Joubert syndrome and related disorders
MONDO:0015369Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
Also known as: JSRD, Joubert syndrome and related disorders
31 clinical trials for this condition and its sub-types.
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Broader categories
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3D-Printed fork handles could help dementia patients eat on their own
Symptom relief Recruiting nowThis study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…
Phase: NA • Sponsor: Centre Hospitalier Intercommunal de Toulon La Seyne sur Mer • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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New wearable gadget aims to ease movement problems in kids
Symptom relief Recruiting nowThis study is testing a device called ViBandz, which uses small vibrating motors strapped to the body to provide vibration therapy. Researchers want to see if it is easy and comfortable for children with neurological conditions to use at home. The study will involve 30 children a…
Sponsor: Children's Mercy Hospital Kansas City • Aim: Symptom relief
Last updated Jun 27, 2026 12:24 UTC
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Brain zaps may steady wobbly walk in ataxia patients
Symptom relief Recruiting nowThis study tests whether combining two types of non-invasive brain stimulation can improve balance and coordination in people with ataxia, a condition that affects movement. Researchers will enroll 30 adults with a confirmed ataxia diagnosis. Participants will receive a combinati…
Phase: NA • Sponsor: I.R.C.C.S. Fondazione Santa Lucia • Aim: Symptom relief
Last updated Jun 27, 2026 09:06 UTC
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Brain pacemaker tweak could help stroke and tremor patients speak and swallow better
Symptom relief Recruiting nowThis study looks at whether adjusting deep brain stimulation (DBS) can improve movement, speech, and swallowing in people already implanted with DBS for conditions like tremor, stroke, or traumatic brain injury. Researchers will test hand dexterity, grip strength, facial movement…
Phase: NA • Sponsor: Jorge Gonzalez-Martinez • Aim: Symptom relief
Last updated Jun 27, 2026 08:04 UTC
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Massive study aims to unlock genetic secrets of movement disorders
Knowledge-focused Recruiting nowThis study aims to understand the link between genes and symptoms in people with inherited movement disorders. Researchers will study up to 2,500 participants, including patients and their family members, to identify new disease-causing genes and improve diagnosis. The goal is to…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
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Massive study aims to unlock secrets of movement disorders
Knowledge-focused Recruiting nowThis natural history study is collecting information from up to 4,000 people with movement disorders (like Parkinson's disease or tremor) and their family members. Participants undergo exams, blood tests, and imaging, but receive no new treatments. The goal is to gather data that…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Scientists hunt for hidden genes behind movement disorders and dementia
Knowledge-focused Recruiting nowThis study aims to find the genetic causes of movement disorders and dementias by analyzing DNA from up to 12,000 participants, including patients and their family members. Researchers will collect blood or saliva samples and look for gene mutations linked to these conditions. Th…
Sponsor: National Institute on Aging (NIA) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Massive data collection launched for brain surgery patients
Knowledge-focused Recruiting nowThis study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Mind-Controlled devices: new study aims to help paralysis patients
Knowledge-focused Recruiting nowThis study explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC
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Brain scans and tests aim to unlock secrets of cognitive deficits after injury
Knowledge-focused Recruiting nowThis study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…
Phase: NA • Sponsor: University Hospital, Caen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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When to start? study seeks optimal age for autism early intervention
Knowledge-focused Recruiting nowThis study looks at when to start a parent coaching program called JASPER Babble for infants who have an older sibling with autism, putting them at higher risk. About 140 babies will join at 6-8 months old and be randomly assigned to start coaching at 9, 12, or 15 months. Researc…
Phase: NA • Sponsor: University of California, Los Angeles • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:02 UTC
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New registry aims to unlock secrets of brain stimulation in kids
Knowledge-focused Recruiting nowThis study is creating a shared database of children who have received deep brain stimulation (DBS) for movement disorders like dystonia, epilepsy, or Tourette syndrome. By pooling data from multiple hospitals, researchers hope to answer key questions about who benefits most and …
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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NIH launches data repository to fuel future research on rare nerve and muscle diseases
Knowledge-focused Recruiting nowThis study gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Scientists build a 'Cognitive Atlas' for mental and neurological illnesses
Knowledge-focused Recruiting nowThis study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…
Phase: NA • Sponsor: Centre Hospitalier St Anne • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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New turkish tool to better assess muscle problems in kids
Knowledge-focused Recruiting nowThis study aims to translate the Hypertonia Assessment Tool (HAT) into Turkish and check if it works correctly. The HAT helps doctors identify different types of increased muscle tone in children with motor disorders. Researchers will test the tool on 70 children under 18 who hav…
Sponsor: Kastamonu University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC
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Thick liquids might help people with swallowing problems take pills safely
Knowledge-focused Recruiting nowThis study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC