is admitted to hospital. We will work out what sorts of things helped them and what sorts of things did not help them get out of hospital. We think we will have data that covers over 11 years.\n\nWithin our final stage, Stage 4, we will bring together all of the information we have collected from the different stages of the research to work out what it tells us. We will use the information along with input from our Lived Experience Advisory Panel members to co-produce and share reports and information about what we have found out. We will also co- develop and publish good practice guidance for doing Care (Education) and Treatment Reviews and make sure our guidance is shared in different ways and to different people who need it.\n\nPatient\u002Fpublic involvement We have partnered with Learning Disability England, the National Autistic Society, and the Challenging Behaviour Foundation who will each lead one of our three Lived Experience Advisory Panels: (1) people with learning disabilities, (2) autistic people, and (3) carers and family members. We will have regular meetings with each Lived Experience Advisory Panel to make sure we they can provide input throughout the study. They will help us to design the surveys and interviews, interpret our findings, share the findings and co-produce and publish our good practice guidance in different formats for different target audiences. Each advisory panel will meet separately but we will bring them together once a year to benefit from their combined input.\n\nOur project has been developed collaboratively with Learning Disability England, the National Autistic Society, and the Challenging Behaviour Foundation who all have experience of being involved within Care (Education) and Treatment Reviews. Learning Disability England, the National Autistic Society, and the Challenging Behaviour Foundation will be core members of our study management and study steering committees. Further, a nurse with significant learning disability and autism experience, Expert-by-Experience, and Care (Education) and Treatment Review panel chair is a co-researcher. A carer of a man with severe learning disability is also a co-researcher.",[113,24],"Autism Spectrum Disorder",[115,116,117],"Care (Education) and treatment reviews (C(E)TRs)","Autistic people","People with an intellectual disability","2025-04-08",{"date":120,"type":37},"2025-04-09",{"date":122,"type":20},"2025-04-15",{"date":124,"type":20},"2027-09-30",{"name":126,"class":127},"Coventry and Warwickshire Partnership NHS Trust","OTHER_GOV",{"id":129,"slug":130,"hasResults":11,"nctId":131,"briefTitle":132,"officialTitle":133,"acronym":4,"eligibilityCriteria":134,"healthyVolunteers":11,"sex":15,"minAge":135,"maxAge":4,"enrollmentInfo":136,"targetDuration":4,"studyType":56,"phases":138,"briefSummary":139,"conditions":140,"keywords":142,"overallStatus":64,"whyStopped":4,"lastUpdateSubmitDate":144,"lastUpdatePostDateStruct":145,"startDateStruct":147,"completionDateStruct":149,"leadSponsor":151,"locationsCount":4},"100581548","behavioural-activation-and-severe-learning-disabilities-100581548","NCT06851741","Behavioural Activation and Severe Learning Disabilities","Behavioural Activation for Depression in Adults with Severe Learning Disabilities. a Feasibility Randomised Controlled Study of Behavioural Activation with Treatment As Usual (TAU) Vs TAU Alone","Inclusion Criteria:\n\n* Administratively defined severe\u002Fprofound learning disabilities, confirmed by carer report using the Vineland Adaptive Behaviour Scales 3rd edition. A severe\u002Fprofound learning disability will be confirmed by an ABC composite score of 50 or below (Sparrow et al., 2016). Individuals with severe\u002Fprofound learning disabilities can be characterised by high support needs, limited or no expressive or receptive verbal communication, and significant impairments across adaptive functioning skills.\n* 18 years old and over\n* Clinically significant unipolar depression, meeting the Diagnostic Criteria for Psychiatric Disorders for use with Adults with Learning Disabilities\n* Has a family member or paid carer who has supported them for a minimum of 6 months to complete the screening and baseline visits OR is able to obtain information for the previous 4 months prior to randomisation. The carer, or another named individual, should be available for weekly-fortnightly treatment sessions with the practitioner, and should currently provide a minimum of 10 hours support per week to the participant.\n\nExclusion Criteria:\n\n* Mild\u002Fmoderate learning disabilities\n* A presentation judged by the research team as likely to interfere with the successful engagement with the intervention (e.g. severe agitation, late-stage dementia, uncontrolled epilepsy).","18 Years",{"count":137,"type":20},50,[58],"Research shows that people with severe learning disabilities get depressed at least as often as the wider population. Psychological therapies are recommended to treat depression, and some of these have been adapted for those people with learning disabilities who can talk about their problems. No research has properly tested a psychological therapy for people with severe learning disabilities and any mental health problem. The investigators recently completed a study that tested a psychological therapy (behavioural activation) for people with mild learning disabilities and depression. Behavioural activation improves people's mood by helping them to re-engage in activity that has meaning and purpose for them, rather than relying on talking or thinking skills. Because of this behavioural activation might be promising for people with severe learning disabilities and depression. Along with PAMIS, an organisation for families of people with more profound disabilities, the investigators have adapted the therapy for this group. The investigators now want to find out if it would be possible to carry out a research project about whether behavioural activation works for depressed adults with severe learning disabilities. This is called a feasibility study. The investigators would see if it is possible to recruit 50 adults with severe learning disabilities, and if they are willing to be randomly placed in a group who get behavioural activation or a group who get usual help from services. Other information about running a study would be collected, including about keeping in contact with participants and what measures are needed to find out if change is happening.",[24,141],"Depression",[143,141],"Intellectual disability","2025-02-26",{"date":146,"type":37},"2025-02-28",{"date":148,"type":20},"2025-03-04",{"date":150,"type":20},"2026-11-01",{"name":152,"class":74},"NHS Greater Glasgow and Clyde"]