Autosomal recessive cerebellar ataxia
MONDO:0015244Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.
Also known as: ARCA, arca, cerebellar ataxia, autosomal recessive
90 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive cerebellar ataxia itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Autosomal recessive cerebellar ataxia
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Autosomal recessive degenerative and progressive cerebellar ataxia 0 trials · 49 incl. sub-types
7 sub-types
- Friedreich ataxia 37 trials Sub-types →
- Marinesco-Sjogren syndrome 10 trials
- FLVCR1-related retinopathy with or without ataxia 0 trials · 1 incl. sub-types Sub-types →
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 1 trial
- Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
- Early-onset cerebellar ataxia with retained tendon reflexes 0 trials
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 0 trials
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Autosomal recessive metabolic cerebellar ataxia 0 trials · 10 incl. sub-types
7 sub-types
- Cerebrotendinous xanthomatosis 6 trials
- Abetalipoproteinemia 2 trials
- Recessive mitochondrial ataxia syndrome 2 trials
- Familial isolated deficiency of vitamin E 1 trial
- Autosomal recessive ataxia due to PEX10 deficiency 0 trials
- Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 0 trials Sub-types →
- Autosomal recessive cerebellar ataxia with late-onset spasticity 0 trials
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Autosomal recessive congenital cerebellar ataxia 0 trials · 7 incl. sub-types
7 sub-types
- Cerebellar ataxia, intellectual disability, and dysequilibrium 5 trials Sub-types →
- Joubert syndrome and related disorders 0 trials · 2 incl. sub-types Sub-types →
- CAMOS syndrome 0 trials
- Cayman type cerebellar ataxia 0 trials
- Autosomal recessive spinocerebellar ataxia 17 0 trials
- Autosomal recessive spinocerebellar ataxia 2 0 trials
- Congenital cerebellar ataxia due to RNU12 mutation 0 trials
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Autosomal recessive syndromic cerebellar ataxia 0 trials · 2 incl. sub-types
7 sub-types
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 2 trials
- Gemignani syndrome 0 trials
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 trials
- Ataxia - oculomotor apraxia type 4 0 trials
- Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 trials
- Autosomal recessive spinocerebellar ataxia 11 0 trials
- Peroxisome biogenesis disorder 4B 0 trials
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Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 trials · 2 incl. sub-types
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Lichtenstein-Knorr syndrome 0 trials
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RIDDLE syndrome 0 trials
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3 sub-types
Most studied deeper sub-types
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Children's trial launches for Friedreich's ataxia drug
Disease control OngoingThis study tests omaveloxolone, a drug already approved for adults with Friedreich's ataxia, in children aged 2 to 15. Researchers want to see how the drug moves through children's bodies and whether it is safe. The study involves two parts: a single dose followed by daily dosing…
Phase 1 • Sponsor: Biogen • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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Robots as rehab coaches: a new approach to retraining coordination in ataxia
Disease control OngoingThis trial tests whether robot-assisted neurorehabilitation can improve coordination, balance, and walking in adults with ataxia, a condition that affects movement control. Participants will receive either robotic or standard rehabilitation, and researchers will measure changes i…
Sponsor: Somogy Megyei Kaposi Mór Teaching Hospital • Aim: Disease control
Last updated Jul 31, 2026 00:00 UTC
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One-Patient trial hopes to slow rare eye and nerve disease
Disease control By invitation onlyThis early-phase trial tests an experimental drug called nL-FLVC-001 in a single person with posterior column ataxia with retinitis pigmentosa (PCARP), a rare genetic condition that causes vision loss and coordination problems. The drug is an antisense oligonucleotide injected in…
Early phase 1 • Sponsor: University of Colorado, Denver • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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Balance-Restoring implant trial offers hope for chronic dizziness sufferers
Disease control OngoingThis study is testing a new device called a multichannel vestibular implant for people who have lost most or all of their balance function due to inner ear damage. The implant electrically stimulates the balance nerve to help improve stability and vision during movement. Up to 30…
Sponsor: Johns Hopkins University • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
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Gene therapy trial aims to repair hearts in rare neurological disease
Disease control OngoingThis early-stage trial tests a gene therapy called LX2006 in 8 people with Friedreich's ataxia who also have heart muscle disease. The therapy delivers a healthy copy of the FXN gene to heart cells using a modified virus. The main goal is to check safety over 5 years, while also …
Phase 1/2 • Sponsor: Lexeo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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Gene therapy trial for rare heart condition halted before it began
Disease control CancelledThis study was designed to test a new gene therapy called ASP2016 for heart problems caused by Friedreich Ataxia, a rare genetic disease. The therapy aimed to deliver a healthy copy of the faulty gene to help the heart. However, the study was withdrawn before any participants wer…
Phase 1 • Sponsor: Astellas Gene Therapies • Aim: Disease control
Last updated Jun 27, 2026 08:00 UTC
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Can a new drug slow friedreich ataxia? Long-Term trial underway
Disease control OngoingThis study is testing the long-term safety of a drug called vatiquinone in 130 people with Friedreich ataxia, a rare genetic disease that affects movement and coordination. All participants have taken vatiquinone before in earlier studies. Researchers will track side effects and …
Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:56 UTC
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New york program offers extra screening for 100,000 newborns
Diagnosis By invitation onlyScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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New test could predict falls in muscle disease patients
Diagnosis By invitation onlyThis study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …
Sponsor: LMU Klinikum • Aim: Diagnosis
Last updated Jun 26, 2026 16:30 UTC
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Can a gentle brain zap help people with ataxia walk better?
Symptom relief OngoingThis study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…
Sponsor: University of Cagliari • Aim: Symptom relief
Last updated Jun 27, 2026 08:00 UTC
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Brain function in Friedreich's ataxia: new clues from genetic testing
Knowledge-focused OngoingThis study looks at how Friedreich's ataxia, a genetic nerve disease, affects thinking skills like memory and problem-solving. Researchers will compare cognitive test results between people with the condition and healthy volunteers, and see if these results relate to the number o…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jul 23, 2026 00:00 UTC
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New brain scans could reveal hidden clues in rare nerve disease
Knowledge-focused By invitation onlyThis study uses special brain scans (MRS) to measure two natural chemicals, GABA and glutathione, in people with Friedreich's Ataxia (FRDA). Researchers want to see if these chemicals can serve as reliable markers of the disease and how they change after taking the drug Omaveloxo…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC
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Rare brain disease study seeks to unlock mysteries of atypical TPP1 deficiency
Knowledge-focused OngoingThis study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…
Sponsor: Children's Hospital of Orange County • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Tiny power plants in cells may weaken bones, new study hints
Knowledge-focused OngoingThis study looks at how problems with mitochondria—the tiny power plants inside cells—might affect bone health. Researchers will compare 30 people with certain genetic changes that cause mitochondrial dysfunction to healthy volunteers. They will take blood, bone marrow, and bone …
Sponsor: Aalborg University Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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Back brace showdown: jewett vs. spinomed – which one restricts movement more?
Knowledge-focused By invitation onlyThis study tests two types of hyperextension braces (Jewett and Spinomed) on 30 healthy adults aged 18-35. Researchers measure how much each brace limits spinal movement and affects posture during daily activities like standing and squatting. The goal is to provide clear data to …
Sponsor: Mustafa Tahsin Ozer • Aim: Knowledge-focused
Last updated Jun 26, 2026 16:43 UTC