Congenital hypothalamic hamartoma syndrome
MONDO:0009436Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.
Also known as: Pallister-Hall-like syndrome, congenital hypothalamic hamartoma syndrome, hamartoma of hypothalamus, hypothalamic hamartoma, hypothalamic hamartomas, hamartoma of the hypothalamus
47 clinical trials for this condition and its sub-types.
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Sound waves instead of scalpel: new study targets brain tumors in kids
Disease control Recruiting nowThis study is testing a device called ExAblate 4000 that uses focused ultrasound waves to treat non-cancerous brain tumors in children and young adults. The goal is to see if the treatment is safe and can shrink tumors without open surgery. About 20 participants will be enrolled,…
Phase: NA • Sponsor: InSightec • Aim: Disease control
Last updated Jul 01, 2026 00:00 UTC
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Pre-Surgery breathing workouts may speed recovery after joint surgery
Symptom relief Recruiting nowThis study looks at whether doing breathing exercises before orthopedic surgery (like knee, hip, or fracture repair) can help your lungs work better after the operation. It involves 36 adults who have used tobacco and are at risk for breathing problems after surgery. Participants…
Phase: NA • Sponsor: University of Florida • Aim: Symptom relief
Last updated Jun 27, 2026 12:33 UTC
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Teachers get relief: exercise and ergonomics trial aims to ease aches and pains
Symptom relief Recruiting nowThis study tests whether a program of exercise and ergonomics training can reduce muscle and joint pain in teachers. About 80 teachers who have had pain for at least three months will be randomly assigned to receive the training or not. Researchers will measure changes in pain, d…
Phase: NA • Sponsor: Uskudar University • Aim: Symptom relief
Last updated Jun 27, 2026 09:09 UTC
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New app aims to put rehab strategies in Patients' hands
Symptom relief Recruiting nowThis study tests a web-based app called IAMABLE that provides evidence-based rehabilitation strategies for people with chronic conditions like heart disease, arthritis, or neurological disorders. Fifty adults aged 45 to 75 will use the app for 4 months to set goals and learn abou…
Phase: NA • Sponsor: McMaster University • Aim: Symptom relief
Last updated Jun 27, 2026 09:02 UTC
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New program aims to ease pain and curb opioid misuse for veterans
Symptom relief Recruiting nowThis study tests whether extra support for case managers helps veterans leaving the military better manage pain and reduce risky substance use. About 1800 veterans will take part. The program focuses on non-drug pain treatments and counseling.
Phase: NA • Sponsor: Yale University • Aim: Symptom relief
Last updated Jun 27, 2026 07:56 UTC
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NIH launches major study to unravel hormone mysteries
Knowledge-focused Recruiting nowThis study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Scientists launch study to unlock mysteries of rare bone diseases
Knowledge-focused Recruiting nowThis study aims to learn more about rare skeletal disorders by collecting medical records, blood samples, and genetic data from 100 participants. People with known or suspected bone conditions, as well as their healthy family members, can join either remotely or in person. The go…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
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Massive study aims to unlock genetic secrets of childhood hormone disorders
Knowledge-focused Recruiting nowThis study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Albanian health scales get a scientific makeover
Knowledge-focused Recruiting nowThis study translates and tests several health questionnaires—covering pain, arm and leg function, mood, and daily activities—for use with Albanian-speaking people. Researchers will check if the translated versions are reliable and accurate by giving them to about 300 participant…
Sponsor: Universidad Católica San Antonio de Murcia • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Bone disease biobank launches to uncover hidden clues
Knowledge-focused Recruiting nowThis study is creating a collection of blood, urine, and leftover surgical tissue from 350 patients with bone, calcium, and growth plate disorders. The goal is to better understand how these diseases progress and to find markers that could predict outcomes. No new treatments are …
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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New dashboard aims to reduce guesswork in muscle and joint care
Knowledge-focused Recruiting nowThis study tests a new tool called the PRISM Dashboard, which gives physiotherapists feedback on how their decisions compare to their peers. The goal is to see if this feedback helps reduce differences in care for people with muscle and joint pain. About 60 physiotherapists and t…
Phase: NA • Sponsor: University College, London • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Scientists launch major study to unravel hormone disorders
Knowledge-focused Recruiting nowThis study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC
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Hunting for hidden genetic triggers of severe childhood epilepsy
Knowledge-focused Recruiting nowThis study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:09 UTC
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Can a simple questionnaire predict who will follow their treatment?
Knowledge-focused Recruiting nowThis study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…
Phase: NA • Sponsor: Technical University of Madrid • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Researchers investigate why some patients skip home rehab exercises
Knowledge-focused Recruiting nowThis study follows 252 adults with muscle, bone, or joint problems (like arthritis, back pain, or after surgery) to see how well they do their prescribed home exercises. Researchers will track who sticks with the program and why, looking at factors like pain, mood, and support. T…
Sponsor: Konya Beyhekim Training and Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Virtual reality could revolutionize shoulder therapy
Knowledge-focused Recruiting nowThis study tests whether using a virtual reality (VR) headset during shoulder exercises helps patients feel more engaged and motivated. Fifty adults with shoulder problems will do rehab exercises in a VR environment and then answer questionnaires about how easy and immersive the …
Phase: NA • Sponsor: Fondazione Policlinico Universitario Campus Bio-Medico • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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22,000 patients to help shape future of muscle and joint care
Knowledge-focused Recruiting nowThis study aims to create a secure national database for muscle and joint (musculoskeletal) conditions by collecting routine data from community clinics and GP practices. About 22,000 adults will have their information anonymously gathered to help develop a dashboard that tracks …
Sponsor: Keele University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC
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Spinal anaesthesia timing under the microscope for faster hospital discharge
Knowledge-focused Recruiting nowThis study watches 2000 people having hip or knee replacement surgery to see how long spinal anaesthesia lasts. The goal is to learn how the amount of anaesthetic affects timing, helping doctors decide if patients can safely go home the same day. No new treatments are tested—just…
Sponsor: Nordsjaellands Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC
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Braces get a Tune-Up: study tests best heel cushion for easier walking
Knowledge-focused Recruiting nowThis study looks at how changing the heel cushion on an ankle-foot brace (AFO) affects walking in people who use one daily. Forty adults with leg injuries or nerve problems will try four different heel wedges—tall or short, soft or firm—while walking at controlled speeds. Researc…
Phase: NA • Sponsor: University of Iowa • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC
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3D printing could make bone surgery safer and faster
Knowledge-focused Recruiting nowThis study looks at how 3D computer simulation and printing can help surgeons better plan and perform bone correction surgeries. Researchers will compare the planned corrections to the actual results in 100 children and young adults with rare bone deformities. The goal is to make…
Phase: NA • Sponsor: Istituto Ortopedico Rizzoli • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC
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Massive study tracks 4,000 Kids' implants for safety
Knowledge-focused Recruiting nowThis study follows 4,000 children who receive orthopedic implants (like rods or screws) during standard care for bone fractures, deformities, or hip problems. Researchers will track how long the implants last, any complications, and how well they work over time. The goal is to ga…
Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC
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Scientists launch major data hunt for rare bone diseases
Knowledge-focused Recruiting nowThis study is building a registry of people with rare bone diseases (skeletal dysplasias) in Italy. Researchers will collect medical history, genetic data, and treatment details over time to better understand how these conditions progress. No experimental treatments are given; th…
Sponsor: Luca Sangiorgi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC
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Real-World test gauges pain relief Devices' safety
Knowledge-focused Recruiting nowThis study follows 144 adults with muscle or bone problems who are already scheduled to receive treatment with Chattanooga Intelect devices (like TENS or ultrasound). Researchers will measure pain, muscle strength, and movement range to confirm the devices are safe and work as ex…
Sponsor: DJO UK Ltd • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC