Hereditary spastic paraplegia 7
MONDO:0011803Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.
Also known as: SPG7, SPG7 hereditary spastic paraplegia, hereditary spastic paraplegia 7, hereditary spastic paraplegia caused by mutation in SPG7, hereditary spastic paraplegia type 7, spastic paraplegia type 7, hereditary spastic paraplegia paraplegin type, spastic paraplegia 7
14 clinical trials for this condition and its sub-types.
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New drug aims to ease fatigue in mitochondrial disease
Symptom relief Recruiting nowThis Phase 2 trial tests whether KL1333 can reduce fatigue and improve leg strength in adults with primary mitochondrial disease, a genetic condition that affects energy production. About 180 participants will receive either KL1333 or a placebo twice daily for 48 weeks. The study…
Phase: PHASE2 • Sponsor: Pharming Technologies B.V. • Aim: Symptom relief
Last updated Jun 28, 2026 00:00 UTC
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New rehab program aims to ease symptoms of rare neurological disorders
Symptom relief Recruiting nowThis study tests a 12-week supervised rehabilitation program for people with two rare genetic conditions that cause walking and balance problems (spastic ataxias). The program includes twice-weekly therapy sessions and once-weekly pool exercises. Researchers want to see if it red…
Phase: NA • Sponsor: Laval University • Aim: Symptom relief
Last updated Jun 27, 2026 09:05 UTC
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NIH launches study to uncover link between infections and mitochondrial disease
Knowledge-focused Recruiting nowThis study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 18, 2026 06:00 UTC
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Worldwide data pool could pave the way for mitochondrial disease trials
Knowledge-focused Recruiting nowThis study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …
Sponsor: LMU Klinikum • Aim: Knowledge-focused
Last updated Aug 09, 2026 00:00 UTC
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Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders
Knowledge-focused Recruiting nowThis study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC
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Blood and skin samples could unlock new mitochondrial disease treatments
Knowledge-focused Recruiting nowThis study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new the…
Sponsor: Minovia Therapeutics Ltd. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC