Pontocerebellar hypoplasia type 1A
MONDO:0011866Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.
Also known as: VRK1 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1, PCH1A, Pch1, pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, pontocerebellar hypoplasia, type 1A
80 clinical trials for this condition and its sub-types.
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AI boosts brain scan accuracy in massive new trial
Diagnosis ENROLLING_BY_INVITATIONThis study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…
Sponsor: Yaou Liu • Aim: Diagnosis
Last updated Jun 27, 2026 11:00 UTC
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Virtual reality could calm anxious kids with autism at the dentist
Symptom relief ENROLLING_BY_INVITATIONThis study tests whether wearing a virtual reality (VR) headset during dental treatment can reduce fear and stress in children with mild intellectual disabilities or autism spectrum disorder. Two hundred children aged 6 to 12 will either receive standard dental care or use a VR h…
Phase: NA • Sponsor: Semmelweis University • Aim: Symptom relief
Last updated Jun 27, 2026 14:02 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Could a headset at home boost brain recovery? new study tests tDCS for stroke, tumors, and neurodegeneration
Symptom relief ENROLLING_BY_INVITATIONThis study tests whether a home-based brain stimulation device (tDCS) combined with activity therapy can help improve cognitive and language problems in people with stroke, brain tumors, or neurodegenerative conditions like Parkinson's or Alzheimer's. Fifty-five participants will…
Phase: NA • Sponsor: Mayo Clinic • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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Robot suit helps kids with movement disorders take steps at home
Symptom relief OngoingThis study tests a wearable robotic exoskeleton called EXPLORER in 15 children with movement problems from conditions like cerebral palsy. The goal is to see if it helps them walk better in their everyday environments, such as home and the community. The study focuses on safety, …
Phase: NA • Sponsor: MarsiBionics • Aim: Symptom relief
Last updated Jun 27, 2026 07:51 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Smart sleeve study aims to improve movement for nerve disease patients
Knowledge-focused ENROLLING_BY_INVITATIONThis study follows 1000 people with upper motor neuron disease who are about to receive the Cionic Neural Sleeve. The sleeve uses electrical stimulation to help muscles contract at the right time during movement. Researchers will track changes in health-related quality of life us…
Phase: NA • Sponsor: Cionic, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:04 UTC
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New framework aims to prevent medication errors in vulnerable group
Knowledge-focused OngoingThis study works with 110 adults who have intellectual or developmental disabilities and receive care from a Norwegian municipality. The goal is to create better routines and digital tools to make sure they get the right medicines safely. Researchers will review each person's med…
Phase: NA • Sponsor: Vestvagoy Municipality • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC